RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | obesity |
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Accession: | DOID:9970
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browse the term
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Definition: | An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. (DO) |
Synonyms: | narrow_synonym: | ADCY3-RELATED CONDITION; MONOGENIC NON-SYNDROMIC OBESITY; MONOGENIC OBESITY; Maternal Obesity; NR0B2-RELATED CONDITION; OBESITY DUE TO MELANOCORTIN 4 RECEPTOR DEFICIENCY; OBESITY DUE TO SIM1 DEFICIENCY; OBESITY, MILD, EARLY-ONSET; Obesity, Late-Onset; Obesity, autosomal dominant; SIM1-RELATED CONDITION; UCP3-RELATED CONDITION; severe obesity and type II diabetes |
| related_synonym: | LEANNESS; MELANOCORTIN 4 RECEPTOR POLYMORPHISM; OBESITY, AGE AT ONSET OF; OBESITY, ASSOCIATION WITH; OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO; OBESITY, RESISTANCE TO; OBESITY, SUSCEPTIBILITY TO; UCP3 polymorphism G/A; obesity, variation in |
| primary_id: | MESH:D009765 |
| alt_id: | MESH:D000079262; MIM:601665 |
| xref: | EFO:0001073; ICD10CM:E66.9; ICD9CM:278.00; NCI:C159658; NCI:C3283 |
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a |
non-agouti |
susceptibility |
IAGP |
DNA, mRNA:deletion, insertions, increased expression: multiple organs OMIM:601665 |
MouseDO RGD |
PMID:7987393 |
RGD:1625724 |
NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932
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Aacs |
acetoacetyl-CoA synthetase |
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ISO |
mRNA:altered expression:thalamus, hypothalamus (rat) |
RGD |
PMID:19219059 |
RGD:2326191 |
NCBI chr 5:125,552,937...125,594,469
Ensembl chr 5:125,552,878...125,594,474
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Abca1 |
ATP-binding cassette, sub-family A member 1 |
susceptibility disease_progression |
ISO |
DNA:SNP:exon:p.R230C (rs9282541) (human) mRNA:increased expression:liver (rat) |
RGD |
PMID:17287470 PMID:25612518 |
RGD:1601092, RGD:15045599 |
NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
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Abcb11 |
ATP-binding cassette, sub-family B member 11 |
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IDA |
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RGD |
PMID:21726512 |
RGD:14688050 |
NCBI chr 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,958
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Abcg5 |
ATP binding cassette subfamily G member 5 |
disease_progression |
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:25612518 |
RGD:15045599 |
NCBI chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439
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Abcg8 |
ATP binding cassette subfamily G member 8 |
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ISO |
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RGD |
PMID:15331430 |
RGD:1601095 |
NCBI chr17:84,983,730...85,007,761
Ensembl chr17:84,983,730...85,007,761
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Acacb |
acetyl-Coenzyme A carboxylase beta |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:left ventricle myocardium (rat) |
CTD RGD |
PMID:20882379 PMID:33310031 |
RGD:329955450 |
NCBI chr 5:114,284,748...114,388,822
Ensembl chr 5:114,284,596...114,388,822
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Acadm |
acyl-Coenzyme A dehydrogenase, medium chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr 3:153,627,990...153,650,280
Ensembl chr 3:153,627,994...153,650,269
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Ace |
angiotensin I converting enzyme |
no_association |
ISO |
protein:increased expression:liver |
RGD |
PMID:19361967 PMID:17164796 |
RGD:2325227, RGD:1601115 |
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Ache |
acetylcholinesterase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
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NCBI chr 5:137,286,516...137,292,728
Ensembl chr 5:137,285,781...137,292,728
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Acly |
ATP citrate lyase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr11:100,367,178...100,418,826
Ensembl chr11:100,367,179...100,418,826
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Acox1 |
acyl-Coenzyme A oxidase 1, palmitoyl |
treatment |
ISO |
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RGD |
PMID:30298849 |
RGD:401960083 |
NCBI chr11:116,062,714...116,089,605
Ensembl chr11:116,062,714...116,089,871
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Acp1 |
acid phosphatase 1, soluble |
severity |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:2373509 PMID:9198310 |
RGD:1625289, RGD:2313187 |
NCBI chr12:30,943,325...30,961,616
Ensembl chr12:30,943,325...30,961,588
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Acp5 |
acid phosphatase 5, tartrate resistant |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr 9:22,038,023...22,047,042
Ensembl chr 9:22,038,023...22,047,007
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Acsl1 |
acyl-CoA synthetase long-chain family member 1 |
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ISO |
mRNA:decreased expression:subcutaneous adipose tissue mRNA, protein:increased expression:adipose tissue, liver CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20882379 PMID:16788709 PMID:1543733 |
RGD:1625735, RGD:1625737 |
NCBI chr 8:46,924,214...46,989,088
Ensembl chr 8:46,924,074...46,989,088
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Ada |
adenosine deaminase |
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ISO |
protein:increased expression:serum |
RGD |
PMID:16501670 |
RGD:1624289 |
NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
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Adarb1 |
adenosine deaminase, RNA-specific, B1 |
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ISO |
associated with Hyperphagia |
RGD |
PMID:17567573 |
RGD:10450894 |
NCBI chr10:77,126,561...77,254,125
Ensembl chr10:77,126,560...77,254,104
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Adcy3 |
adenylate cyclase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ADCY3-related condition |
CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29311635 |
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NCBI chr12:4,183,397...4,263,525
Ensembl chr12:4,183,103...4,263,525
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Adipoq |
adiponectin, C1Q and collagen domain containing |
treatment |
ISO |
associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma associated with myocardial infarction; protein:decreased expression:plasma associated with Diabetes Mellitus, Type 2 CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:10092513 PMID:14617771 PMID:16092047 PMID:19606374 PMID:18303100 PMID:18651432 PMID:23731386 PMID:28843383 More...
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RGD:1599149, RGD:2313239, RGD:5686809, RGD:5686813, RGD:8695927, RGD:14975146 |
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Adipor1 |
adiponectin receptor 1 |
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ISO |
mRNA:increased expression:liver mRNA:decreased expression:lymphocyte |
RGD |
PMID:16483885 PMID:17391161 |
RGD:1625763, RGD:1625761 |
NCBI chr 1:134,343,116...134,361,089
Ensembl chr 1:134,343,116...134,361,089
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Adipor2 |
adiponectin receptor 2 |
treatment severity |
ISO |
mRNA:increased expression:liver mRNA:decreased expression:liver (rat) associated with non-alcoholic fatty liver disease |
RGD |
PMID:16483885 PMID:30225267 PMID:23838384 PMID:30131158 |
RGD:1625763, RGD:21406435, RGD:8695926, RGD:25824942 |
NCBI chr 6:119,330,111...119,394,489
Ensembl chr 6:119,330,111...119,394,665
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Adm |
adrenomedullin |
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ISO |
mRNA, protein:increased expression:adipose tissue |
RGD |
PMID:16793965 |
RGD:1625297 |
NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
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Adora1 |
adenosine A1 receptor |
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ISO |
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RGD |
PMID:16507638 |
RGD:1625369 |
NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169
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Adra2a |
adrenergic receptor, alpha 2a |
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ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr19:54,033,690...54,037,413
Ensembl chr19:54,032,582...54,037,413
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Adra2b |
adrenergic receptor, alpha 2b |
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ISO |
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RGD |
PMID:10404816 |
RGD:1300265 |
NCBI chr 2:127,205,099...127,209,141
Ensembl chr 2:127,205,128...127,209,141
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Adrb1 |
adrenergic receptor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12032746 |
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NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545
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Adrb2 |
adrenergic receptor, beta 2 |
susceptibility no_association |
ISO IGI |
DNA:polymorphisms: :p.R16G, p.Q27E CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15687340 PMID:17027833 PMID:17221209 PMID:15118671 PMID:12161655 |
RGD:1601122, RGD:1601119, RGD:1331525, RGD:737773 |
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
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Adrb3 |
adrenergic receptor, beta 3 |
no_association susceptibility |
IEP ISO |
mRNA:decreased expression:interscapular region, brown adipose tissue (mouse) DNA:missense mutation:cds:p.W64R (human) DNA:missense mutation:cds:p.W64R rs4994 (human) DNA:polymorphisms, haplotype:cds, intron, 3' utr:g.827T>C rs4994, g.1856G>T, g.3139G>C (human) ClinVar Annotator: match by term: Obesity CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:7609750 PMID:7609752 PMID:8903328 PMID:8954053 PMID:9054940 PMID:9100608 PMID:9112025 PMID:9449691 PMID:9709965 PMID:9814483 PMID:9892244 PMID:10323390 PMID:10323402 PMID:10999801 PMID:11095426 PMID:15472194 PMID:25741868 PMID:19373220 PMID:9126344 PMID:11882399 PMID:9892244 More...
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RGD:5684359, RGD:1559325, RGD:5684409, RGD:5684773 |
NCBI chr 8:27,715,804...27,720,833
Ensembl chr 8:27,715,804...27,740,644
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Aff4 |
AF4/FMR2 family, member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25730767 |
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NCBI chr11:53,240,807...53,312,657
Ensembl chr11:53,241,660...53,312,657
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Agap2 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 |
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IMP |
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RGD |
PMID:20068140 |
RGD:13838849 |
NCBI chr10:126,911,154...126,929,039
Ensembl chr10:126,911,153...126,929,038
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Ager |
advanced glycosylation end product-specific receptor |
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IMP ISO |
protein:decreased expression:plasma (human) |
RGD |
PMID:23046363 PMID:22761461 |
RGD:7243247, RGD:7243250 |
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Agrp |
agouti related neuropeptide |
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ISO |
mRNA:increased expression:hypothalamus DNA:polymorphism:exon:c.199G>A, pAla67Thr (human) DNA:polymorphism:promoter:-38C>T (human) ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, late-onset CTD Direct Evidence: marker/mechanism DNA:SNP:T67A (rs5030980) (human) |
OMIM ClinVar CTD RGD |
PMID:11602360 PMID:12213871 PMID:15054840 PMID:25741868 PMID:18001323 PMID:12213871 PMID:11554767 PMID:11344185 PMID:15118671 PMID:23900445 More...
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RGD:2311538, RGD:1625232, RGD:2314000, RGD:1300272, RGD:1331525, RGD:405650675 |
NCBI chr 8:106,293,327...106,306,477
Ensembl chr 8:106,293,330...106,364,025
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Agt |
angiotensinogen |
susceptibility |
ISO |
DNA:polymorphism: :p.M235T DNA:polymorphism: :p.T174M |
RGD |
PMID:16713443 PMID:16514903 |
RGD:1601142, RGD:1601143 |
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Agtr2 |
angiotensin II receptor, type 2 |
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IAGP |
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RGD |
PMID:15793237 |
RGD:2313554 |
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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Ahi1 |
Abelson helper integration site |
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ISO |
mRNA:increased expression:vastus lateralis |
RGD |
PMID:20045148 |
RGD:11537398 |
NCBI chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328
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Ahr |
aryl-hydrocarbon receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27020609 PMID:30813227 PMID:31306034 |
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NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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Ahsg |
alpha-2-HS-glycoprotein |
susceptibility |
ISO IAGP |
protein:increased expression:serum |
RGD |
PMID:19228823 PMID:17011519 |
RGD:2313809, RGD:1625793 |
NCBI chr16:22,710,793...22,718,193
Ensembl chr16:22,710,027...22,718,199
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Ak1 |
adenylate kinase 1 |
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ISO |
protein:increased expression:skeletal muscle |
RGD |
PMID:15855311 |
RGD:1601154 |
NCBI chr 2:32,511,770...32,525,070
Ensembl chr 2:32,511,770...32,525,070
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Akap1 |
A kinase anchor protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20975297 |
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NCBI chr11:88,721,618...88,755,426
Ensembl chr11:88,721,618...88,755,412
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Akr1c18 |
aldo-keto reductase family 1, member C18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr13:4,182,614...4,200,645
Ensembl chr13:4,182,614...4,200,653
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Akr1c20 |
aldo-keto reductase family 1, member C20 |
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ISO |
mRNA, protein:increased expression:adipose tissue |
RGD |
PMID:15494612 |
RGD:1626148 |
NCBI chr13:4,536,855...4,573,353
Ensembl chr13:4,536,848...4,573,344
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Akr1c21 |
aldo-keto reductase family 1, member C21 |
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ISO |
mRNA, protein:increased expression:adipose tissue |
RGD |
PMID:15494612 |
RGD:1626148 |
NCBI chr13:4,624,074...4,636,542
Ensembl chr13:4,624,074...4,636,540
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Akr1c6 |
aldo-keto reductase family 1, member C6 |
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ISO |
mRNA, protein:increased expression:adipose tissue |
RGD |
PMID:15494612 |
RGD:1626148 |
NCBI chr13:4,484,354...4,507,529
Ensembl chr13:4,484,305...4,507,876
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Akt1 |
thymoma viral proto-oncogene 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23954404 |
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NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Akt2 |
thymoma viral proto-oncogene 2 |
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IMP ISO |
protein:decreased activity:rectus abdominis (human) protein:decreased expression:plantaris (rat) |
RGD |
PMID:17923673 PMID:12663464 PMID:18508911 |
RGD:2313406, RGD:2313409, RGD:2313320 |
NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251
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Aldh1l1 |
aldehyde dehydrogenase 1 family, member L1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr 6:90,527,751...90,576,153
Ensembl chr 6:90,463,409...90,577,185
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Aldh6a1 |
aldehyde dehydrogenase family 6, subfamily A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr12:84,477,491...84,497,798
Ensembl chr12:84,477,491...84,497,778
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Alms1 |
ALMS1, centrosome and basal body associated |
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IAGP |
OMIM:601665 |
MouseDO |
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NCBI chr 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735
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Alox12 |
arachidonate 12-lipoxygenase |
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ISO IMP |
mRNA:increased expression:adipose tissue, fat cell |
RGD |
PMID:20978234 PMID:18780776 |
RGD:5509594, RGD:5509628 |
NCBI chr11:70,132,283...70,146,206
Ensembl chr11:70,132,283...70,146,179
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Alox5ap |
arachidonate 5-lipoxygenase activating protein |
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IEP ISO |
mRNA:increased expression:adipose tissue (mouse) mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:17379835 PMID:19596146 |
RGD:2313913, RGD:2313884 |
NCBI chr 5:149,201,814...149,224,963
Ensembl chr 5:149,201,577...149,224,963
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Amh |
anti-Mullerian hormone |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:17109858 |
RGD:1601182 |
NCBI chr10:80,641,074...80,643,513
Ensembl chr10:80,641,077...80,643,482
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Ang |
angiogenin, ribonuclease, RNase A family, 5 |
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IEP |
protein:increased expression:adipose tissue |
RGD |
PMID:22748184 |
RGD:6892722 |
NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
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Angptl4 |
angiopoietin-like 4 |
resistance |
IAGP ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:28842503 PMID:17210919 |
RGD:1625353 |
NCBI chr17:33,993,874...34,000,549
Ensembl chr17:33,992,724...34,000,804
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Angptl6 |
angiopoietin-like 6 |
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IAGP |
OMIM:601665 |
MouseDO |
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NCBI chr 9:20,785,104...20,791,116
Ensembl chr 9:20,785,104...20,791,023
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Ankrd26 |
ankyrin repeat domain 26 |
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IMP IAGP |
OMIM:601665 |
MouseDO RGD |
PMID:18162531 |
RGD:9681744 |
NCBI chr 6:118,478,261...118,539,244
Ensembl chr 6:118,478,269...118,539,187
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Aoc3 |
amine oxidase, copper containing 3 |
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ISO |
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RGD |
PMID:17977742 |
RGD:2313916 |
NCBI chr11:101,221,432...101,230,256
Ensembl chr11:101,221,431...101,232,764
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Apcdd1 |
adenomatosis polyposis coli down-regulated 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242765 |
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NCBI chr18:63,055,398...63,086,886
Ensembl chr18:63,055,302...63,094,250
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Apln |
apelin |
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ISO |
mRNA:increased expression:subcutaneous adipose tissue |
RGD |
PMID:17594060 |
RGD:1626170 |
NCBI chr X:47,114,023...47,123,730
Ensembl chr X:47,114,023...47,123,730
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Apoa1 |
apolipoprotein A-I |
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IEP ISO |
protein:decreased expression |
RGD |
PMID:9933608 PMID:12725089 |
RGD:2313959, RGD:1601185 |
NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
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Apoa2 |
apolipoprotein A-II |
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IEP ISO |
protein:increased expression:serum |
RGD |
PMID:9933608 PMID:9002300 |
RGD:2313959, RGD:1601191 |
NCBI chr 1:171,049,133...171,053,948
Ensembl chr 1:171,052,623...171,053,948
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Apoa4 |
apolipoprotein A-IV |
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ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
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Apoa5 |
apolipoprotein A-V |
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ISO |
DNA:SNP: :rs662799 (human) |
GAD RGD |
PMID:15118671 PMID:25606423 |
RGD:1331525, RGD:329901774 |
NCBI chr 9:46,179,906...46,183,219
Ensembl chr 9:46,179,931...46,183,217
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G |
Apob |
apolipoprotein B |
|
IEP ISO |
associated with Insulin Resistance;protein:increased expression:plasma |
RGD GAD |
PMID:19592617 PMID:15118671 |
RGD:2313974, RGD:1331525 |
NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
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|
G |
Apobec1 |
apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:8781289 |
RGD:1626278 |
NCBI chr 6:122,554,755...122,580,068
Ensembl chr 6:122,554,751...122,579,403
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|
G |
Apoc1 |
apolipoprotein C-I |
|
ISO |
|
RGD |
PMID:11723061 |
RGD:2313951 |
NCBI chr 7:19,423,405...19,426,584
Ensembl chr 7:19,423,406...19,426,585
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|
G |
Apoc2 |
apolipoprotein C2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:9002300 |
RGD:1601191 |
NCBI chr 7:19,405,504...19,411,866
Ensembl chr 7:19,405,504...19,411,866
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|
G |
Apoc3 |
apolipoprotein C-III |
|
ISO |
protein:increased expression:serum |
RGD GAD |
PMID:9002300 PMID:15118671 |
RGD:1601191, RGD:1331525 |
NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934
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|
G |
Apod |
apolipoprotein D |
|
ISO |
DNA:polymorphism |
RGD |
PMID:7913935 |
RGD:2311179 |
NCBI chr16:31,115,010...31,133,626
Ensembl chr16:31,115,010...31,133,626
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|
G |
Apoe |
apolipoprotein E |
|
ISO IMP |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20975297 PMID:9002300 PMID:15118671 PMID:17192461 |
RGD:1601191, RGD:1331525, RGD:1601230 |
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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|
G |
App |
amyloid beta precursor protein |
treatment |
ISO |
mRNA,protein:increased expression:adipocyte,plasma: |
RGD |
PMID:19672057 |
RGD:10054260 |
NCBI chr16:84,751,236...84,972,187
Ensembl chr16:84,746,573...84,970,654
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|
G |
Aqp7 |
aquaporin 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16325777 |
|
NCBI chr 4:41,033,074...41,048,237
Ensembl chr 4:41,033,074...41,048,139
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|
G |
Ar |
androgen receptor |
susceptibility |
ISO IAGP |
DNA:repeats: :GGN, CAG associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG OMIM:601665 |
MouseDO RGD |
PMID:12532157 PMID:18805913 PMID:15118671 |
RGD:1601246, RGD:2306771, RGD:1331525 |
NCBI chr X:97,192,363...97,366,824
Ensembl chr X:97,192,375...97,366,821
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|
G |
Arl13b |
ADP-ribosylation factor-like 13B |
|
IEP |
protein:decreased expression:hypothalamus, cilium (mouse) |
RGD |
PMID:22581473 |
RGD:11553936 |
NCBI chr16:62,613,671...62,667,418
Ensembl chr16:62,614,048...62,667,403
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|
G |
Atp1a2 |
ATPase, Na+/K+ transporting, alpha 2 polypeptide |
susceptibility |
IAGP |
|
RGD |
PMID:16286513 |
RGD:1601250 |
NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631
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|
G |
Atp4b |
ATPase, H+/K+ exchanging, beta polypeptide |
treatment |
ISO |
|
RGD |
PMID:25822172 |
RGD:14696745 |
NCBI chr 8:13,436,209...13,446,778
Ensembl chr 8:13,436,205...13,446,825
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|
G |
Atp5f1b |
ATP synthase F1 subunit beta |
treatment |
ISO |
|
RGD |
PMID:26880535 |
RGD:13782133 |
NCBI chr10:127,919,176...127,926,257
Ensembl chr10:127,919,142...127,926,260
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G |
Atp5f1c |
ATP synthase F1 subunit gamma |
|
ISO |
|
RGD |
PMID:19549744 |
RGD:14696798 |
NCBI chr 2:10,060,841...10,085,321
Ensembl chr 2:10,060,827...10,085,321
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G |
Atp5f1d |
ATP synthase F1 subunit delta |
treatment |
ISO |
|
RGD |
PMID:27874268 |
RGD:13792665 |
NCBI chr10:79,974,451...79,981,662
Ensembl chr10:79,974,466...79,981,652
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G |
Atp5mc2 |
ATP synthase membrane subunit c locus 2 |
|
IEP |
|
RGD |
PMID:26709097 |
RGD:11535661 |
NCBI chr15:102,571,303...102,579,482
Ensembl chr15:102,571,299...102,580,787
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G |
Atpaf1 |
ATP synthase mitochondrial F1 complex assembly factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 4:115,642,025...115,669,120
Ensembl chr 4:115,642,009...115,679,852
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G |
Atrn |
attractin |
|
IMP |
|
RGD |
PMID:10086355 |
RGD:734623 |
NCBI chr 2:130,734,363...130,872,249
Ensembl chr 2:130,748,415...130,872,253
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|
G |
Azgp1 |
alpha-2-glycoprotein 1, zinc |
|
ISO IEP |
associated with colorectal cancer; protein:decreased expression:subcutaneous white adipose tissue protein:decreased expression:plasma mRNA, protein:decreased expression:fat pad, liver,plasma mRNA:decreased expression:fat pad |
RGD |
PMID:29755407 PMID:21136593 PMID:19934249 PMID:19934249 |
RGD:153350147, RGD:153350156, RGD:153350157, RGD:153350157 |
NCBI chr 5:137,979,783...137,988,495
Ensembl chr 5:137,979,782...137,988,495
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G |
B2m |
beta-2 microglobulin |
|
ISO |
protein:increased expression:urine |
RGD |
PMID:15517379 |
RGD:1601309 |
NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
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G |
Bad |
BCL2-associated agonist of cell death |
|
ISO |
protein:increased expression:heart left ventricle |
RGD |
PMID:18070754 |
RGD:2292682 |
NCBI chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267
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G |
Bambi |
BMP and activin membrane-bound inhibitor |
|
IEP |
mRNA:decreased expression:adipose tissue |
RGD |
PMID:22187378 |
RGD:14390162 |
NCBI chr18:3,507,011...3,516,404
Ensembl chr18:3,507,923...3,516,404
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G |
Bbs1 |
Bardet-Biedl syndrome 1 |
no_association |
ISO IAGP IMP |
DNA:mutation: :p.M390R (human) OMIM:601665 |
MouseDO RGD |
PMID:14993910 PMID:33722691 |
RGD:1601314, RGD:243065268 |
NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656
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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
susceptibility |
ISO |
DNA:SNPs |
RGD |
PMID:17003356 |
RGD:1601311 |
NCBI chr 8:94,794,580...94,825,997
Ensembl chr 8:94,794,582...94,825,556
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G |
Bbs4 |
Bardet-Biedl syndrome 4 |
onset |
ISO IAGP |
DNA:SNPs OMIM:601665 |
MouseDO RGD |
PMID:17003356 |
RGD:1601311 |
NCBI chr 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791
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G |
Bche |
butyrylcholinesterase |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:18452903 PMID:23000450 PMID:23073171 PMID:27163854 |
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NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
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G |
Bcl2 |
B cell leukemia/lymphoma 2 |
|
ISO |
mRNA, protein:decreased expression:heart left ventricle |
RGD |
PMID:18202171 |
RGD:2293027 |
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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|
G |
Bdkrb1 |
bradykinin receptor, beta 1 |
|
IEP |
ob/ob mice mRNA:decreased expression:brown adipose tissue, heart mRNA:increased expression:white adipose tissue, hypothalamus |
RGD |
PMID:17184856 |
RGD:1625733 |
NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687
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G |
Bdnf |
brain derived neurotrophic factor |
|
ISO |
protein:decreased expression:plasma ClinVar Annotator: match by term: Obesity |
ClinVar RGD |
PMID:11840487 PMID:25741868 PMID:28492532 PMID:17151862 |
RGD:10059350 |
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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G |
Bnip3 |
BCL2/adenovirus E1B interacting protein 3 |
|
ISO |
|
RGD |
PMID:18070754 |
RGD:2292682 |
NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248
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G |
Brd2 |
bromodomain containing 2 |
|
IMP |
|
RGD |
PMID:19883376 |
RGD:9586446 |
NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
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G |
Brs3 |
bombesin-like receptor 3 |
|
IMP |
|
RGD |
PMID:9367152 |
RGD:734661 |
NCBI chr X:56,088,434...56,094,118
Ensembl chr X:56,088,434...56,094,118
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G |
C3 |
complement component 3 |
treatment |
ISO |
|
RGD |
PMID:23118029 |
RGD:7411625 |
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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G |
C5ar1 |
complement component 5a receptor 1 |
treatment |
ISO |
|
RGD |
PMID:23118029 |
RGD:7411625 |
NCBI chr 7:15,980,668...15,993,465
Ensembl chr 7:15,980,668...15,993,465
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G |
Cadm2 |
cell adhesion molecule 2 |
|
ISO |
DNA:SNP: :rs13078807 (human) |
RGD |
PMID:31341224 |
RGD:15092077 |
NCBI chr16:66,452,302...67,417,825
Ensembl chr16:66,452,307...67,417,796
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|
G |
Canx |
calnexin |
|
ISO |
protein:increased expression:subcutaneous adipose tissue |
RGD |
PMID:18567819 |
RGD:2314284 |
NCBI chr11:50,184,784...50,216,500
Ensembl chr11:50,184,788...50,216,500
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|
G |
Capn10 |
calpain 10 |
|
ISO |
DNA:SNPs |
RGD |
PMID:16752174 |
RGD:1625047 |
NCBI chr 1:92,862,130...92,875,670
Ensembl chr 1:92,862,098...92,875,663
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|
G |
Car3 |
carbonic anhydrase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 3:14,928,598...14,937,441
Ensembl chr 3:14,928,572...14,937,583
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|
G |
Cartpt |
CART prepropeptide |
no_association susceptibility |
ISO |
DNA:deletion, substitution: :1457delA, 1475A>G (human) DNA:polymorphism:3' utr (human) DNA:missense mutation:exon:729G>C, p.L34F (human) ClinVar Annotator: match by term: Obesity CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:11522684 PMID:15326462 PMID:25741868 PMID:10574510 PMID:10805512 PMID:11522684 More...
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RGD:2313634, RGD:2313633, RGD:1625192 |
NCBI chr13:100,034,991...100,037,191
Ensembl chr13:100,034,997...100,037,599
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|
G |
Casp1 |
caspase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22325453 |
|
NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
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|
G |
Cast |
calpastatin |
|
ISO |
ClinVar Annotator: match by term: Body mass index quantitative trait locus 12 | ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency |
ClinVar |
PMID:18604207 PMID:22210313 PMID:23383060 PMID:25741868 PMID:28492532 |
|
NCBI chr13:74,840,485...74,956,993
Ensembl chr13:74,840,487...74,956,929
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G |
Cav1 |
caveolin 1, caveolae protein |
|
ISO |
|
RGD |
PMID:22492718 |
RGD:6784520 |
NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451
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G |
Cav2 |
caveolin 2 |
|
ISO |
|
RGD |
PMID:22492718 |
RGD:6784520 |
NCBI chr 6:17,281,184...17,289,129
Ensembl chr 6:17,281,184...17,289,114
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|
G |
Cckar |
cholecystokinin A receptor |
|
ISO |
DNA:deletion |
RGD |
PMID:9530226 PMID:9192855 |
RGD:7257724, RGD:734711 |
NCBI chr 5:53,855,827...53,865,046
Ensembl chr 5:53,855,118...53,865,047
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
protein, mRNA:increased expression:plasma, fat protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29035695 PMID:17803693 PMID:18469848 |
RGD:2306993, RGD:2307038 |
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
|
RGD |
PMID:21862610 |
RGD:5683906 |
NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:18469848 |
RGD:2307038 |
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
ISO |
|
RGD |
PMID:18492752 |
RGD:6483834 |
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
mRNA:increased expression:adipose tissue |
RGD |
PMID:18492752 |
RGD:6483834 |
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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|
G |
Cd163 |
CD163 antigen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29035695 |
|
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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|
G |
Cd36 |
CD36 molecule |
|
ISO IMP |
mRNA, protein:increased expression:liver, gastrocnemius protein:increased expression:skeletal muscle, T-tubule |
RGD |
PMID:20435456 PMID:22615812 PMID:23743348 PMID:25477422 |
RGD:6893497, RGD:6893542, RGD:11041118, RGD:11041132 |
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
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G |
Cd40 |
CD40 antigen |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29035695 PMID:21670556 |
RGD:7248753 |
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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G |
Cd40lg |
CD40 ligand |
|
IMP ISO |
protein:increased expression:serum |
RGD |
PMID:21817098 PMID:20660932 |
RGD:5490592, RGD:5490970 |
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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G |
Cd68 |
CD68 antigen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29035695 |
|
NCBI chr11:69,555,039...69,556,996
Ensembl chr11:69,555,039...69,556,979
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G |
Cdk4 |
cyclin dependent kinase 4 |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:intron:IVS4-40G>A (human) |
RGD |
PMID:19634152 |
RGD:2314609 |
NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
|
|
G |
Cdkal1 |
CDK5 regulatory subunit associated protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr13:29,375,729...30,039,665
Ensembl chr13:29,375,729...30,039,657
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|
G |
Cdkn1b |
cyclin dependent kinase inhibitor 1B |
|
IEP |
protein:decreased expression:liver |
RGD |
PMID:23357529 |
RGD:10045356 |
NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476
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G |
Cdkn2a |
cyclin dependent kinase inhibitor 2A |
|
ISO |
|
RGD |
PMID:22194422 |
RGD:8552660 |
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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|
G |
Cdo1 |
cysteine dioxygenase 1, cytosolic |
|
IEP |
|
RGD |
PMID:16627576 |
RGD:2301355 |
NCBI chr18:46,846,260...46,861,569
Ensembl chr18:46,846,260...46,861,462
|
|
G |
Cebpa |
CCAAT/enhancer binding protein alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242765 |
|
NCBI chr 7:34,818,718...34,821,353
Ensembl chr 7:34,818,718...34,821,353
|
|
G |
Cenpo |
centromere protein O |
|
ISO |
ClinVar Annotator: match by term: ADCY3-related condition |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
|
NCBI chr12:4,243,548...4,284,255
Ensembl chr12:4,246,004...4,284,294
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|
G |
Cers1 |
ceramide synthase 1 |
|
IEP |
mRNA:increased expression:skeletal muscle cell |
RGD |
PMID:30605666 |
RGD:156431060 |
NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242
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|
G |
Ces1d |
carboxylesterase 1D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20975297 |
|
NCBI chr 8:93,892,700...93,924,432
Ensembl chr 8:93,892,696...93,924,466
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|
G |
Ces1g |
carboxylesterase 1G |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24597639 |
|
NCBI chr 8:94,028,997...94,063,837
Ensembl chr 8:94,028,997...94,063,936
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|
G |
Cfd |
complement factor D |
|
ISO |
mRNA, protein:decreased expression:adipocyte, serum |
RGD |
PMID:14564690 PMID:2197880 |
RGD:1624324, RGD:1624327 |
NCBI chr10:79,726,687...79,728,489
Ensembl chr10:79,726,687...79,728,489
|
|
G |
Cidea |
cell death-inducing DNA fragmentation factor, alpha subunit-like effector A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20975297 PMID:16186410 |
RGD:1625390 |
NCBI chr18:67,476,634...67,500,864
Ensembl chr18:67,476,674...67,500,855
|
|
G |
Cnr1 |
cannabinoid receptor 1 |
no_association |
ISO IMP |
DNA:polymorphism: :1256C>A, 1419+1G>C (human) DNA:polymorphism:exon:3813A>G (human) CTD Direct Evidence: marker/mechanism DNA, mRNA:hypermethylation, increased expression:promoter, hypothalamus DNA:hypermethylation:promoter, peripheral blood mononuclear cell |
CTD RGD |
PMID:18722357 PMID:17292652 PMID:17405839 PMID:19325539 PMID:19530697 PMID:31258545 PMID:31258545 More...
|
RGD:1626326, RGD:1626325, RGD:2314630, RGD:2314629, RGD:401827956, RGD:401827956 |
NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
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|
G |
Cntf |
ciliary neurotrophic factor |
no_association |
ISO |
DNA:point mutation:intron:G>A |
RGD |
PMID:12404108 PMID:14747836 |
RGD:1626113, RGD:1626114 |
NCBI chr19:12,740,892...12,742,996
Ensembl chr19:12,741,024...12,742,996
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|
G |
Col1a1 |
collagen, type I, alpha 1 |
|
ISO |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:28746409 |
RGD:401965413 |
NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
|
|
G |
Col3a1 |
collagen, type III, alpha 1 |
|
ISO |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:28746409 |
RGD:401965413 |
NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866
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|
G |
Col4a1 |
collagen, type IV, alpha 1 |
|
ISO |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:28746409 |
RGD:401965413 |
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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|
G |
Comt |
catechol-O-methyltransferase |
susceptibility |
ISO |
DNA:polymorphism:exon |
RGD |
PMID:17497175 |
RGD:2289713 |
NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602
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|
G |
Cox7c |
cytochrome c oxidase subunit 7C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr13:86,192,917...86,194,914
Ensembl chr13:86,192,935...86,195,023
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|
G |
Cox8b |
cytochrome c oxidase subunit 8B |
|
ISO |
|
RGD |
PMID:16027000 |
RGD:2301397 |
NCBI chr 7:140,478,855...140,480,359
Ensembl chr 7:140,478,858...140,480,359
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|
G |
Cpb2 |
carboxypeptidase B2 |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16959692 PMID:11836301 |
RGD:2313645 |
NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995
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|
G |
Cpe |
carboxypeptidase E |
no_association |
IAGP ISO |
DNA:transition:CDS:729T>C, amino acid S202P; decreased activity results in decrease in processing of proinsulin CTD Direct Evidence: marker/mechanism OMIM:601665 DNA:SNP:intron (rs1946816, rs4481204) (human) |
CTD MouseDO RGD |
PMID:15358678 PMID:23434795 PMID:7663508 PMID:9662053 PMID:23900445 |
RGD:1626181, RGD:1626184, RGD:405650675 |
NCBI chr 8:65,045,576...65,146,143
Ensembl chr 8:65,045,576...65,146,088
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|
G |
Cps1 |
carbamoyl-phosphate synthetase 1 |
|
ISO |
|
RGD |
PMID:15481768 |
RGD:2303517 |
NCBI chr 1:67,151,294...67,270,426
Ensembl chr 1:67,162,185...67,270,418
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|
G |
Cpt1a |
carnitine palmitoyltransferase 1a, liver |
treatment |
ISO |
mRNA:decreased expression:liver mRNA:decreased expression:left ventricle myocardium (rat) |
RGD |
PMID:16751799 PMID:33310031 |
RGD:2311345, RGD:329955450 |
NCBI chr19:3,372,328...3,435,735
Ensembl chr19:3,372,334...3,435,733
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G |
Crh |
corticotropin releasing hormone |
|
ISO |
|
RGD |
PMID:11564446 |
RGD:5508830 |
NCBI chr 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560
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|
G |
Crhbp |
corticotropin releasing hormone binding protein |
|
ISO |
mRNA:decreased expression:anterior pituitary gland (rat) |
RGD |
PMID:10600923 |
RGD:5508840 |
NCBI chr13:95,567,884...95,581,339
Ensembl chr13:95,567,879...95,581,432
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|
G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
|
ISO |
DNA:SNP:CDS:861C>T (human) |
RGD |
PMID:14724656 |
RGD:1626226 |
NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349
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|
G |
Crp |
C-reactive protein, pentraxin-related |
disease_progression |
ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver (rat) |
CTD RGD |
PMID:24042701 PMID:20660932 PMID:25612518 |
RGD:5490970, RGD:15045599 |
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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G |
Cs |
citrate synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr10:128,173,596...128,198,351
Ensembl chr10:128,173,603...128,198,348
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G |
Cst3 |
cystatin C |
|
ISO |
protein:increased expression:plasma (rat) protein:increased expression:serum (human) |
RGD |
PMID:18946178 PMID:18374694 |
RGD:2314297, RGD:2314346 |
NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
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G |
Ctf1 |
cardiotrophin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21803294 |
|
NCBI chr 7:127,311,872...127,317,360
Ensembl chr 7:127,311,908...127,317,364
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G |
Ctsc |
cathepsin C |
|
ISO |
|
RGD |
PMID:3705543 |
RGD:1599645 |
NCBI chr 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096
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|
G |
Ctss |
cathepsin S |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21156398 |
|
NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
DNA:SNP: :p.T280M (human) |
RGD |
PMID:20523302 |
RGD:4891903 |
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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|
G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
|
IMP |
|
RGD |
PMID:25016030 |
RGD:13673852 |
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
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|
G |
Cyb5a |
cytochrome b5 type A (microsomal) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr18:84,869,463...84,897,996
Ensembl chr18:84,856,829...84,897,996
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G |
Cycs |
cytochrome c, somatic |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16317704 |
|
NCBI chr 6:50,539,543...50,543,549
Ensembl chr 6:50,539,543...50,543,518
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|
G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:27036855 |
|
NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490
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|
G |
Cyp26b1 |
cytochrome P450, 26, retinoic acid B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 6:84,548,396...84,570,890
Ensembl chr 6:84,548,396...84,570,890
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|
G |
Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) |
RGD |
PMID:17223345 |
RGD:2307312 |
NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875
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|
G |
Cyp2b10 |
cytochrome P450, family 2, subfamily b, polypeptide 10 |
|
ISO |
|
RGD |
PMID:18589557 |
RGD:2301455 |
NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049
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|
G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
protein:increased activity:liver,fat CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23954404 PMID:17049493 |
RGD:1626307 |
NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900
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|
G |
Cyp2r1 |
cytochrome P450, family 2, subfamily r, polypeptide 1 |
|
ISO |
associated with hypertension:DNA:SNP:CDS: rs12794714 (human) |
RGD |
PMID:34906413 |
RGD:401900724 |
NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207
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G |
Dcn |
decorin |
|
IEP |
|
RGD |
PMID:17244723 |
RGD:1600551 |
NCBI chr10:97,315,362...97,354,025
Ensembl chr10:97,315,471...97,354,005
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|
G |
Dcxr |
dicarbonyl L-xylulose reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr11:120,615,372...120,618,110
Ensembl chr11:120,616,225...120,618,107
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|
G |
Ddhd2 |
DDHD domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:23176823 PMID:24337409 PMID:24517879 PMID:25417924 PMID:25741868 PMID:28492532 PMID:32488064 More...
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|
NCBI chr 8:26,215,351...26,244,502
Ensembl chr 8:26,215,373...26,244,624
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|
G |
Ddit3 |
DNA-damage inducible transcript 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26655953 |
|
NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157 Ensembl chr10:127,126,643...127,132,157
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G |
Deaf1 |
DEAF1, transcription factor |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:140,877,089...140,918,758
Ensembl chr 7:140,877,093...140,907,603
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|
G |
Defb1 |
defensin beta 1 |
|
ISO |
mRNA:decreased expression:kidney |
RGD |
PMID:11340353 |
RGD:4892260 |
NCBI chr 8:22,266,571...22,285,201
Ensembl chr 8:22,266,615...22,285,201
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|
G |
Dgat1 |
diacylglycerol O-acyltransferase 1 |
no_association treatment |
ISO IMP |
|
RGD |
PMID:14569040 PMID:10802663 PMID:18183944 |
RGD:1625597, RGD:734536, RGD:10401058 |
NCBI chr15:76,386,215...76,396,167
Ensembl chr15:76,386,215...76,396,153
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|
G |
Dio2 |
deiodinase, iodothyronine, type II |
no_association |
ISO |
|
RGD |
PMID:17077128 |
RGD:1626439 |
NCBI chr12:90,691,326...90,705,812
Ensembl chr12:90,691,326...90,705,812
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|
G |
Dip2c |
disco interacting protein 2 homolog C |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
|
NCBI chr13:9,326,530...9,718,964
Ensembl chr13:9,326,564...9,718,964
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|
G |
Dixdc1 |
DIX domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr 9:50,574,052...50,650,900
Ensembl chr 9:50,574,052...50,650,817
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|
G |
Dnm1l |
dynamin 1-like |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:26825290 PMID:27328748 PMID:28492532 |
|
NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823
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|
G |
Dnmt3a |
DNA methyltransferase 3A |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:24614070 PMID:25741868 PMID:28492532 |
|
NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443
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|
G |
Dpyd |
dihydropyrimidine dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573
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|
G |
Drd1 |
dopamine receptor D1 |
treatment |
ISO |
protein:increased serine phosphorylation:renal proximal tubule, membrane (rat) |
RGD |
PMID:15983225 PMID:15983225 PMID:17191082 |
RGD:7248449, RGD:7248449, RGD:7248552 |
NCBI chr13:54,205,202...54,209,677
Ensembl chr13:54,205,202...54,209,724
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|
G |
Drd2 |
dopamine receptor D2 |
|
ISO |
mRNA:decreased expression:ventral tegmental area (rat) DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple |
RGD |
PMID:18477764 PMID:17108814 PMID:15939106 |
RGD:2311581, RGD:1600904, RGD:1600905 |
NCBI chr 9:49,251,703...49,319,468
Ensembl chr 9:49,251,927...49,319,477
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|
G |
Drd4 |
dopamine receptor D4 |
|
ISO |
protein:decreased expression:kidney (rat) |
RGD GAD |
PMID:20810614 PMID:15118671 |
RGD:7248616, RGD:1331525 |
NCBI chr 7:140,871,931...140,874,868
Ensembl chr 7:140,871,919...140,876,377
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|
G |
Dusp1 |
dual specificity phosphatase 1 |
susceptibility |
IAGP |
|
RGD |
PMID:16814733 |
RGD:2298673 |
NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102
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|
G |
Ech1 |
enoyl coenzyme A hydratase 1, peroxisomal |
treatment |
IDA |
|
RGD |
PMID:31961704 |
RGD:21408561 |
NCBI chr 7:28,524,763...28,531,664
Ensembl chr 7:28,524,642...28,531,672
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|
G |
Echs1 |
enoyl Coenzyme A hydratase, short chain, 1, mitochondrial |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 7:139,685,623...139,696,334
Ensembl chr 7:139,685,623...139,696,389
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|
G |
Edn1 |
endothelin 1 |
|
ISO |
DNA:polymorphism:exon:p.K198N (human) |
RGD |
PMID:17444275 |
RGD:1625065 |
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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|
G |
Efnb1 |
ephrin B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24098442 |
|
NCBI chr X:98,179,667...98,192,628
Ensembl chr X:98,179,736...98,192,597
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|
G |
Egfr |
epidermal growth factor receptor |
|
IEP |
protein:decreased phosphorylation:liver (mouse) |
RGD |
PMID:3624263 |
RGD:5131534 |
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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|
G |
Ehd1 |
EH-domain containing 1 |
|
ISO |
|
RGD |
PMID:21365757 |
RGD:8661255 |
NCBI chr19:6,326,926...6,350,126
Ensembl chr19:6,326,755...6,350,126
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|
G |
Elovl6 |
ELOVL fatty acid elongase 6 |
|
IEP |
mRNA,protein:increased expression:liver: |
RGD |
PMID:31988048 |
RGD:21403676 |
NCBI chr 3:129,326,035...129,432,144
Ensembl chr 3:129,326,004...129,432,144
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|
G |
Emc1 |
ER membrane protein complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:26572623 PMID:26942288 PMID:28492532 PMID:29271071 |
|
NCBI chr 4:139,079,898...139,106,046
Ensembl chr 4:139,079,898...139,106,041
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
ISO |
Obesity, OMIM:601665;DNA:polymorphism CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity |
CTD ClinVar OMIM RGD |
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:16025115 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:20016754 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:25741868 PMID:27238374 PMID:28377967 PMID:28492532 PMID:29979387 PMID:35738466 PMID:16025115 More...
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RGD:1601042 |
NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
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|
G |
Entpd6 |
ectonucleoside triphosphate diphosphohydrolase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
|
NCBI chr 2:150,590,959...150,613,595
Ensembl chr 2:150,590,962...150,613,595
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|
G |
Ep300 |
E1A binding protein p300 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26441656 |
|
NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
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|
G |
Esr1 |
estrogen receptor 1 (alpha) |
|
IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20667977 PMID:11095962 PMID:22230815 |
RGD:8553065, RGD:8553199 |
NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
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G |
Esr2 |
estrogen receptor 2 (beta) |
|
ISO |
|
RGD |
PMID:22230815 |
RGD:8553199 |
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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G |
Esrra |
estrogen related receptor, alpha |
no_association |
ISO |
|
RGD |
PMID:16755280 |
RGD:1625637 |
NCBI chr19:6,888,345...6,899,182
Ensembl chr19:6,888,345...6,899,208
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|
G |
Etfdh |
electron transferring flavoprotein, dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 3:79,511,095...79,536,074
Ensembl chr 3:79,511,095...79,536,807
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|
G |
F2 |
coagulation factor II |
|
ISO IDA |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22841818 PMID:21210148 PMID:23628972 |
RGD:5147773, RGD:7387310 |
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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|
G |
F7 |
coagulation factor VII |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) |
RGD |
PMID:14513073 PMID:16739871 PMID:19329212 PMID:9258277 |
RGD:2312395, RGD:1625710, RGD:2312379, RGD:2312404 |
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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|
G |
Faah |
fatty acid amide hydrolase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19103437 PMID:20716455 PMID:15809662 |
RGD:1625726 |
NCBI chr 4:115,853,866...115,876,034
Ensembl chr 4:115,824,342...115,875,123
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|
G |
Fabp1 |
fatty acid binding protein 1, liver |
|
IAGP |
Western diet-induced obesity; DNA:mutation::Fabp1 knockout mice |
RGD |
PMID:17058218 |
RGD:1626440 |
NCBI chr 6:71,176,863...71,182,018
Ensembl chr 6:71,176,811...71,182,007
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|
G |
Fabp2 |
fatty acid binding protein 2, intestinal |
onset no_association |
ISO |
DNA:polymorphism:CDS:p.A54T (human) |
RGD |
PMID:14981227 PMID:15620432 PMID:17211557 |
RGD:1626400, RGD:1578458, RGD:1626407 |
NCBI chr 3:122,688,721...122,693,155
Ensembl chr 3:122,688,721...122,693,155
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|
G |
Fabp3 |
fatty acid binding protein 3, muscle and heart |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:decreased expression:skeletal muscle |
RGD |
PMID:17515913 |
RGD:2307328 |
NCBI chr 4:130,202,531...130,209,256
Ensembl chr 4:130,202,388...130,209,256
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|
G |
Fabp4 |
fatty acid binding protein 4, adipocyte |
|
IMP |
|
RGD |
PMID:8910278 |
RGD:737747 |
NCBI chr 3:10,269,406...10,273,653
Ensembl chr 3:10,269,148...10,273,636
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G |
Fadd |
Fas associated via death domain |
|
ISO |
protein:increased expression:heart left ventricle |
RGD |
PMID:18202171 |
RGD:2293027 |
NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200
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G |
Fads1 |
fatty acid desaturase 1 |
|
ISO |
protein:decreased expression:microsomes, liver |
RGD |
PMID:8446010 |
RGD:1625421 |
NCBI chr19:10,160,245...10,174,238
Ensembl chr19:10,160,252...10,174,241
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G |
Fanca |
Fanconi anemia, complementation group A |
|
IMP |
|
RGD |
PMID:22482891 |
RGD:11046266 |
NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
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|
G |
Fancc |
Fanconi anemia, complementation group C |
|
IMP |
|
RGD |
PMID:22482891 |
RGD:11046266 |
NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092
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|
G |
Fasn |
fatty acid synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr11:120,696,784...120,715,992
Ensembl chr11:120,696,672...120,715,373
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|
G |
Fbxo11 |
F-box protein 11 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr17:88,298,287...88,373,473
Ensembl chr17:88,298,287...88,372,719
|
|
G |
Fgf21 |
fibroblast growth factor 21 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24184811 PMID:26797127 |
|
NCBI chr 7:45,263,314...45,264,914
Ensembl chr 7:45,263,310...45,264,914
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|
G |
Fgfr1 |
fibroblast growth factor receptor 1 |
|
ISO |
mRNA:increased expression:hypothalamus: mRNA:increased expression:adipose tissue: |
RGD |
PMID:21430024 PMID:21430024 |
RGD:10402094, RGD:10402094 |
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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|
G |
Fgg |
fibrinogen gamma chain |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:22134356 |
RGD:11352709 |
NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356
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|
G |
Fggy |
FGGY carbohydrate kinase domain containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29220483 |
|
NCBI chr 4:95,445,717...95,815,176
Ensembl chr 4:95,445,744...95,815,176
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|
G |
Fos |
FBJ osteosarcoma oncogene |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27071101 |
|
NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047
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|
G |
Foxa2 |
forkhead box A2 |
|
IAGP |
|
RGD |
PMID:12865419 |
RGD:1627574 |
NCBI chr 2:147,884,797...147,888,889
Ensembl chr 2:147,884,797...147,888,889
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|
G |
Foxc2 |
forkhead box C2 |
|
ISO |
DNA:polymorphism:5'ut:-512C>T(human) |
RGD |
PMID:15601967 |
RGD:1601218 |
NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634
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|
G |
Foxo3 |
forkhead box O3 |
|
ISO |
protein:increased expression:myocardium: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23954404 PMID:16467659 |
RGD:10402201 |
NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751
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|
G |
Ftl1 |
ferritin light polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 7:45,107,368...45,109,310
Ensembl chr 7:45,107,368...45,109,308
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|
G |
Fto |
FTO alpha-ketoglutarate dependent dioxygenase |
severity |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP:intron:rs9939609 (human) DNA:SNP: :rs9939609 (human) DNA:SNP:intron:rs17817449 (human) DNA:SNPs: :rs9939609, rs1421085, rs17817449 (human) DNA:SNP: :rs3751812 (human) mRNA:increased expression:pancreas mRNA, protein:increased expression:liver |
CTD RGD |
PMID:17496892 PMID:19079260 PMID:19079261 PMID:19151714 PMID:19918250 PMID:21076408 PMID:23134754 PMID:23111453 PMID:31801409 PMID:21919686 PMID:29540276 PMID:25606423 PMID:32420297 PMID:35945320 More...
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RGD:329812007, RGD:329812010, RGD:329812016, RGD:329812040, RGD:329845887, RGD:329901774, RGD:329951013, RGD:329951016 |
NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067
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|
G |
Fxn |
frataxin |
|
IMP |
DNA:deletion:exon (mouse) |
RGD |
PMID:17404227 |
RGD:2307045 |
NCBI chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969
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G |
G6pdx |
glucose-6-phosphate dehydrogenase X-linked |
|
IEP ISO |
mRNA, protein:increased expression:white fat associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:liver |
RGD |
PMID:15923630 PMID:19230846 |
RGD:2307347, RGD:2307340 |
NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800
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|
G |
Gabra6 |
gamma-aminobutyric acid type A receptor subunit alpha 6 |
|
ISO |
DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism |
RGD |
PMID:12080446 |
RGD:1626491 |
NCBI chr11:42,197,264...42,211,977
Ensembl chr11:42,197,264...42,211,899
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|
G |
Gal |
galanin and GMAP prepropeptide |
no_association |
ISO |
protein:increased expression:plasma |
RGD |
PMID:15930442 PMID:11220530 |
RGD:1625748, RGD:1624334 |
NCBI chr19:3,459,915...3,464,544
Ensembl chr19:3,459,915...3,464,544
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|
G |
Galp |
galanin-like peptide |
|
ISO |
mRNA:decreased expression:arcuate nucleus |
RGD |
PMID:15256810 |
RGD:2313739 |
NCBI chr 7:6,200,089...6,219,136
Ensembl chr 7:6,200,089...6,219,136
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|
G |
Galr1 |
galanin receptor 1 |
no_association |
ISO |
|
RGD |
PMID:15930442 |
RGD:1625748 |
NCBI chr18:82,410,621...82,424,902
Ensembl chr18:82,410,505...82,424,902
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|
G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
treatment |
ISO |
|
RGD |
PMID:27987997 |
RGD:13792668 |
NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430
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|
G |
Gas7 |
growth arrest specific 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270708 |
|
NCBI chr11:67,344,083...67,579,818
Ensembl chr11:67,345,917...67,575,800
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|
G |
Gcg |
glucagon |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20065960 |
|
NCBI chr 2:62,304,874...62,313,997
Ensembl chr 2:62,304,874...62,313,994
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G |
Gck |
glucokinase |
|
ISO |
DNA, mRNA, protein:hypermethylation, increased expression:liver |
RGD |
PMID:21239437 |
RGD:7488967 |
NCBI chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081
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G |
Gckr |
glucokinase regulatory protein |
no_association |
ISO |
|
RGD |
PMID:12739015 |
RGD:1626607 |
NCBI chr 5:31,454,594...31,484,646
Ensembl chr 5:31,454,787...31,484,658
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G |
Gfpt1 |
glutamine fructose-6-phosphate transaminase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20882379 PMID:11118009 |
RGD:1625423 |
NCBI chr 6:87,019,828...87,069,189
Ensembl chr 6:87,019,828...87,069,179
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|
G |
Gh |
growth hormone |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8923850 |
|
NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691
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|
G |
Ghrl |
ghrelin |
susceptibility |
ISO |
ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, age at onset of CTD Direct Evidence: marker/mechanism DNA:SNP:intron (rs35683) (human) |
ClinVar OMIM CTD RGD |
PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868 PMID:23900445 More...
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RGD:405650675 |
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
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G |
Ghsr |
growth hormone secretagogue receptor |
|
ISO |
DNA:point mutation:exon:F279L |
RGD |
PMID:16511600 |
RGD:1625270 |
NCBI chr 3:27,425,500...27,433,384
Ensembl chr 3:27,425,500...27,432,159
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|
G |
Gip |
gastric inhibitory polypeptide |
|
ISO |
protein:increased expression:plasma (rat) associated with Polycystic Ovary Syndrome; protein:increased expression:plasma (human) |
RGD |
PMID:3546047 PMID:18063845 PMID:19375579 |
RGD:2312551, RGD:2312547, RGD:2312588 |
NCBI chr11:95,915,358...95,921,657
Ensembl chr11:95,915,371...95,921,657
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|
G |
Gipr |
gastric inhibitory polypeptide receptor |
susceptibility |
ISO IMP IEP |
DNA:polymorphism:intron 1 C>A (rs2302382) (human) mRNA:splice variant:pancreatic islet (mouse) mRNA:reduced expression:fat tissue (human) |
RGD |
PMID:19254363 PMID:12068290 PMID:17971513 PMID:17395281 |
RGD:2312615, RGD:737714, RGD:2312612, RGD:2312616 |
NCBI chr 7:18,889,988...18,904,173
Ensembl chr 7:18,889,986...18,900,052
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|
G |
Gja5 |
gap junction protein, alpha 5 |
|
ISO |
mRNA, protein:decreased expression:mesenteric artery |
RGD |
PMID:18324386 |
RGD:7207466 |
NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732
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|
G |
Gldc |
glycine decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Obesity, autosomal dominant |
ClinVar |
PMID:10873393 PMID:11286506 PMID:12126939 PMID:15670722 PMID:15791207 PMID:17361008 PMID:20301531 PMID:25741868 PMID:26179960 PMID:27362913 PMID:28492532 More...
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|
NCBI chr19:30,075,847...30,152,829
Ensembl chr19:30,075,847...30,152,829
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|
G |
Glp1r |
glucagon-like peptide 1 receptor |
|
ISO |
mRNA:decreased expression:hypothalamus medial zone DNA:SNP:intron (rs2268641) (human) |
RGD |
PMID:15279492 PMID:23900445 |
RGD:1624351, RGD:405650675 |
NCBI chr17:31,120,841...31,155,484
Ensembl chr17:31,120,791...31,159,765
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G |
Glrx |
glutaredoxin |
|
ISO |
protein:increased expression:renal visceral adipose: |
RGD |
PMID:23404913 |
RGD:9686064 |
NCBI chr13:75,988,004...75,998,270
Ensembl chr13:75,987,987...75,998,273
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|
G |
Glul |
glutamate-ammonia ligase |
|
ISO |
protein:increased activity:skeletal muscle:activity is increased in Zucker fa/fa genetically obese but not dietary obese (fa/?) rats vs non-obese (fa/?) rats CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20882379 PMID:15481771 |
RGD:2301479 |
NCBI chr 1:153,775,692...153,785,469
Ensembl chr 1:153,775,690...153,785,469
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G |
Gnas |
GNAS complex locus |
|
ISO |
CTD Direct Evidence: marker/mechanism associated with Polycystic Ovary Syndrome;DNA:polymorphism: :393T>C (human) ClinVar Annotator: match by term: Obesity |
CTD ClinVar RGD |
PMID:11784876 PMID:12970262 PMID:17062894 PMID:21525160 PMID:23281139 PMID:23796510 PMID:25741868 PMID:25802881 PMID:28492532 PMID:29059381 PMID:17062894 More...
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RGD:11568045 |
NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
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|
G |
Gnb3 |
guanine nucleotide binding protein (G protein), beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15961981 PMID:16141801 |
|
NCBI chr 6:124,811,203...124,817,238
Ensembl chr 6:124,811,203...124,817,238
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|
G |
Gnpda2 |
glucosamine-6-phosphate deaminase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079261 |
|
NCBI chr 5:69,732,344...69,749,684
Ensembl chr 5:69,730,451...69,749,683
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|
G |
Got2 |
glutamatic-oxaloacetic transaminase 2, mitochondrial |
|
ISO |
protein:increased expression:skeletal muscle tissue, T-tubule (rat) |
RGD |
PMID:23743348 |
RGD:11041118 |
NCBI chr 8:96,590,761...96,615,029
Ensembl chr 8:96,590,762...96,615,175
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|
G |
Gpam |
glycerol-3-phosphate acyltransferase, mitochondrial |
|
ISO |
mRNA:increased expression:pancreatic islet |
RGD |
PMID:9032096 |
RGD:2313659 |
NCBI chr19:55,056,067...55,115,666
Ensembl chr19:55,055,700...55,115,670
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G |
Gpr12 |
G-protein coupled receptor 12 |
|
IAGP |
OMIM:601665 |
MouseDO |
|
|
NCBI chr 5:146,518,960...146,523,274
Ensembl chr 5:146,519,208...146,522,049
|
|
G |
Gpr17 |
G protein-coupled receptor 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34144038 |
|
NCBI chr18:32,076,052...32,082,925
Ensembl chr18:32,076,050...32,082,689
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|
G |
Gpt2 |
glutamic pyruvate transaminase (alanine aminotransferase) 2 |
|
IEP |
protein:increased expression, activity:liver: |
RGD |
PMID:25865565 |
RGD:11342811 |
NCBI chr 8:86,219,090...86,255,531
Ensembl chr 8:86,219,205...86,254,189
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|
G |
Gpx1 |
glutathione peroxidase 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15184668 PMID:30298849 |
RGD:401960083 |
NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
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|
G |
Gpx3 |
glutathione peroxidase 3 |
treatment |
IEP ISO |
protein:decreased expression, activity:plasma (mouse) mRNA:decreased expression:adipose tissue (rat) CTD Direct Evidence: marker/mechanism mRNA:decreased expression:embryo, blastocyst protein:decreased expression:plasma |
CTD RGD |
PMID:11328671 PMID:19270708 PMID:18562625 PMID:19212806 PMID:21862610 PMID:31791316 PMID:21535898 More...
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RGD:2312633, RGD:2307430, RGD:5683906, RGD:401827913, RGD:401827923 |
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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|
G |
Gria4 |
glutamate receptor, ionotropic, AMPA4 (alpha 4) |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr 9:4,417,893...4,796,250
Ensembl chr 9:4,417,896...4,796,234
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|
G |
Gsta4 |
glutathione S-transferase, alpha 4 |
|
IEP |
mRNA:decreased expression:gonadal fat pad (mouse) |
RGD |
PMID:20150287 |
RGD:5687771 |
NCBI chr 9:78,099,248...78,116,631
Ensembl chr 9:78,090,056...78,116,631
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|
G |
Gstt1 |
glutathione S-transferase, theta 1 |
|
ISO |
mRNA:decreased expression:liver |
RGD |
PMID:31063713 |
RGD:14701042 |
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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|
G |
Gucy2c |
guanylate cyclase 2c |
|
IAGP |
OMIM:601665 |
MouseDO |
|
|
NCBI chr 6:136,674,282...136,758,740
Ensembl chr 6:136,674,282...136,758,763
|
|
G |
Hadh |
hydroxyacyl-Coenzyme A dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20882379 PMID:16088331 |
RGD:2302228 |
NCBI chr 3:131,027,068...131,065,750
Ensembl chr 3:131,027,068...131,065,750
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|
G |
Hcrt |
hypocretin |
|
IEP ISO |
mRNA:increased expression:perifornical nucleus CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27071101 PMID:12560202 |
RGD:1358428 |
NCBI chr11:100,652,519...100,653,757
Ensembl chr11:100,651,895...100,653,757
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|
G |
Hdac4 |
histone deacetylase 4 |
|
ISO |
mRNA,protein:decreased expression:mononuclear cell, adipose tissue: |
RGD |
PMID:24086512 |
RGD:9681453 |
NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421
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|
G |
Hfe |
homeostatic iron regulator |
|
ISO |
associated with Diabetes Mellitus, Type 2;DNA:missense mutations:CDS:p.C282Y, p.H63D (human) |
RGD |
PMID:10705106 |
RGD:1601449 |
NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
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|
G |
Hgf |
hepatocyte growth factor |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:12706940 |
RGD:1642704 |
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
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|
G |
Hif1a |
hypoxia inducible factor 1, alpha subunit |
|
ISO |
associated with hepatocellular carcinoma;RNA:decreased expression:liver: |
RGD |
PMID:31321740 |
RGD:155882550 |
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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|
G |
Hk1 |
hexokinase 1 |
susceptibility |
ISO |
|
RGD |
PMID:12524468 PMID:131232 |
RGD:1601528, RGD:1601527 |
NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687
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|
G |
Hk2 |
hexokinase 2 |
|
ISO |
mRNA:increased expression:gastrocnemius CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20882379 PMID:16555472 PMID:11319725 |
RGD:1624365, RGD:2313227 |
NCBI chr 6:82,702,004...82,751,437
Ensembl chr 6:82,702,006...82,751,435
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|
G |
Hmga2 |
high mobility group AT-hook 2 |
|
IDA |
|
RGD |
PMID:10742101 |
RGD:1601569 |
NCBI chr10:120,197,173...120,312,374
Ensembl chr10:120,197,180...120,312,374
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|
G |
Hmgb2 |
high mobility group box 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 8:57,964,877...57,969,033
Ensembl chr 8:57,964,941...57,969,033
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|
G |
Hmgcs1 |
3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 |
|
ISO |
protein:decreased activity:liver (rat) |
RGD |
PMID:1685984 |
RGD:2326155 |
NCBI chr13:120,151,887...120,169,796
Ensembl chr13:120,151,915...120,169,796
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|
G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18334666 PMID:18375438 PMID:19171794 |
|
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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|
G |
Hoxb5 |
homeobox B5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22484627 |
|
NCBI chr11:96,194,338...96,196,947
Ensembl chr11:96,194,162...96,196,947
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|
G |
Hp |
haptoglobin |
treatment |
ISO IEP |
protein:increased expression:serum mRNA:increased expression:white fat |
RGD |
PMID:15181041 PMID:11807829 PMID:17161237 PMID:19917068 |
RGD:1626346, RGD:1626349, RGD:1626339, RGD:9685197 |
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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G |
Hrh3 |
histamine receptor H3 |
|
ISO |
|
RGD |
PMID:17189541 |
RGD:1626405 |
NCBI chr 2:179,741,258...179,746,264
Ensembl chr 2:179,741,258...179,746,281
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G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17628001 PMID:21786805 PMID:16612591 PMID:16914598 PMID:15118671 |
RGD:1625072, RGD:1625071, RGD:1331525 |
NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383
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|
G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
resistance |
IDA ISO |
transgenic mice expressing human HSD11B2 mRNA:increased expression:adipose tissue:subcutaneous not retroperitoneal fat |
RGD |
PMID:17208436 PMID:15793240 |
RGD:1625081, RGD:1625083 |
NCBI chr 8:106,245,378...106,250,620
Ensembl chr 8:106,245,387...106,250,620
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|
G |
Hspa1b |
heat shock protein 1B |
|
ISO |
DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p<0.000001) |
RGD |
PMID:11319647 |
RGD:1626642 |
NCBI chr17:35,175,405...35,178,214
Ensembl chr17:35,175,412...35,178,214
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G |
Hspa5 |
heat shock protein 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26655953 |
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NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559
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G |
Htr1b |
5-hydroxytryptamine (serotonin) receptor 1B |
|
ISO |
protein:increase expression:arcuate nucleus |
RGD |
PMID:10564740 |
RGD:1626450 |
NCBI chr 9:81,510,344...81,515,885
Ensembl chr 9:81,510,344...81,515,881
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G |
Htr2a |
5-hydroxytryptamine (serotonin) receptor 2A |
susceptibility no_association |
ISO |
DNA:polymorphism:promoter:-1438G>A CTD Direct Evidence: marker/mechanism DNA:SNP:intron (rs912127) (human) |
CTD RGD |
PMID:16491645 PMID:17097612 PMID:16328014 PMID:16491645 PMID:23900445 |
RGD:1624369, RGD:1624370, RGD:1624369, RGD:405650675 |
NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934
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G |
Htr2c |
5-hydroxytryptamine (serotonin) receptor 2C |
susceptibility |
ISO |
DNA:polymorphism:promoter:-759C>T associated with Schizophrenia and Psychotic Disorders;DNA:polymorphisms:promoter:multiple CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17702092 PMID:19142110 PMID:15048662 PMID:17016522 |
RGD:1624991, RGD:1624982 |
NCBI chr X:145,745,509...145,980,273
Ensembl chr X:145,745,509...145,980,273
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G |
Icam1 |
intercellular adhesion molecule 1 |
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ISO |
protein:increased secretion:plasma (human) protein:increased expression:submandibular gland (rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11782876 PMID:20004360 PMID:20973827 |
RGD:4145463, RGD:4145329 |
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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G |
Idh1 |
isocitrate dehydrogenase 1 (NADP+), soluble |
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IDA |
|
RGD |
PMID:14969338 |
RGD:1626475 |
NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
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G |
Ido1 |
indoleamine 2,3-dioxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27020609 |
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NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
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G |
Ifng |
interferon gamma |
|
ISO |
associated with Asthma;protein:increased expression:serum |
RGD |
PMID:19575934 |
RGD:2311494 |
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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G |
Igf1r |
insulin-like growth factor I receptor |
|
ISO |
mRNA:decreased expression:heart (rat) |
RGD |
PMID:11009458 |
RGD:12904882 |
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
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G |
Igf2 |
insulin-like growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11528401 |
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NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553
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G |
Igfbp2 |
insulin-like growth factor binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22537059 PMID:17259371 PMID:17426323 |
RGD:1626479, RGD:1626478 |
NCBI chr 1:72,863,650...72,891,633
Ensembl chr 1:72,863,662...72,891,633
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
mRNA, protein:decreased expression:pancreatic fat pad |
RGD |
PMID:22067319 |
RGD:10402755 |
NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
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G |
Igfbp6 |
insulin-like growth factor binding protein 6 |
|
ISO |
human transgene overexpressed in mouse brain |
RGD |
PMID:15889232 |
RGD:2301717 |
NCBI chr15:102,052,621...102,057,947
Ensembl chr15:102,052,797...102,057,946
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G |
Ikbkb |
inhibitor of kappaB kinase beta |
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IEP |
protein:increased expression:liver: |
RGD |
PMID:15685173 |
RGD:10045952 |
NCBI chr 8:23,149,228...23,196,605
Ensembl chr 8:23,149,228...23,196,605
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G |
Il10 |
interleukin 10 |
|
ISO |
protein:increase expression:serum |
RGD |
PMID:18787467 PMID:28843383 |
RGD:2308945, RGD:14975146 |
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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G |
Il15 |
interleukin 15 |
|
ISO |
mRNA, protein:altered expression:skeletal muscle, plasma |
RGD |
PMID:18697873 |
RGD:2313573 |
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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G |
Il18 |
interleukin 18 |
treatment |
ISO IMP |
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RGD |
PMID:20490358 PMID:16732281 |
RGD:7175343, RGD:14695532 |
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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G |
Il1b |
interleukin 1 beta |
treatment |
IAGP IEP ISO IDA |
protein:increased expression:plasma (mouse) protein:increased expression:kidney (rat) |
RGD |
PMID:16567518 PMID:23150506 PMID:20490358 PMID:24146106 PMID:28843383 |
RGD:1626637, RGD:7175086, RGD:7175343, RGD:10450599, RGD:14975146 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO IAGP |
mRNA, protein:increased expression:adipose tissue |
RGD |
PMID:12716739 PMID:12975454 |
RGD:1626665, RGD:1626664 |
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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G |
Il3 |
interleukin 3 |
|
ISO |
protein: decreased expression: plasma |
RGD |
PMID:21203453 |
RGD:5686875 |
NCBI chr11:54,155,911...54,158,105
Ensembl chr11:54,156,129...54,158,103
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G |
Il6 |
interleukin 6 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) mRNA:increased expression:islet of Langerhans CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20141834 PMID:24042701 PMID:16493118 PMID:19228869 PMID:21826222 |
RGD:1601582, RGD:2307257, RGD:10402828 |
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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G |
Il6ra |
interleukin 6 receptor, alpha |
susceptibility |
ISO |
protein:increased expression:serum DNA:polymorphism: :p.D358A DNA:duplication DNA:SNP, haplotypes:promoter:-208G>A (rs4845617) (human) |
RGD |
PMID:17434052 PMID:16817825 PMID:12917504 PMID:17984249 |
RGD:1625429, RGD:1625430, RGD:1625428, RGD:10402807 |
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
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G |
Il7 |
interleukin 7 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20376352 |
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NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism protein:increased expression:skeletal muscle, white adipose tissue |
CTD RGD |
PMID:19668215 PMID:23349329 PMID:23349329 |
RGD:12911211, RGD:12911211 |
NCBI chr 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215
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G |
Inppl1 |
inositol polyphosphate phosphatase-like 1 |
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ISO |
DNA:SNPs: :rs2276047,snp8,rs9886(human) |
RGD |
PMID:15220217 |
RGD:1626127 |
NCBI chr 7:101,471,839...101,487,419
Ensembl chr 7:101,471,839...101,487,436
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G |
Ins2 |
insulin II |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2777199 PMID:8923850 PMID:11528401 PMID:29035695 |
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NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
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G |
Irs1 |
insulin receptor substrate 1 |
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ISO |
protein:decreased tyrosine phosphorylation, increased serine phosphorylation:skeletal muscle CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23954404 PMID:22982470 |
RGD:7207062 |
NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137
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G |
Irs2 |
insulin receptor substrate 2 |
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ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458
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G |
Itgam |
integrin alpha M |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:monocyte (human) |
CTD RGD |
PMID:29035695 PMID:21446916 |
RGD:329901665 |
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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G |
Itih4 |
inter alpha-trypsin inhibitor, heavy chain 4 |
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ISO |
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RGD |
PMID:22134356 |
RGD:11352709 |
NCBI chr14:30,608,433...30,623,943
Ensembl chr14:30,608,433...30,624,310
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G |
Jak2 |
Janus kinase 2 |
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ISO |
protein:decreased expression:hypothalamus |
RGD |
PMID:14630696 PMID:23397595 |
RGD:1627661, RGD:10411893 |
NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
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G |
Jund |
jun D proto-oncogene |
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IEP |
mRNA,protein:increased expression:heart |
RGD |
PMID:30629164 |
RGD:401900736 |
NCBI chr 8:71,150,389...71,153,265
Ensembl chr 8:71,151,599...71,153,265
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G |
Kcnh2 |
potassium voltage-gated channel, subfamily H (eag-related), member 2 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:7889573 PMID:9024139 PMID:9927399 PMID:10753933 PMID:10973849 PMID:11113008 PMID:11468227 PMID:11668638 PMID:11854117 PMID:12354768 PMID:15051636 PMID:15840476 PMID:16432067 PMID:17160940 PMID:17445409 PMID:18441445 PMID:18593567 PMID:19716085 PMID:19841300 PMID:22581653 PMID:22949429 PMID:23303164 PMID:24606995 PMID:24623279 PMID:24667783 PMID:25741868 PMID:26847485 PMID:28492532 PMID:29672598 PMID:30246897 More...
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NCBI chr 5:24,524,583...24,556,671
Ensembl chr 5:24,524,587...24,556,602
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G |
Kcnma1 |
potassium large conductance calcium-activated channel, subfamily M, alpha member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27605626 |
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NCBI chr14:23,342,356...24,055,173
Ensembl chr14:23,339,499...24,064,559
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G |
Kctd15 |
potassium channel tetramerisation domain containing 15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079261 |
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NCBI chr 7:34,336,424...34,354,934
Ensembl chr 7:34,338,439...34,356,157
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G |
Kdm3a |
lysine (K)-specific demethylase 3A |
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IMP IAGP |
OMIM:601665 |
MouseDO RGD |
PMID:19875498 |
RGD:9590220 |
NCBI chr 6:71,565,954...71,609,963
Ensembl chr 6:71,565,956...71,609,974
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G |
Kif4 |
kinesin family member 4 |
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ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
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NCBI chr X:99,669,693...99,770,878
Ensembl chr X:99,669,343...99,770,820
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G |
Kitl |
kit ligand |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23954404 |
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NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278
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G |
Lactb |
lactamase, beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18344982 |
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NCBI chr 9:66,862,668...66,882,706
Ensembl chr 9:66,862,670...66,882,766
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G |
Lbp |
lipopolysaccharide binding protein |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23349936 PMID:19917068 |
RGD:9685197 |
NCBI chr 2:158,148,413...158,174,772
Ensembl chr 2:158,148,413...158,174,772
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G |
Lcn2 |
lipocalin 2 |
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ISO |
mRNA:increased expression:epididymal fat pad, adipose cell (rat) mRNA:decreased expression:ovary, testicle protein:increased expression:serum |
RGD |
PMID:18292240 PMID:32627017 PMID:21143924 |
RGD:2316514, RGD:126790490, RGD:126790530 |
NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
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G |
Ldlr |
low density lipoprotein receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25554529 PMID:15118671 |
RGD:1331525 |
NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215
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G |
Lep |
leptin |
no_association treatment |
ISO IMP IDA IAGP |
protein:increased expression:serum mouse protein in a rat model DNA:nonsense mutation:cds: OMIM:601665 ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity CTD Direct Evidence: marker/mechanism|therapeutic |
MouseDO ClinVar CTD RGD |
PMID:9202122 PMID:9502777 PMID:9826672 PMID:17517446 PMID:18515891 PMID:19913045 PMID:20122948 PMID:24042701 PMID:25086370 PMID:25551525 PMID:25554529 PMID:25741868 PMID:26186301 PMID:27071101 PMID:28492532 PMID:28698385 PMID:31313498 PMID:21075806 PMID:19726711 PMID:15910756 PMID:19267279 PMID:7624776 PMID:15118671 PMID:10029567 PMID:23793169 PMID:23800849 PMID:22948215 More...
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RGD:5128551, RGD:5128629, RGD:1643130, RGD:2311132, RGD:2311134, RGD:1331525, RGD:10053612, RGD:10053638, RGD:8549777, RGD:12904911 |
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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G |
Lepr |
leptin receptor |
susceptibility treatment no_association sexual_dimorphism disease_progression |
IEP ISO IMP IAGP |
mRNA:decreased expression:lung DNA:polymorphism:exon:p.Q223R (human) DNA:missense mutation: :p.Q269P (rat) protein:increased expression:hippocampus, astrocyte OMIM:601665 compared to heterozygous controls +/fa compared to BN compared to age-matched lean +/fa rats ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity CTD Direct Evidence: marker/mechanism DNA:mutations:cds: : (rat) DNA:mutations::cds: : (rat) |
MouseDO ClinVar CTD RGD |
PMID:3519326 PMID:8666155 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:17065336 PMID:17229951 PMID:17785359 PMID:18490929 PMID:19913045 PMID:20567778 PMID:21393862 PMID:21744741 PMID:22276206 PMID:22331430 PMID:23563609 PMID:24263156 PMID:25222487 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29743445 PMID:30689673 PMID:30993381 PMID:35235096 PMID:35472412 PMID:20592105 PMID:8841178 PMID:18204169 PMID:8702432 PMID:15118671 PMID:24785100 PMID:16284652 PMID:9545018 PMID:22693203 PMID:27465994 PMID:11500530 PMID:27225180 PMID:20159938 PMID:9843879 PMID:27465994 PMID:32710530 PMID:28746409 PMID:10901178 More...
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RGD:5129154, RGD:1600612, RGD:5128855, RGD:729297, RGD:1331525, RGD:10411891, RGD:10412018, RGD:10412023, RGD:10412038, RGD:12911217, RGD:628581, RGD:12910507, RGD:7365117, RGD:628910, RGD:12911217, RGD:401960103, RGD:401965413, RGD:401965414 |
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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G |
Leprot |
leptin receptor overlapping transcript |
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ISO |
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity |
ClinVar |
PMID:28492532 |
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NCBI chr 4:101,504,922...101,516,561
Ensembl chr 4:101,504,915...101,516,561
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G |
Lipc |
lipase, hepatic |
|
ISO |
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) protein:altered expression:liver, plasma (rat) |
RGD |
PMID:12843191 PMID:11544558 |
RGD:2308835, RGD:2308784 |
NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508
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G |
Lipe |
lipase, hormone sensitive |
|
ISO |
mRNA:decreased expression:white fat |
RGD |
PMID:17712951 |
RGD:2313580 |
NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135
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G |
Lipg |
lipase, endothelial |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:16772345 |
RGD:1641819 |
NCBI chr18:75,072,393...75,095,380
Ensembl chr18:75,072,393...75,094,334
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G |
LOC108150746 |
Lep proximal promoter region |
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ISO |
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity |
ClinVar |
|
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NCBI chr 6:29,059,459...29,060,269
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G |
LOC108169208 |
Pomc promoter region |
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ISO |
ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity |
ClinVar |
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NCBI chr12:4,004,447...4,005,032
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G |
Lpl |
lipoprotein lipase |
treatment |
ISO IAGP |
mRNA:increased expression:white fat CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18344982 PMID:17712951 PMID:18952837 PMID:28514832 PMID:27160499 |
RGD:2313580, RGD:2313300, RGD:13793401, RGD:13794378 |
NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100
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G |
Mapk1 |
mitogen-activated protein kinase 1 |
|
ISO |
protein:increased phosphorylation:endometrium (human) |
RGD |
PMID:20074784 |
RGD:13782055 |
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
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G |
Mapk3 |
mitogen-activated protein kinase 3 |
|
ISO |
protein:increased phosphorylation:endometrium (human) |
RGD |
PMID:20074784 |
RGD:13782055 |
NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
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G |
Mapt |
microtubule-associated protein tau |
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ISO |
|
RGD |
PMID:25257559 |
RGD:13800921 |
NCBI chr11:104,120,235...104,222,916
Ensembl chr11:104,122,216...104,222,916
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G |
Mbl1 |
mannose-binding lectin (protein A) 1 |
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IEP |
protein:decreased secretion:plasma (mouse) |
RGD |
PMID:16955210 |
RGD:4889156 |
NCBI chr14:40,873,413...40,885,861
Ensembl chr14:40,873,415...40,881,558
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G |
Mbl2 |
mannose-binding lectin (protein C) 2 |
|
ISO |
DNA:missense mutations:cds:p.R52C, p.G57E (human) |
RGD |
PMID:16955210 |
RGD:4889156 |
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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G |
Mc3r |
melanocortin 3 receptor |
susceptibility |
ISO IAGP |
DNA:point mutation:I183N DNA:missense mutations:cds:p.T6K, p.V81I (human) OMIM:601665 ClinVar Annotator: match by term: Obesity |
MouseDO ClinVar RGD |
PMID:11889220 PMID:15118671 PMID:16123355 |
RGD:1625178, RGD:1331525, RGD:6484587 |
NCBI chr 2:172,090,412...172,093,034
Ensembl chr 2:172,090,412...172,093,034
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G |
Mc4r |
melanocortin 4 receptor |
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ISO IMP IAGP |
DNA:nonsense mutation:cds:p.K314X (rat) mRNA:decreased expression:hypothalamus CTD Direct Evidence: marker/mechanism OMIM:601665 ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant mRNA, protein:decreased expression:liver (rat) ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant | ClinVar Annotator: match by term: SIM1-related condition ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to melanocortin 4 receptor deficiency | ClinVar Annotator: match by term: Obesity, autosomal dominant |
CTD MouseDO ClinVar RGD |
PMID:9267995 PMID:10078568 PMID:10199800 PMID:10577903 PMID:10585465 PMID:10592235 PMID:10903341 PMID:10903343 PMID:11443223 PMID:12364414 PMID:12364415 PMID:12499395 PMID:12588803 PMID:12629567 PMID:12646665 PMID:12646666 PMID:12690102 PMID:12815165 PMID:12851297 PMID:12959994 PMID:12970296 PMID:14633862 PMID:14764812 PMID:14764818 PMID:14973783 PMID:15037865 PMID:15126516 PMID:15448103 PMID:15466016 PMID:15486053 PMID:15585384 PMID:15805150 PMID:15975705 PMID:16030156 PMID:16032553 PMID:16083993 PMID:16094248 PMID:16231025 PMID:16274851 PMID:16289450 PMID:16469222 PMID:16492696 PMID:16507637 PMID:16611215 PMID:16614075 PMID:16616374 PMID:16710097 PMID:16752916 PMID:16960181 PMID:17143585 PMID:17185898 PMID:17286227 PMID:17306938 PMID:17357083 PMID:17492953 PMID:17517246 PMID:17519222 PMID:17579204 PMID:17590021 PMID:17628007 PMID:17668051 PMID:17986382 PMID:18454148 PMID:18559663 PMID:18801902 PMID:18835933 PMID:18997677 PMID:19011902 PMID:19079260 PMID:19079261 PMID:19091795 PMID:19151714 PMID:19179454 PMID:19184404 PMID:19244934 PMID:19284607 PMID:19298524 PMID:19301229 PMID:19400288 PMID:19417090 PMID:19766264 PMID:19889825 PMID:20462274 PMID:20631012 PMID:20696697 PMID:20826565 PMID:20966905 PMID:20975296 PMID:21085626 PMID:21404042 PMID:22106157 PMID:22447289 PMID:22463805 PMID:22688572 PMID:23146882 PMID:23251400 PMID:23505181 PMID:23791567 PMID:24248383 PMID:24276017 PMID:24385306 PMID:24426828 PMID:24512492 PMID:24611737 PMID:24705671 PMID:24780838 PMID:24890885 PMID:25076858 PMID:25136332 PMID:25332687 PMID:25741868 PMID:25741869 PMID:26047380 PMID:26179253 PMID:26238496 PMID:26244670 PMID:26467025 PMID:26588347 PMID:26666384 PMID:26782456 PMID:26788538 PMID:27222505 PMID:27654141 PMID:28166811 PMID:28218067 PMID:28492532 PMID:29273807 PMID:29311635 PMID:29758564 PMID:29861388 PMID:29970488 PMID:30048591 PMID:30719650 PMID:30811542 PMID:30926952 PMID:30991789 PMID:31002796 PMID:31118516 PMID:31841602 PMID:32185475 PMID:32534219 PMID:32952152 PMID:32971154 PMID:33761344 PMID:33889637 PMID:12646665 PMID:15118671 PMID:21527895 PMID:9019399 PMID:21779089 PMID:24400148 PMID:35945320 More...
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RGD:1600756, RGD:1331525, RGD:6478803, RGD:6484144, RGD:6484210, RGD:13825242, RGD:329951016 |
NCBI chr18:66,990,776...66,993,558
Ensembl chr18:66,990,775...66,993,577
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Mchr1 |
melanin-concentrating hormone receptor 1 |
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ISO |
mRNA:increased expression:hypothalamus |
RGD |
PMID:15363890 |
RGD:1624360 |
NCBI chr15:81,119,700...81,123,165
Ensembl chr15:81,119,700...81,123,165
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Me1 |
malic enzyme 1, NADP(+)-dependent, cytosolic |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270708 |
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NCBI chr 9:86,463,416...86,577,967
Ensembl chr 9:86,463,424...86,578,006
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Mfn2 |
mitofusin 2 |
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ISO |
mRNA:decreased expression:skeletal muscle tissue (human) mRNA:decreased expression:liver (rat) |
RGD |
PMID:12598526 PMID:25336449 |
RGD:1601412, RGD:12880438 |
NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
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Mgrn1 |
mahogunin, ring finger 1 |
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IAGP |
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RGD |
PMID:16638826 |
RGD:1641947 |
NCBI chr16:4,703,964...4,756,160
Ensembl chr16:4,704,113...4,756,160
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Mif |
macrophage migration inhibitory factor (glycosylation-inhibiting factor) |
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ISO |
DNA:polymorphisms:promoter mRNA, protein:increased expression:mononuclear cell, plasma |
RGD |
PMID:16247506 PMID:15472203 |
RGD:1641950, RGD:1641953 |
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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Mir107 |
microRNA 107 |
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IEP |
RNA:decreased expression:liver: |
RGD |
PMID:21120623 |
RGD:14975298 |
NCBI chr19:34,798,087...34,798,173
Ensembl chr19:34,798,087...34,798,173
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Mir125a |
microRNA 125a |
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IEP |
RNA:decreased expression:liver |
RGD |
PMID:31988048 |
RGD:21403676 |
NCBI chr17:18,051,074...18,051,141
Ensembl chr17:18,051,074...18,051,141
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Mir130a |
microRNA 130a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242765 |
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NCBI chr 2:84,571,459...84,571,522
Ensembl chr 2:84,571,459...84,571,522
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Mir130b |
microRNA 130b |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242765 |
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NCBI chr16:16,941,925...16,942,006
Ensembl chr16:16,941,925...16,942,006
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Mir155 |
microRNA 155 |
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IMP ISO |
miRNA:decreased expression:serum |
RGD |
PMID:28970282 PMID:27856635 PMID:29479888 |
RGD:21079445, RGD:21079446, RGD:24922220 |
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mir184 |
microRNA 184 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23954404 |
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NCBI chr 9:89,684,313...89,684,381
Ensembl chr 9:89,684,313...89,684,381
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Mir21a |
microRNA 21a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23954404 |
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NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Mir223 |
microRNA 223 |
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IEP |
RNA:increased expression:pancreatic islet |
RGD |
PMID:31118273 |
RGD:25823139 |
NCBI chr X:95,286,423...95,286,532
Ensembl chr X:95,286,423...95,286,532
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Mir23a |
microRNA 23a |
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ISO |
associated with hepatocellular carcinoma;RNA:increased expression:exosome, liver: |
RGD |
PMID:31321740 |
RGD:155882550 |
NCBI chr 8:84,935,147...84,935,221
Ensembl chr 8:84,935,147...84,935,221
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Mir23b |
microRNA 23b |
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ISO |
associated with hepatocellular carcinoma;RNA:increased expression:exosome, liver: |
RGD |
PMID:31321740 |
RGD:155882550 |
NCBI chr13:63,448,298...63,448,371
Ensembl chr13:63,448,298...63,448,371
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Mir34a |
microRNA 34a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23834033 |
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NCBI chr 4:150,152,911...150,153,012
Ensembl chr 4:150,152,911...150,153,012
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Mkks |
McKusick-Kaufman syndrome |
no_association |
ISO IAGP |
OMIM:601665 |
MouseDO RGD |
PMID:15483080 PMID:10973251 |
RGD:1601414, RGD:1581208 |
NCBI chr 2:136,715,700...136,733,422
Ensembl chr 2:136,715,700...136,733,309
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Mmp19 |
matrix metallopeptidase 19 |
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IEP IAGP |
mRNA:increased expression:adipose tissue |
RGD |
PMID:12529376 PMID:15169894 |
RGD:1642023, RGD:1642022 |
NCBI chr10:128,626,779...128,636,696
Ensembl chr10:128,626,779...128,636,693
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21156398 PMID:17512313 |
RGD:1642026 |
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mmut |
methylmalonyl-Coenzyme A mutase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr17:41,245,576...41,272,880
Ensembl chr17:41,245,576...41,272,879
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Mrc1 |
mannose receptor, C type 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29035695 |
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NCBI chr 2:14,234,225...14,336,834
Ensembl chr 2:14,234,203...14,336,868
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mt-Cytb |
cytochrome b, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:12905068 PMID:25741868 |
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NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288
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mt-Nd1 |
NADH dehydrogenase 1, mitochondrial |
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ISO |
DNA:missense mutation: :p.A64V (human) |
RGD |
PMID:16060290 |
RGD:2300401 |
NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
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Mt3 |
metallothionein 3 |
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IMP |
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RGD |
PMID:21726645 |
RGD:6480475 |
NCBI chr 8:94,879,235...94,880,776
Ensembl chr 8:94,879,235...94,880,774
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Mtch2 |
mitochondrial carrier 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079261 |
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NCBI chr 2:90,677,434...90,697,154
Ensembl chr 2:90,677,499...90,697,154
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Mtor |
mechanistic target of rapamycin kinase |
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ISO |
mRNA, protein:decreased expression:hypothalamus |
RGD |
PMID:25807795 |
RGD:11570513 |
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Mttp |
microsomal triglyceride transfer protein |
susceptibility |
ISO |
DNA:polymorphisms |
RGD |
PMID:15635487 PMID:15635487 |
RGD:1625486, RGD:1625486 |
NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729
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Myc |
myelocytomatosis oncogene |
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ISO |
mRNA:decreased expression:pancreas (rat) |
RGD |
PMID:22421529 |
RGD:7240547 |
NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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Myh10 |
myosin, heavy polypeptide 10, non-muscle |
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ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
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NCBI chr11:68,581,228...68,707,451
Ensembl chr11:68,582,385...68,707,458
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Myh9 |
myosin, heavy polypeptide 9, non-muscle |
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ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
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Myod1 |
myogenic differentiation 1 |
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ISO |
mRNA:decreased expression:plantaris |
RGD |
PMID:22349736 PMID:18508911 |
RGD:9686079, RGD:2313320 |
NCBI chr 7:46,025,898...46,028,516
Ensembl chr 7:46,025,898...46,028,523
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Myog |
myogenin |
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ISO |
mRNA:decreased expression:plantaris |
RGD |
PMID:18508911 |
RGD:2313320 |
NCBI chr 1:134,217,742...134,220,286
Ensembl chr 1:134,217,727...134,220,286
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Nampt |
nicotinamide phosphoribosyltransferase |
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ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23834033 PMID:17618961 |
RGD:1642336 |
NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348
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Ncf2 |
neutrophil cytosolic factor 2 |
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ISO |
protein:increased expression:artery |
RGD |
PMID:17515452 |
RGD:2314435 |
NCBI chr 1:152,675,904...152,712,743
Ensembl chr 1:152,675,945...152,712,742
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Ncoa1 |
nuclear receptor coactivator 1 |
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IAGP |
OMIM:601665 |
MouseDO |
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NCBI chr12:4,297,362...4,569,452
Ensembl chr12:4,297,362...4,527,182
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Ncoa3 |
nuclear receptor coactivator 3 |
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ISO |
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RGD |
PMID:14557830 |
RGD:1642050 |
NCBI chr 2:165,834,557...165,915,162
Ensembl chr 2:165,834,545...165,915,162
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Ndufb6 |
NADH:ubiquinone oxidoreductase subunit B6 |
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ISO |
mRNA:decreased expression:epididymal fat pad |
RGD |
PMID:20559011 |
RGD:13822707 |
NCBI chr 4:40,270,591...40,279,421
Ensembl chr 4:40,270,591...40,279,421
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Negr1 |
neuronal growth regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079261 |
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NCBI chr 3:156,266,082...157,022,101
Ensembl chr 3:156,267,431...157,022,082
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Neil1 |
nei endonuclease VIII-like 1 (E. coli) |
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ISO IAGP |
CTD Direct Evidence: marker/mechanism OMIM:601665 |
CTD MouseDO |
PMID:16446448 PMID:21285402 |
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NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
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Neurod1 |
neurogenic differentiation 1 |
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ISO |
mRNA:increased expression:pancreas |
RGD |
PMID:15979049 |
RGD:1625044 |
NCBI chr 2:79,282,981...79,286,980
Ensembl chr 2:79,282,865...79,287,095
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Nfe2l2 |
nuclear factor, erythroid derived 2, like 2 |
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IEP ISO |
protein:decreased expression:liver macrophage: protein:decreased expression:hepatocyte: |
RGD |
PMID:32102936 PMID:32102936 |
RGD:21201281, RGD:21201281 |
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Nhlh2 |
nescient helix loop helix 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20808804 |
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NCBI chr 3:101,917,425...101,922,808
Ensembl chr 3:101,917,392...101,922,808
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Nmb |
neuromedin B |
susceptibility |
ISO |
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RGD |
PMID:11194934 PMID:15585758 |
RGD:1642062, RGD:1642059 |
NCBI chr 7:80,551,975...80,554,810
Ensembl chr 7:80,551,975...80,554,824
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Nmu |
neuromedin U |
susceptibility |
IAGP ISO |
DNA:polymorphisms:cds:p.R165W,p.A19E |
RGD |
PMID:15448684 PMID:16984985 PMID:17706946 |
RGD:1642095, RGD:1642094, RGD:1642093 |
NCBI chr 5:76,481,342...76,511,624
Ensembl chr 5:76,481,342...76,511,635
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Nnt |
nicotinamide nucleotide transhydrogenase |
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ISO |
protein:decreased expression:gastrocnemius, soleus |
RGD |
PMID:25761734 |
RGD:13513980 |
NCBI chr13:119,472,063...119,545,793
Ensembl chr13:119,471,984...119,545,533 Ensembl chr13:119,471,984...119,545,533
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Nos1 |
nitric oxide synthase 1, neuronal |
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ISO |
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RGD |
PMID:16316351 |
RGD:1642132 |
NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905
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Nos2 |
nitric oxide synthase 2, inducible |
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ISO IEP |
protein:increased expression:sputum protein:increased expression:liver, gastrocnemius muscle, adipose tissue (mouse) |
RGD |
PMID:18098375 PMID:21896669 |
RGD:4891935, RGD:5509059 |
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nos3 |
nitric oxide synthase 3, endothelial cell |
treatment |
ISO |
protein:decreased expression:artery |
RGD |
PMID:17623751 PMID:29180887 |
RGD:2292133, RGD:13504728 |
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Nox4 |
NADPH oxidase 4 |
treatment |
ISO |
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RGD |
PMID:30298849 |
RGD:401960083 |
NCBI chr 7:86,893,638...87,047,918
Ensembl chr 7:86,895,304...87,047,918
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Npc1 |
NPC intracellular cholesterol transporter 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19151714 |
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NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457
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Nppa |
natriuretic peptide precursor type A |
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ISO |
associated with Heart Failure; |
RGD |
PMID:23566312 |
RGD:7247714 |
NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536
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G |
Nppb |
natriuretic peptide type B |
treatment |
ISO |
associated with Diabetes Mellitus, Type 2 mRNA:decreased expression:heart associated with hypoxia; protein:increased expression:blood serum (rat) |
RGD |
PMID:21959345 PMID:24009719 PMID:33310031 |
RGD:5685647, RGD:7327171, RGD:329955450 |
NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
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Npy |
neuropeptide Y |
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ISO |
mRNA, protein:increased expression:hypothalamus |
RGD |
PMID:17447163 |
RGD:10448938 |
NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487
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G |
Npy1r |
neuropeptide Y receptor Y1 |
susceptibility |
IAGP ISO |
associated with Hyperinsulinemia mRNA:increased expression:hypothalamus CTD Direct Evidence: marker/mechanism OMIM:601665 |
CTD MouseDO RGD |
PMID:20975297 PMID:9861026 PMID:17447163 |
RGD:1642306, RGD:10448938 |
NCBI chr 8:67,149,595...67,159,452
Ensembl chr 8:67,149,844...67,159,444
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Npy2r |
neuropeptide Y receptor Y2 |
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ISO |
mRNA:increased expression:hypothalamus |
RGD |
PMID:17019604 PMID:17447163 |
RGD:1642379, RGD:10448938 |
NCBI chr 3:82,445,688...82,455,404
Ensembl chr 3:82,445,690...82,455,391
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Npy5r |
neuropeptide Y receptor Y5 |
susceptibility |
ISO |
DNA:polymorphisms mRNA:increased expression:hypothalamus CTD Direct Evidence: marker/mechanism DNA:SNP:utr (Y5R1c52) (human) |
CTD RGD |
PMID:10849579 PMID:10849579 PMID:15118671 PMID:17447163 PMID:23900445 |
RGD:1625493, RGD:1331525, RGD:10448938, RGD:405650675 |
NCBI chr 8:67,132,617...67,140,746
Ensembl chr 8:67,132,617...67,140,780
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Nqo1 |
NAD(P)H dehydrogenase, quinone 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17405841 |
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NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
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Nr0b2 |
nuclear receptor subfamily 0, group B, member 2 |
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ISO |
ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: NR0B2-related condition | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510 PMID:11136233 More...
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RGD:1600912 |
NCBI chr 4:133,280,687...133,283,997
Ensembl chr 4:133,280,687...133,283,847
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G |
Nr1h2 |
nuclear receptor subfamily 1, group H, member 2 |
disease_progression |
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:17108812 PMID:20939869 PMID:25612518 |
RGD:1626248, RGD:13506790, RGD:15045599 |
NCBI chr 7:44,199,040...44,204,928
Ensembl chr 7:44,199,040...44,203,375
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G |
Nr1h3 |
nuclear receptor subfamily 1, group H, member 3 |
disease_progression |
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:17108812 PMID:25612518 |
RGD:1626248, RGD:15045599 |
NCBI chr 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179
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|
G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
disease_progression |
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:25612518 |
RGD:15045599 |
NCBI chr10:89,290,096...89,369,484
Ensembl chr10:89,290,096...89,369,447
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|
G |
Nr1i2 |
nuclear receptor subfamily 1, group I, member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20869355 |
|
NCBI chr16:38,068,711...38,115,211
Ensembl chr16:38,068,685...38,115,186
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|
G |
Nr1i3 |
nuclear receptor subfamily 1, group I, member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20869355 |
|
NCBI chr 1:171,041,503...171,046,414
Ensembl chr 1:171,041,539...171,048,270
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|
G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
no_association |
ISO |
associated with Depressive Disorder, Major;DNA:SNP:intron:IVS2+646C>G (human) |
RGD GAD |
PMID:20723946 PMID:16725041 PMID:15118671 PMID:18246526 |
RGD:4892206, RGD:1601498, RGD:1331525, RGD:7174717 |
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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|
G |
Nr3c2 |
nuclear receptor subfamily 3, group C, member 2 |
treatment |
ISO |
|
RGD |
PMID:30298849 |
RGD:401960083 |
NCBI chr 8:77,626,422...77,971,641
Ensembl chr 8:77,626,070...77,971,641
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|
G |
Nrf1 |
nuclear respiratory factor 1 |
treatment |
ISO |
mRNA:decreased expression:left ventricle myocardium (rat) |
RGD |
PMID:33310031 |
RGD:329955450 |
NCBI chr 6:30,047,984...30,153,462
Ensembl chr 6:30,047,987...30,153,457
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|
G |
Nrxn1 |
neurexin I |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
|
NCBI chr17:90,341,072...91,400,587
Ensembl chr17:90,341,059...91,400,499
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|
G |
Ntrk2 |
neurotrophic tyrosine kinase, receptor, type 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Obesity |
CTD ClinVar |
PMID:15494731 |
|
NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784
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|
G |
Nucb2 |
nucleobindin 2 |
|
ISO |
protein:increased expression:adipose tissue: |
RGD |
PMID:22641054 |
RGD:9831187 |
NCBI chr 7:116,103,579...116,139,823
Ensembl chr 7:116,103,604...116,139,819
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|
G |
Nudc |
nudC nuclear distribution protein |
|
ISO |
ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: NR0B2-related condition | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset |
ClinVar |
PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510 |
|
NCBI chr 4:133,259,853...133,273,338
Ensembl chr 4:133,259,853...133,273,307
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|
G |
Ogg1 |
8-oxoguanine DNA-glycosylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29709520 |
|
NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029
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|
G |
Oprm1 |
opioid receptor, mu 1 |
treatment |
ISO |
DNA, mRNA:hypermethylation, increased expression:promoter, hypothalamus DNA:hypermethylation:promoter, peripheral blood mononuclear cell |
RGD |
PMID:31258545 PMID:31258545 PMID:16876155 |
RGD:401827956, RGD:401827956, RGD:401842391 |
NCBI chr10:6,708,593...6,988,209
Ensembl chr10:6,708,506...6,988,198
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G |
Otc |
ornithine transcarbamylase |
|
ISO |
protein:increased activity:liver (rat) |
RGD |
PMID:1330956 |
RGD:4144087 |
NCBI chr X:10,118,584...10,187,275
Ensembl chr X:10,118,544...10,187,263
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|
G |
Oxct1 |
3-oxoacid CoA transferase 1 |
|
ISO |
mRNA:decreased expression:thalamus (rat) |
RGD |
PMID:19219059 |
RGD:2326191 |
NCBI chr15:4,055,910...4,184,826
Ensembl chr15:4,055,865...4,184,826
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|
G |
Pacs1 |
phosphofurin acidic cluster sorting protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23563609 |
|
NCBI chr19:5,183,714...5,323,138
Ensembl chr19:5,183,186...5,323,147
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|
G |
Parp1 |
poly (ADP-ribose) polymerase family, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20561897 |
|
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
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|
G |
Pax8 |
paired box 8 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:24,310,563...24,365,611
Ensembl chr 2:24,310,572...24,365,611
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G |
Pck1 |
phosphoenolpyruvate carboxykinase 1, cytosolic |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 2:172,994,866...173,001,067
Ensembl chr 2:172,994,841...173,001,066
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G |
Pcsk1 |
proprotein convertase subtilisin/kexin type 1 |
|
ISO IAGP |
DNA:missense mutation:cds: p.G483R (human) CTD Direct Evidence: marker/mechanism OMIM:601665 ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity |
CTD MouseDO ClinVar RGD |
PMID:18604207 PMID:25741868 PMID:28492532 PMID:9207799 PMID:15189116 |
RGD:1601274, RGD:1357925 |
NCBI chr13:75,237,407...75,282,980
Ensembl chr13:75,237,945...75,282,980
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|
G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
|
IEP ISO |
protein:increased expression:brainstem |
RGD |
PMID:11680901 PMID:15012590 |
RGD:1642351, RGD:1642350 |
NCBI chr X:7,786,061...7,790,649
Ensembl chr X:7,786,061...7,790,649
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|
G |
Pde3a |
phosphodiesterase 3A, cGMP inhibited |
|
ISO |
mRNA:decreased expression:heart |
RGD |
PMID:9648839 |
RGD:2300415 |
NCBI chr 6:141,194,995...141,452,588
Ensembl chr 6:141,194,995...141,453,174
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|
G |
Pde9a |
phosphodiesterase 9A |
treatment |
IMP |
|
RGD |
PMID:34618683 |
RGD:242170038 |
NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284
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|
G |
Pdp1 |
pyruvate dehydrogenase phosphatase catalytic subunit 1 |
|
ISO |
|
RGD |
PMID:15897476 |
RGD:1642637 |
NCBI chr 4:11,958,183...11,966,450
Ensembl chr 4:11,958,184...11,966,452
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|
G |
Pdx1 |
pancreatic and duodenal homeobox 1 |
|
ISO |
mRNA:increased expression:exocrine pancreas (human) |
RGD |
PMID:15979049 |
RGD:1625044 |
NCBI chr 5:147,206,907...147,212,658
Ensembl chr 5:147,206,769...147,212,658
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|
G |
Pex11a |
peroxisomal biogenesis factor 11 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30585412 |
|
NCBI chr 7:79,385,705...79,392,879
Ensembl chr 7:79,385,705...79,392,879
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G |
Pfkfb3 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 2:11,476,241...11,558,882
Ensembl chr 2:11,476,244...11,558,888
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G |
Pgf |
placental growth factor |
|
ISO IEP |
associated with Pre-eclampsia;protein:increased expression:serum associated with pancreatic cancer;protein:increased expression:plasma (human) |
RGD |
PMID:16769024 PMID:16020476 PMID:26861455 |
RGD:1642384, RGD:1642385, RGD:14349030 |
NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
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G |
Pgr |
progesterone receptor |
|
ISO |
|
RGD |
PMID:14557830 |
RGD:1642050 |
NCBI chr 9:8,890,017...8,968,612
Ensembl chr 9:8,899,834...8,968,612
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
|
IMP |
|
RGD |
PMID:21949398 |
RGD:6482700 |
NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
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|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO IDA |
protein:decreased expression:soleus protein:decreased tyrosine phosphorylation:skeletal muscle, liver |
RGD |
PMID:16123202 PMID:9399964 |
RGD:1625220, RGD:1625218 |
NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
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|
G |
Pklr |
pyruvate kinase liver and red blood cell |
|
IEP |
mRNA, protein:decreased expression:liver |
RGD |
PMID:12958186 |
RGD:1625583 |
NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091
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|
G |
Plat |
plasminogen activator, tissue |
|
ISO |
|
RGD |
PMID:12818410 |
RGD:2311677 |
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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|
G |
Plaur |
plasminogen activator, urokinase receptor |
|
ISO |
|
RGD |
PMID:21372607 |
RGD:6484121 |
NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393
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|
G |
Plin1 |
perilipin 1 |
susceptibility |
ISO IMP |
DNA:snp:intron:g.11482G>A (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15001633 PMID:15985482 PMID:11371650 |
RGD:1581041, RGD:737723 |
NCBI chr 7:79,370,912...79,382,652
Ensembl chr 7:79,369,966...79,382,651
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G |
Plscr3 |
phospholipid scramblase 3 |
|
IAGP |
OMIM:601665 |
MouseDO |
|
|
NCBI chr11:69,734,937...69,742,884
Ensembl chr11:69,737,202...69,742,884
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|
G |
Pmch |
pro-melanin-concentrating hormone |
|
IDA ISO |
associated with Hyperphagia associated with Hyperphagia;protein:increased expression:hypothalamus CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12355323 PMID:12453827 PMID:15363890 |
RGD:1642486, RGD:1624360 |
NCBI chr10:87,926,934...87,928,236
Ensembl chr10:87,926,934...87,928,237
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|
G |
Pnlip |
pancreatic lipase |
susceptibility |
ISO |
|
RGD |
PMID:15883013 |
RGD:1358859 |
NCBI chr19:58,658,797...58,670,231
Ensembl chr19:58,640,930...58,670,220
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|
G |
Pnpla3 |
patatin-like phospholipase domain containing 3 |
|
ISO |
|
RGD |
PMID:11431482 |
RGD:14985224 |
NCBI chr15:84,052,017...84,073,720
Ensembl chr15:84,052,038...84,071,437
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G |
Pogz |
pogo transposable element with ZNF domain |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr 3:94,730,289...94,790,888
Ensembl chr 3:94,744,878...94,789,637
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|
G |
Pomc |
pro-opiomelanocortin-alpha |
|
ISO IAGP |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism OMIM:601665 ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, early-onset, susceptibility to ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant DNA:deletions:exons |
CTD MouseDO ClinVar OMIM RGD |
PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 PMID:12165561 PMID:14557433 PMID:16289378 PMID:16459314 PMID:18091355 PMID:18697863 PMID:19153526 PMID:19221669 PMID:20349035 PMID:23293326 PMID:23649472 PMID:25741868 PMID:27906547 PMID:28492532 PMID:29970488 PMID:35574020 PMID:15189116 PMID:35343586 More...
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RGD:1357925, RGD:406192936 |
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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G |
Pon2 |
paraoxonase 2 |
|
ISO |
protein:increased expression:white adipose tissue |
RGD |
PMID:21365757 |
RGD:8661255 |
NCBI chr 6:5,264,620...5,298,408
Ensembl chr 6:5,264,147...5,298,455
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:left ventricle myocardium (rat) |
CTD RGD |
PMID:11089532 PMID:30738174 PMID:33310031 |
RGD:329955450 |
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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G |
Ppard |
peroxisome proliferator activator receptor delta |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16168052 PMID:20176998 |
|
NCBI chr17:28,451,715...28,520,446
Ensembl chr17:28,451,674...28,520,448
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G |
Pparg |
peroxisome proliferator activated receptor gamma |
susceptibility treatment |
ISO IEP |
DNA:point mutation:exon:P115Q mRNA:decreased expression:retroperitoneal fat pad DNA:polymorphism mRNA:increased expression:adipose tissue CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity |
OMIM CTD ClinVar RGD |
PMID:9467001 PMID:9792554 PMID:10381354 PMID:10523018 PMID:10622252 PMID:10690291 PMID:10851250 PMID:11089532 PMID:14569127 PMID:14616762 PMID:14671186 PMID:15254591 PMID:22461176 PMID:25157153 PMID:25741868 PMID:28242765 PMID:28492532 PMID:9753710 PMID:18427128 PMID:18683148 PMID:18457007 PMID:15118671 PMID:30298849 More...
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RGD:1601443, RGD:2301859, RGD:2301847, RGD:2301884, RGD:1331525, RGD:401960083 |
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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G |
Ppargc1a |
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha |
treatment |
ISO IDA |
mRNA:increased expression:retroperitoneal fat pad (rat) mRNA:decreased expression:left ventricle myocardium (rat) |
RGD |
PMID:23256146 PMID:23180161 PMID:22401878 PMID:33310031 |
RGD:7241848, RGD:7242011, RGD:7242183, RGD:329955450 |
NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
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G |
Ppargc1b |
peroxisome proliferative activated receptor, gamma, coactivator 1 beta |
resistance |
ISO |
DNA:polymorphism: :p.A203P CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Obesity, variation in |
CTD ClinVar RGD |
PMID:15863669 PMID:30738174 PMID:15863669 |
RGD:1642501 |
NCBI chr18:61,424,516...61,533,846
Ensembl chr18:61,431,207...61,533,502
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G |
Ppia |
peptidylprolyl isomerase A |
|
ISO |
mRNA:increased expression:blood (human) |
RGD |
PMID:32496587 |
RGD:150383342 |
NCBI chr11:6,365,867...6,369,817
Ensembl chr11:6,365,443...6,369,817
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G |
Ppm1l |
protein phosphatase 1 (formerly 2C)-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18344982 |
|
NCBI chr 3:69,224,251...69,468,131
Ensembl chr 3:69,224,194...69,468,135
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G |
Prg2 |
proteoglycan 2, bone marrow |
|
ISO |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:28125591 |
RGD:40902990 |
NCBI chr 2:84,810,805...84,813,977
Ensembl chr 2:84,810,805...84,813,976
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G |
Prkar1a |
protein kinase, cAMP dependent regulatory, type I, alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29367455 |
|
NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482
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G |
Prkar2b |
protein kinase, cAMP dependent regulatory, type II beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20975297 |
|
NCBI chr12:32,008,468...32,111,639
Ensembl chr12:32,008,475...32,111,295
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G |
Prkcb |
protein kinase C, beta |
|
ISO |
mRNA, protein:increased expression:mononuclear cell |
RGD |
PMID:17180352 |
RGD:1625512 |
NCBI chr 7:121,888,327...122,233,625
Ensembl chr 7:121,887,974...122,233,625
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G |
Prkcd |
protein kinase C, delta |
|
ISO |
protein:decreased expression:heart ventricle |
RGD |
PMID:11478406 |
RGD:1642533 |
NCBI chr14:30,317,310...30,348,637
Ensembl chr14:30,317,311...30,348,167
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G |
Prkch |
protein kinase C, eta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23563609 |
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NCBI chr12:73,631,570...73,824,959
Ensembl chr12:73,631,570...73,824,959
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G |
Prkci |
protein kinase C, iota |
|
IAGP |
OMIM:601665 |
MouseDO |
|
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NCBI chr 3:31,049,893...31,106,889
Ensembl chr 3:31,049,896...31,107,108
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G |
Prkg1 |
protein kinase, cGMP-dependent, type I |
|
ISO |
protein:increased expression:kidney, glomerulus |
RGD |
PMID:23454089 |
RGD:7777114 |
NCBI chr19:30,541,887...31,742,675
Ensembl chr19:30,541,889...31,742,433
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G |
Prl |
prolactin |
|
ISO |
|
RGD |
PMID:8388614 |
RGD:1642559 |
NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188
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G |
Prlh |
prolactin releasing hormone |
|
ISO IAGP |
OMIM:601665 |
MouseDO RGD |
PMID:15854142 |
RGD:1641829 |
NCBI chr 1:90,879,545...90,881,848
Ensembl chr 1:90,880,830...90,881,749
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G |
Prlhr |
prolactin releasing hormone receptor |
|
ISO |
|
RGD |
PMID:15854142 |
RGD:1641829 |
NCBI chr19:60,454,079...60,457,907
Ensembl chr19:60,455,170...60,456,742
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G |
Prmt7 |
protein arginine N-methyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 |
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NCBI chr 8:106,937,686...106,978,326
Ensembl chr 8:106,937,568...106,979,426
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G |
Prox1 |
prospero homeobox 1 |
|
IAGP |
OMIM:601665 |
MouseDO |
|
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NCBI chr 1:189,850,232...189,903,024
Ensembl chr 1:189,850,232...189,902,911
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
IEP ISO |
protein:increased expression:liver CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21156398 PMID:21978752 |
RGD:5508307 |
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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G |
Ptpn1 |
protein tyrosine phosphatase, non-receptor type 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10744717 PMID:20075852 |
|
NCBI chr 2:167,772,670...167,821,305
Ensembl chr 2:167,773,977...167,821,305
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G |
Ptprf |
protein tyrosine phosphatase receptor type F |
|
ISO |
|
RGD |
PMID:7666792 PMID:7769120 PMID:9218523 |
RGD:1642732, RGD:1642727, RGD:1642733 |
NCBI chr 4:118,065,410...118,148,602
Ensembl chr 4:118,065,410...118,148,602
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G |
Pyy |
peptide YY |
|
ISO |
ClinVar Annotator: match by term: Obesity CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:10898754 PMID:11825645 PMID:16368708 |
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NCBI chr11:101,997,502...101,998,658
Ensembl chr11:101,997,502...101,998,658
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G |
Rab21 |
RAB21, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
|
NCBI chr10:115,125,767...115,151,540
Ensembl chr10:115,122,989...115,151,499
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G |
Rai1 |
retinoic acid induced 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15459175 PMID:19116176 |
|
NCBI chr11:59,995,743...60,090,023
Ensembl chr11:59,995,839...60,090,023
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|
G |
Rapgef3 |
Rap guanine nucleotide exchange factor (GEF) 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
|
NCBI chr15:97,637,886...97,666,300
Ensembl chr15:97,642,651...97,665,853
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G |
Rarres2 |
retinoic acid receptor responder (tazarotene induced) 2 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:31284705 PMID:30873215 |
RGD:15036824, RGD:15036825 |
NCBI chr 6:48,546,630...48,549,778
Ensembl chr 6:48,546,630...48,549,723
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
mRNA:decreased expression:adipose tissue |
RGD |
PMID:23315497 |
RGD:8547988 |
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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G |
Rbp4 |
retinol binding protein 4, plasma |
disease_progression ameliorates |
ISO IEP |
mRNA, protein:decreased expression:adipose tissue, serum protein:increased expression:blood serum (human) |
RGD |
PMID:18401839 PMID:17292720 PMID:21585349 |
RGD:2302016, RGD:329845862, RGD:329853312 |
NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
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G |
Rela |
v-rel reticuloendotheliosis viral oncogene homolog A (avian) |
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ISO |
|
RGD |
PMID:18356846 |
RGD:2298856 |
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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G |
Ren1 |
renin 1 structural |
|
ISO |
mRNA:increased expression:abdomen, subcutaneous adipose tissue, mesenchymal stem cell (human) |
RGD |
PMID:22648117 |
RGD:6784503 |
NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063
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G |
Retn |
resistin |
|
ISO IMP |
mRNA, protein:increased expression:subcutaneous adipose tissue, serum DNA:SNP:promoter:-420G>C (rs1862513) (human) |
RGD |
PMID:22816026 PMID:17598818 PMID:11201732 |
RGD:7207072, RGD:7207155, RGD:7207158 |
NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110
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G |
Rhoa |
ras homolog family member A |
|
ISO |
protein:increased expression:membrane, aorta, skeletal muscle |
RGD |
PMID:16267124 |
RGD:2298881 |
NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133
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|
G |
Rmst |
rhabdomyosarcoma 2 associated transcript (non-coding RNA) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23563609 |
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NCBI chr10:91,917,608...92,001,040
Ensembl chr10:91,906,899...92,001,132
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G |
Rps6kb1 |
ribosomal protein S6 kinase, polypeptide 1 |
|
ISO |
protein:increased phosphorylation:skeletal muscle |
RGD |
PMID:15604215 |
RGD:1642978 |
NCBI chr11:86,389,695...86,435,711
Ensembl chr11:86,389,697...86,435,631
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G |
Rsc1a1 |
regulatory solute carrier protein, family 1, member 1 |
|
IAGP |
OMIM:601665 |
MouseDO |
|
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NCBI chr 4:141,410,874...141,413,027
Ensembl chr 4:141,411,162...141,412,910
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G |
Rsrc2 |
arginine/serine-rich coiled-coil 2 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
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NCBI chr 5:123,866,489...123,887,522
Ensembl chr 5:123,866,489...123,887,477
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G |
Rxra |
retinoid X receptor alpha |
susceptibility |
IAGP |
|
RGD |
PMID:15936932 |
RGD:1643104 |
NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969
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G |
Ryr1 |
ryanodine receptor 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604
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G |
Sat1 |
spermidine/spermine N1-acetyl transferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr X:153,996,128...153,999,345
Ensembl chr X:153,996,128...153,999,445
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G |
Scaper |
S phase cyclin A-associated protein in the ER |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:30723319 |
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NCBI chr 9:55,457,163...55,845,505
Ensembl chr 9:55,457,163...55,845,403
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G |
Scd1 |
stearoyl-Coenzyme A desaturase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr19:44,382,889...44,396,148
Ensembl chr19:44,382,894...44,396,318
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G |
Sdc1 |
syndecan 1 |
|
ISO TAS |
mRNA:increased expression:liver |
RGD |
PMID:11522680 PMID:15189116 |
RGD:1643129, RGD:1357925 |
NCBI chr12:8,821,396...8,843,716
Ensembl chr12:8,821,323...8,843,715
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G |
Sdc3 |
syndecan 3 |
|
ISO |
ClinVar Annotator: match by term: Obesity, association with CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17018662 |
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NCBI chr 4:130,519,855...130,553,629
Ensembl chr 4:130,519,848...130,553,630
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G |
Selp |
selectin, platelet |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:altered localization:platelet |
RGD |
PMID:19228864 |
RGD:2312291 |
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
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G |
Serpina12 |
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 |
treatment |
ISO |
|
RGD |
PMID:16030142 |
RGD:1547845 |
NCBI chr12:103,995,028...104,010,702
Ensembl chr12:103,995,028...104,010,702
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G |
Serpine1 |
serine (or cysteine) peptidase inhibitor, clade E, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23819014 |
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NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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G |
Serpinf1 |
serine (or cysteine) peptidase inhibitor, clade F, member 1 |
|
ISO |
protein:increased expression:serum (rat) |
RGD |
PMID:17491674 PMID:24424059 |
RGD:2312347, RGD:8633067 |
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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G |
Sftpa1 |
surfactant associated protein A1 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:15136884 |
RGD:4143472 |
NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
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G |
Sftpb |
surfactant associated protein B |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:15136884 |
RGD:4143472 |
NCBI chr 6:72,281,594...72,291,354
Ensembl chr 6:72,281,594...72,291,354
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G |
Sh2b1 |
SH2B adaptor protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079261 |
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NCBI chr 7:126,066,165...126,075,882
Ensembl chr 7:126,066,166...126,074,596
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G |
Sim1 |
single-minded family bHLH transcription factor 1 |
|
ISO IAGP |
DNA:translocation OMIM:601665 ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition | ClinVar Annotator: match by term: UCP3-related condition |
MouseDO ClinVar RGD |
PMID:2152513 PMID:16924270 PMID:19401419 PMID:21512513 PMID:23778136 PMID:23778139 PMID:24097297 PMID:25234154 PMID:25741868 PMID:26795956 PMID:28492532 PMID:29216354 PMID:30991789 PMID:33434169 PMID:10587584 More...
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RGD:1624165 |
NCBI chr10:50,770,794...50,865,252
Ensembl chr10:50,770,850...50,865,248
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G |
Sirt1 |
sirtuin 1 |
treatment |
ISO |
protein:decreased expression:ovary CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:24184811 PMID:24773342 PMID:24135502 |
RGD:9585762, RGD:9586064 |
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
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G |
Sirt3 |
sirtuin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23956348 PMID:21901160 |
RGD:9586047 |
NCBI chr 7:140,443,576...140,462,222
Ensembl chr 7:140,443,579...140,462,222
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G |
Sirt6 |
sirtuin 6 |
|
ISO |
protein:decreased expression:ovary |
RGD |
PMID:24135502 |
RGD:9586064 |
NCBI chr10:81,457,621...81,463,631
Ensembl chr10:81,457,619...81,463,631
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G |
Slc10a1 |
solute carrier family 10 (sodium/bile acid cotransporter family), member 1 |
disease_progression |
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:25612518 |
RGD:15045599 |
NCBI chr12:80,999,959...81,015,479
Ensembl chr12:80,999,957...81,015,479
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G |
Slc16a7 |
solute carrier family 16 (monocarboxylic acid transporters), member 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr10:125,055,139...125,225,455
Ensembl chr10:125,055,139...125,225,334
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G |
Slc22a1 |
solute carrier family 22 (organic cation transporter), member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20956498 |
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NCBI chr17:12,867,761...12,894,725
Ensembl chr17:12,867,756...12,894,716
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G |
Slc22a2 |
solute carrier family 22 (organic cation transporter), member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27401566 |
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NCBI chr17:12,803,076...12,847,376
Ensembl chr17:12,803,019...12,847,375
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G |
Slc22a3 |
solute carrier family 22 (organic cation transporter), member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27401566 |
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NCBI chr17:12,638,859...12,726,591
Ensembl chr17:12,637,847...12,726,591
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G |
Slc27a1 |
solute carrier family 27 (fatty acid transporter), member 1 |
susceptibility |
IAGP ISO |
DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle |
RGD |
PMID:15281014 PMID:16611988 |
RGD:1642794, RGD:1642790 |
NCBI chr 8:72,021,372...72,039,951
Ensembl chr 8:72,021,526...72,039,946
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G |
Slc27a4 |
solute carrier family 27 (fatty acid transporter), member 4 |
|
ISO |
mRNA:increased expression:subcutaneous adipose tissue |
RGD |
PMID:15168018 |
RGD:1625638 |
NCBI chr 2:29,692,646...29,707,534
Ensembl chr 2:29,692,646...29,707,534
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G |
Slc2a1 |
solute carrier family 2 (facilitated glucose transporter), member 1 |
treatment |
ISO |
associated with Polycystic Ovary Syndrome |
RGD |
PMID:24842895 |
RGD:12879503 |
NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180
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G |
Slc32a1 |
solute carrier family 32 (GABA vesicular transporter), member 1 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
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NCBI chr 2:158,449,158...158,457,667
Ensembl chr 2:158,452,687...158,457,668
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G |
Slc6a1 |
solute carrier family 6 (neurotransmitter transporter, GABA), member 1 |
|
IMP |
|
RGD |
PMID:11191352 |
RGD:1643191 |
NCBI chr 6:114,259,735...114,294,491
Ensembl chr 6:114,259,596...114,294,493
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G |
Slc6a14 |
solute carrier family 6 (neurotransmitter transporter), member 14 |
susceptibility |
ISO |
DNA:SNPs |
RGD |
PMID:15331564 |
RGD:1625271 |
NCBI chr X:21,581,139...21,608,597
Ensembl chr X:21,581,135...21,608,594
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G |
Slc6a3 |
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 |
susceptibility no_association |
ISO |
DNA:polymorphism |
RGD |
PMID:12490667 PMID:16674552 |
RGD:1625655, RGD:1625653 |
NCBI chr13:73,684,270...73,726,791
Ensembl chr13:73,684,866...73,726,791
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G |
Slc9a3 |
solute carrier family 9 (sodium/hydrogen exchanger), member 3 |
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ISO |
protein:decreased expression:kidney cortex |
RGD |
PMID:16757903 |
RGD:1625672 |
NCBI chr13:74,234,374...74,317,561
Ensembl chr13:74,269,576...74,317,561
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
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G |
Snap25 |
synaptosomal-associated protein 25 |
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IAGP |
OMIM:601665 |
MouseDO |
|
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NCBI chr 2:136,555,359...136,624,348
Ensembl chr 2:136,555,373...136,624,348
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G |
Socs1 |
suppressor of cytokine signaling 1 |
|
ISO |
mRNA, protein:increased expression:white fat |
RGD |
PMID:11027633 |
RGD:2298920 |
NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400
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G |
Socs3 |
suppressor of cytokine signaling 3 |
|
ISO |
mRNA, protein:increased expression:white fat mRNA:decreased expression:subcutaneous adipose tissue mRNA:altered expression:skeletal muscle, subcutaneous adipose tissue DNA:SNP:utr (rs4969170) (human) |
RGD |
PMID:11027633 PMID:16920065 PMID:15331532 PMID:23900445 |
RGD:2298920, RGD:1625676, RGD:2313790, RGD:405650675 |
NCBI chr11:117,856,905...117,860,192
Ensembl chr11:117,856,905...117,860,873
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G |
Sod1 |
superoxide dismutase 1, soluble |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24042701 |
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NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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G |
Sod2 |
superoxide dismutase 2, mitochondrial |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16317704 PMID:23956348 PMID:30738174 |
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NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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G |
Sorbs1 |
sorbin and SH3 domain containing 1 |
|
ISO |
DNA:SNP: :p.T228A (human) |
RGD |
PMID:11532984 |
RGD:1642744 |
NCBI chr19:40,280,484...40,502,399
Ensembl chr19:40,283,197...40,502,223
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G |
Sparc |
secreted acidic cysteine rich glycoprotein |
|
IEP |
mRNA:increased expression:adipose tissue |
RGD |
PMID:11294850 |
RGD:2300062 |
NCBI chr11:55,284,985...55,310,906
Ensembl chr11:55,285,326...55,314,009
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G |
Sqle |
squalene epoxidase |
|
IDA |
|
RGD |
PMID:15556298 |
RGD:1581399 |
NCBI chr15:59,186,941...59,203,042
Ensembl chr15:59,186,926...59,203,041
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G |
Srd5a1 |
steroid 5 alpha-reductase 1 |
|
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:20098742 |
RGD:4891511 |
NCBI chr13:69,721,568...69,759,611
Ensembl chr13:69,721,568...69,759,561
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G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Obesity |
CTD ClinVar |
PMID:10900012 PMID:25741868 |
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NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407
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G |
Srebf2 |
sterol regulatory element binding factor 2 |
|
ISO |
protein:increased expression:fat cell, nucleus |
RGD |
PMID:9786926 |
RGD:2308843 |
NCBI chr15:82,031,455...82,089,580
Ensembl chr15:82,031,382...82,089,580
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
protein:decreased phosphorylation:hypothalamus DNA:SNP:rs4796793 (human) |
RGD |
PMID:23397595 PMID:23900445 |
RGD:10411893, RGD:405650675 |
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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G |
Stat4 |
signal transducer and activator of transcription 4 |
treatment |
ISO |
|
RGD |
PMID:20978234 |
RGD:5509594 |
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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G |
Stk11 |
serine/threonine kinase 11 |
|
ISO |
protein:decreased expression:gastrocnemius |
RGD |
PMID:16352671 |
RGD:1601389 |
NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516
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G |
Sts |
steroid sulfatase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24497646 |
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NCBI chr X:168,856,332...169,015,037
Ensembl chr X:168,909,030...169,014,924
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G |
Sucla2 |
succinate-Coenzyme A ligase, ADP-forming, beta subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582
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|
G |
Suclg2 |
succinate-Coenzyme A ligase, GDP-forming, beta subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 6:95,449,992...95,695,799
Ensembl chr 6:95,449,990...95,695,781
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G |
Szt2 |
SZT2 subunit of KICSTOR complex |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:118,219,937...118,266,483
Ensembl chr 4:118,219,940...118,266,470
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G |
Tbc1d1 |
TBC1 domain family, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16893906 PMID:18325908 PMID:18931681 |
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NCBI chr 5:64,313,648...64,508,829
Ensembl chr 5:64,313,648...64,508,829
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G |
Tbx3 |
T-box 3 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:119,808,600...119,822,789
Ensembl chr 5:119,808,734...119,822,789
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G |
Tbxa2r |
thromboxane A2 receptor |
|
IEP |
mRNA:increased expression:carotid artery |
RGD |
PMID:12409963 |
RGD:1601447 |
NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006
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G |
Tfam |
transcription factor A, mitochondrial |
treatment |
ISO |
mRNA:decreased expression:left ventricle myocardium (rat) |
RGD |
PMID:21862610 PMID:33310031 |
RGD:5683906, RGD:329955450 |
NCBI chr10:71,061,298...71,074,157
Ensembl chr10:71,061,294...71,074,110
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G |
Tfrc |
transferrin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17062801 PMID:20882379 |
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NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
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|
G |
Tgfb1 |
transforming growth factor, beta 1 |
severity |
ISO |
protein:increased expression:platelet associated with hypertension;protein:increased expression:blood protein:increased expression:adipose tissue |
RGD |
PMID:16477387 PMID:15944724 PMID:16253647 |
RGD:1601561, RGD:1601579, RGD:1601563 |
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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G |
Th |
tyrosine hydroxylase |
resistance |
ISO |
DNA:polymorphism:intron:g.1170_1173dupTCAT (human) |
RGD |
PMID:16251897 |
RGD:1601632 |
NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865
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G |
Thbd |
thrombomodulin |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:16651309 |
RGD:1601640 |
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
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G |
Thbs1 |
thrombospondin 1 |
|
ISO |
mRNA,protein:increased expression:mononuclear cell, adipose tissue: |
RGD |
PMID:24086512 |
RGD:9681453 |
NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614
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G |
Timp1 |
tissue inhibitor of metalloproteinase 1 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:17512313 |
RGD:1642026 |
NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974
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G |
Tlr2 |
toll-like receptor 2 |
|
IMP |
|
RGD |
PMID:18787058 |
RGD:2312681 |
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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G |
Tlr4 |
toll-like receptor 4 |
susceptibility |
IAGP ISO |
|
RGD |
PMID:19144836 PMID:19144836 PMID:17053832 |
RGD:2312510, RGD:2312510, RGD:1620653 |
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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G |
Tmem18 |
transmembrane protein 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079261 |
|
NCBI chr12:30,634,442...30,641,218
Ensembl chr12:30,634,425...30,641,214
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G |
Tnf |
tumor necrosis factor |
treatment |
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9502777 PMID:11328671 PMID:20141834 PMID:29035695 PMID:24146106 PMID:28843383 More...
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RGD:10450599, RGD:14975146 |
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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G |
Tnfrsf1a |
tumor necrosis factor receptor superfamily, member 1a |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:12935365 |
RGD:1624179 |
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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G |
Tnfrsf1b |
tumor necrosis factor receptor superfamily, member 1b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11782876 |
|
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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G |
Trf |
transferrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20882379 PMID:16267817 |
RGD:1601520 |
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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G |
Trpv1 |
transient receptor potential cation channel, subfamily V, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17347480 |
|
NCBI chr11:73,124,975...73,152,148
Ensembl chr11:73,125,118...73,152,068
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G |
Tsc1 |
TSC complex subunit 1 |
|
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:25807795 |
RGD:11570513 |
NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
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G |
Tub |
TUB bipartite transcription factor |
susceptibility no_association |
IAGP ISO |
DNA:splice-site mutation OMIM:601665 |
MouseDO RGD |
PMID:8612280 PMID:8772727 |
RGD:1625565, RGD:1625564 |
NCBI chr 7:108,610,087...108,633,666
Ensembl chr 7:108,549,545...108,633,667
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G |
Tyk2 |
tyrosine kinase 2 |
|
IAGP |
OMIM:601665 |
MouseDO |
|
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NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539
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G |
Ucn |
urocortin |
treatment |
IDA |
|
RGD |
PMID:17932219 |
RGD:1642774 |
NCBI chr 5:31,295,333...31,296,239
Ensembl chr 5:31,295,407...31,296,173
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G |
Ucp1 |
uncoupling protein 1 (mitochondrial, proton carrier) |
no_association |
ISO |
DNA:polymorphism: :-3826A>G (human) CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:15592485 PMID:8968850 |
RGD:1624977 |
NCBI chr 8:84,016,977...84,025,085
Ensembl chr 8:84,016,981...84,025,081
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G |
Ucp2 |
uncoupling protein 2 (mitochondrial, proton carrier) |
susceptibility |
ISO |
DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) DNA:SNPs, insertion/deletion, haplotypes:promoter, 3' utr:-2723T>A, -866G>A, *158_159ins45 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11381268 PMID:17870627 PMID:11381268 |
RGD:2313512, RGD:737761 |
NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227
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G |
Ucp3 |
uncoupling protein 3 (mitochondrial, proton carrier) |
susceptibility no_association |
ISO IMP |
DNA:SNP:exon:p.V102I (human) DNA:polymorphism:promoter:-55C>T (human) DNA:polymorphism:exon (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A | ClinVar Annotator: match by term: UCP3-related condition |
OMIM CTD ClinVar RGD |
PMID:9769326 PMID:10618503 PMID:21544083 PMID:25741868 PMID:28492532 PMID:9769326 PMID:18249216 PMID:14673524 PMID:15118671 PMID:9700198 PMID:12145158 More...
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RGD:1625189, RGD:2313506, RGD:2313518, RGD:1331525, RGD:2313526, RGD:2313519 |
NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639
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G |
Ulk4 |
unc-51-like kinase 4 (C. elegans) |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
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NCBI chr 9:120,793,520...121,115,225
Ensembl chr 9:120,784,417...121,106,263
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G |
Uqcrc2 |
ubiquinol cytochrome c reductase core protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr 7:120,234,412...120,258,746
Ensembl chr 7:120,234,399...120,258,747
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
IEP |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:19260948 |
RGD:2312763 |
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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G |
Vdr |
vitamin D (1,25-dihydroxyvitamin D3) receptor |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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G |
Vgf |
VGF nerve growth factor inducible |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12177191 |
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NCBI chr 5:137,054,156...137,062,205
Ensembl chr 5:137,055,246...137,062,205
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
associated with hepatocellular carcinoma;RNA:decreased expression:liver: |
RGD |
PMID:31321740 |
RGD:155882550 |
NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
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G |
Vldlr |
very low density lipoprotein receptor |
susceptibility |
IAGP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20975297 PMID:11557677 |
RGD:1625568 |
NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631
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G |
Vwf |
Von Willebrand factor |
|
ISO |
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma |
RGD |
PMID:16739871 PMID:16631442 |
RGD:1625710, RGD:1625711 |
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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G |
Wnt10b |
wingless-type MMTV integration site family, member 10B |
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ISO IMP |
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RGD |
PMID:16477437 PMID:17578883 |
RGD:2300029, RGD:2326237 |
NCBI chr15:98,668,593...98,676,093
Ensembl chr15:98,668,593...98,676,031
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G |
Wnt3a |
wingless-type MMTV integration site family, member 3A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242765 |
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NCBI chr11:59,138,859...59,181,579
Ensembl chr11:59,138,859...59,181,578
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G |
Xdh |
xanthine dehydrogenase |
treatment |
ISO |
|
RGD |
PMID:7616299 |
RGD:13210504 |
NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191
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G |
Zbtb7b |
zinc finger and BTB domain containing 7B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
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NCBI chr 3:89,284,953...89,300,976
Ensembl chr 3:89,284,951...89,302,083
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G |
Zc3h10 |
zinc finger CCCH type containing 10 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:31775033 |
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NCBI chr10:128,379,429...128,383,877
Ensembl chr10:128,377,832...128,383,643
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G |
Zfhx3 |
zinc finger homeobox 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
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NCBI chr 8:109,005,975...109,688,272
Ensembl chr 8:108,669,276...109,688,262
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G |
Zfp169 |
zinc finger protein 169 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
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NCBI chr13:48,634,239...48,666,969
Ensembl chr13:48,641,123...48,666,927
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G |
Zfp26 |
zinc finger protein 26 |
|
ISO |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
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NCBI chr 9:20,338,457...20,371,465
Ensembl chr 9:20,339,745...20,371,458
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G |
Zfr2 |
zinc finger RNA binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
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NCBI chr10:81,068,967...81,087,957
Ensembl chr10:81,068,989...81,087,957
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G |
Cd163 |
CD163 antigen |
exacerbates |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:31027316 |
RGD:127345132 |
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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G |
Cyp2r1 |
cytochrome P450, family 2, subfamily r, polypeptide 1 |
|
ISO |
DNA:SNP:CDS: rs12794714 (human) |
RGD |
PMID:34906413 |
RGD:401900724 |
NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207
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G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15199296 |
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NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383
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G |
Ctf1 |
cardiotrophin 1 |
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IAGP |
|
MouseDO |
|
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NCBI chr 7:127,311,872...127,317,360
Ensembl chr 7:127,311,908...127,317,364
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G |
Gucy2c |
guanylate cyclase 2c |
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IAGP |
|
MouseDO |
|
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NCBI chr 6:136,674,282...136,758,740
Ensembl chr 6:136,674,282...136,758,763
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G |
Lep |
leptin |
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IAGP |
|
MouseDO |
|
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NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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G |
Neil1 |
nei endonuclease VIII-like 1 (E. coli) |
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IAGP |
|
MouseDO |
|
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NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15309680 |
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NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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G |
Pparg |
peroxisome proliferator activated receptor gamma |
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IAGP |
|
MouseDO |
|
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NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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G |
Ppargc1a |
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha |
|
ISO |
mRNA:increased expression:gastrocnemius muscle (rat) |
RGD |
PMID:23320128 |
RGD:7241841 |
NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
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G |
Prkci |
protein kinase C, iota |
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IAGP |
|
MouseDO |
|
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NCBI chr 3:31,049,893...31,106,889
Ensembl chr 3:31,049,896...31,107,108
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G |
Sirt3 |
sirtuin 3 |
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IAGP |
|
MouseDO |
|
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NCBI chr 7:140,443,576...140,462,222
Ensembl chr 7:140,443,579...140,462,222
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G |
Slc2a9 |
solute carrier family 2 (facilitated glucose transporter), member 9 |
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IAGP |
|
MouseDO |
|
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NCBI chr 5:38,506,616...38,660,488
Ensembl chr 5:38,506,616...38,660,486
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G |
Atp2a2 |
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 |
|
ISO |
protein:increased oxidation:cardiac muscle cell |
RGD |
PMID:23997093 |
RGD:13782087 |
NCBI chr 5:122,591,576...122,640,288
Ensembl chr 5:122,591,576...122,640,288
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G |
Bax |
BCL2-associated X protein |
treatment |
ISO |
|
RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
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G |
Bcl2 |
B cell leukemia/lymphoma 2 |
treatment |
ISO |
|
RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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G |
Fadd |
Fas associated via death domain |
treatment |
ISO |
|
RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200
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G |
Fas |
Fas cell surface death receptor |
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ISO |
|
RGD |
PMID:30172001 |
RGD:13792561 |
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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G |
Lep |
leptin |
|
IAGP |
OMIM:605552 |
MouseDO |
|
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NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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G |
Lpl |
lipoprotein lipase |
treatment |
ISO |
|
RGD |
PMID:26996629 |
RGD:13794382 |
NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100
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G |
Mttp |
microsomal triglyceride transfer protein |
|
ISO |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1 |
ClinVar |
PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
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NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729
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G |
Tlr2 |
toll-like receptor 2 |
susceptibility |
IMP |
|
RGD |
PMID:19841034 |
RGD:15090861 |
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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G |
Trp53inp1 |
transformation related protein 53 inducible nuclear protein 1 |
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IAGP |
OMIM:605552 |
MouseDO |
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NCBI chr 4:11,156,441...11,174,379
Ensembl chr 4:11,156,431...11,174,379
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G |
Ahdc1 |
AT hook, DNA binding motif, containing 1 |
|
ISO |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 |
ClinVar |
PMID:25741868 PMID:29696776 PMID:33644933 |
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NCBI chr 4:132,738,797...132,805,421
Ensembl chr 4:132,738,571...132,805,421
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G |
Dyrk1b |
dual-specificity tyrosine phosphorylation regulated kinase 1b |
|
ISO |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:28492532 PMID:32041611 More...
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NCBI chr 7:27,878,880...27,896,896
Ensembl chr 7:27,878,894...27,886,719
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G |
Cela2a |
chymotrypsin-like elastase family, member 2A |
|
ISO |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 |
OMIM ClinVar |
PMID:25741868 PMID:31358993 |
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NCBI chr 4:141,542,265...141,553,316
Ensembl chr 4:141,542,273...141,553,471
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G |
Phf6 |
PHD finger protein 6 |
|
ISO IAGP |
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders CTD Direct Evidence: marker/mechanism OMIM:301900 |
OMIM ClinVar CTD MouseDO |
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15580208 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24092917 PMID:24728327 PMID:25099957 PMID:25741868 PMID:25741869 PMID:26648834 PMID:27633282 PMID:27698851 PMID:28492532 PMID:28539120 PMID:28554332 PMID:30403997 PMID:30630810 PMID:33772537 PMID:34041787 PMID:35662002 PMID:36999477 More...
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NCBI chr X:52,001,091...52,045,838
Ensembl chr X:52,001,143...52,045,820
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G |
Aff4 |
AF4/FMR2 family, member 4 |
|
ISO |
ClinVar Annotator: match by term: AFF4-related condition | ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28492532 PMID:29758562 PMID:31058441 PMID:34782754 More...
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NCBI chr11:53,240,807...53,312,657
Ensembl chr11:53,241,660...53,312,657
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G |
Trip12 |
thyroid hormone receptor interactor 12 |
|
ISO |
ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition |
OMIM ClinVar |
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 PMID:28492532 PMID:28660352 PMID:29758562 PMID:31814248 More...
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NCBI chr 1:84,698,910...84,818,285
Ensembl chr 1:84,698,910...84,818,237
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G |
Ankrd46 |
ankyrin repeat domain 46 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:36,477,814...36,496,937
Ensembl chr15:36,477,814...36,496,966
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G |
Atp6v1c1 |
ATPase, H+ transporting, lysosomal V1 subunit C1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:38,662,096...38,692,688
Ensembl chr15:38,662,177...38,692,690
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G |
Azin1 |
antizyme inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:38,487,674...38,523,506
Ensembl chr15:38,487,671...38,519,510
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G |
Baalc |
brain and acute leukemia, cytoplasmic |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:38,739,763...38,814,659
Ensembl chr15:38,740,784...38,816,307
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G |
Cox6c |
cytochrome c oxidase subunit 6C |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:35,932,122...35,938,392
Ensembl chr15:35,926,032...35,938,392
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G |
Cthrc1 |
collagen triple helix repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:38,940,327...38,950,516
Ensembl chr15:38,940,327...38,950,516
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G |
Dcaf13 |
DDB1 and CUL4 associated factor 13 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:38,976,300...39,010,251
Ensembl chr15:38,976,260...39,010,251
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G |
Dcstamp |
dendrocyte expressed seven transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:39,609,326...39,624,334
Ensembl chr15:39,609,326...39,624,334
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G |
Dpys |
dihydropyrimidinase |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:39,631,881...39,720,866
Ensembl chr15:39,631,883...39,720,866
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G |
Fbxo43 |
F-box protein 43 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:36,150,206...36,170,086
Ensembl chr15:36,150,206...36,165,030
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G |
Fzd6 |
frizzled class receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:38,869,673...38,901,587
Ensembl chr15:38,869,429...38,901,583
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G |
Grhl2 |
grainyhead like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:37,233,065...37,363,813
Ensembl chr15:37,233,280...37,363,813
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G |
Kcns2 |
K+ voltage-gated channel, subfamily S, 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr15:34,837,501...34,843,553
Ensembl chr15:34,837,501...34,843,553
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G |
Klf10 |
Kruppel-like transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:38,291,702...38,300,950
Ensembl chr15:38,291,707...38,300,950
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G |
Lrp12 |
low density lipoprotein-related protein 12 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:39,733,985...39,807,417
Ensembl chr15:39,733,985...39,807,390
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G |
Mir599 |
microRNA 599 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr15:35,660,977...35,661,064
Ensembl chr15:35,660,977...35,661,064
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G |
Mir875 |
microRNA 875 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr15:35,661,116...35,661,193
Ensembl chr15:35,661,116...35,661,193
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G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731
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G |
Ncald |
neurocalcin delta |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:37,366,419...37,792,816
Ensembl chr15:37,366,419...37,792,814
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G |
Nipal2 |
NIPA-like domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:34,572,942...34,679,739
Ensembl chr15:34,572,945...34,679,358
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G |
Odf1 |
outer dense fiber of sperm tails 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:38,219,447...38,226,979
Ensembl chr15:38,219,447...38,226,979
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G |
Osr2 |
odd-skipped related 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr15:35,296,244...35,303,451
Ensembl chr15:35,296,244...35,303,451
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G |
Pabpc1 |
poly(A) binding protein, cytoplasmic 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:36,595,902...36,609,825
Ensembl chr15:36,595,905...36,609,912
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G |
Polr2k |
polymerase (RNA) II (DNA directed) polypeptide K |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:36,174,156...36,177,158
Ensembl chr15:36,174,156...36,177,156
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G |
Pop1 |
processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:34,495,457...34,530,799
Ensembl chr15:34,495,450...34,530,794
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G |
Rgs22 |
regulator of G-protein signalling 22 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:35,960,664...36,140,718
Ensembl chr15:36,009,625...36,140,546
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G |
Rims2 |
regulating synaptic membrane exocytosis 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:39,061,681...39,547,768
Ensembl chr15:39,061,656...39,547,768
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G |
Rnf19a |
ring finger protein 19A |
|
ISO |
ClinVar Annotator: match by term: VPS13B-related condition |
ClinVar |
PMID:28492532 |
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NCBI chr15:36,240,080...36,283,293
Ensembl chr15:36,240,079...36,283,293
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G |
Rrm2b |
ribonucleotide reductase M2 B (TP53 inducible) |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:37,924,196...37,961,562
Ensembl chr15:37,924,196...37,961,562
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G |
Slc25a32 |
solute carrier family 25, member 32 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:38,954,625...38,976,213
Ensembl chr15:38,954,626...38,976,111
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G |
Snx31 |
sorting nexin 31 |
|
ISO |
ClinVar Annotator: match by term: VPS13B-related condition |
ClinVar |
PMID:28492532 |
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NCBI chr15:36,504,208...36,560,274
Ensembl chr15:36,504,208...36,555,718
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G |
Spag1 |
sperm associated antigen 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:36,175,629...36,235,767
Ensembl chr15:36,178,245...36,235,767
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G |
Stk3 |
serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr15:34,875,645...35,155,990
Ensembl chr15:34,875,642...35,179,067
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G |
Ubr5 |
ubiquitin protein ligase E3 component n-recognin 5 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:37,966,421...38,084,103
Ensembl chr15:37,967,572...38,079,098
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G |
Vps13b |
vacuolar protein sorting 13B |
|
ISO IAGP |
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM:216550 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:15918062 PMID:16199547 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17576681 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:19763152 PMID:20307669 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21850686 PMID:21865173 PMID:22382802 PMID:22406018 PMID:22527104 PMID:22700954 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334746 PMID:24334764 PMID:25060287 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25640679 PMID:25741868 PMID:26104215 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26539891 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28631888 PMID:28832562 PMID:29149870 PMID:29431110 PMID:29453417 PMID:29634382 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30290665 PMID:30602132 PMID:30792901 PMID:30843084 PMID:31444703 PMID:31580008 PMID:31736247 PMID:31943017 PMID:31965297 PMID:32170714 PMID:32384097 PMID:32483926 PMID:32505691 PMID:32581362 PMID:32860008 PMID:32919079 PMID:32959227 PMID:33023636 PMID:33025479 PMID:33217554 PMID:33994118 PMID:34006472 PMID:34353225 PMID:34425733 PMID:35052368 PMID:35690661 More...
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NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375
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G |
Ywhaz |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:36,770,505...36,803,228
Ensembl chr15:36,771,014...36,797,173
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G |
Zfp706 |
zinc finger protein 706 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:36,997,271...37,007,646
Ensembl chr15:36,997,271...37,008,017
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G |
Zfpm2 |
zinc finger protein, multitype 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988
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G |
Lep |
leptin |
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ISO |
ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency |
OMIM ClinVar |
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:20140086 PMID:25551525 PMID:25741868 PMID:28209183 PMID:28377240 PMID:28492532 PMID:37314706 More...
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NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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G |
Lepr |
leptin receptor |
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ISO |
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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G |
LOC108150746 |
Lep proximal promoter region |
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ISO |
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency |
ClinVar |
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NCBI chr 6:29,059,459...29,060,269
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G |
Irak1bp1 |
interleukin-1 receptor-associated kinase 1 binding protein 1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related disorder |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23033978 PMID:25741868 PMID:28492532 PMID:29209020 PMID:32801363 PMID:33004838 More...
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NCBI chr 9:82,711,859...82,729,741
Ensembl chr 9:82,711,593...82,729,740
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G |
Phip |
pleckstrin homology domain interacting protein |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related disorder |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23033978 PMID:25741868 PMID:27479843 PMID:27900362 PMID:28263302 PMID:28492532 PMID:29209020 PMID:32801363 PMID:33004838 PMID:34773373 More...
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NCBI chr 9:82,748,212...82,857,776
Ensembl chr 9:82,748,212...82,857,569
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G |
Lepr |
leptin receptor |
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ISO |
ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency |
OMIM ClinVar |
PMID:8666155 PMID:9144432 PMID:9537324 PMID:9860295 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:23616257 PMID:24319006 PMID:24611737 PMID:25741868 PMID:25751111 PMID:26094658 PMID:26467025 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:34097736 More...
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NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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G |
Leprot |
leptin receptor overlapping transcript |
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ISO |
ClinVar Annotator: match by term: Leptin receptor deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 4:101,504,922...101,516,561
Ensembl chr 4:101,504,915...101,516,561
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G |
Eif2s3x |
eukaryotic translation initiation factor 2, subunit 3, structural gene X-linked |
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ISO |
ClinVar Annotator: match by term: MEHMO syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 PMID:30878599 More...
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NCBI chr X:93,232,315...93,256,257
Ensembl chr X:93,232,313...93,256,468
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G |
Acss2 |
acyl-CoA synthetase short-chain family member 2 |
treatment |
ISO |
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RGD |
PMID:22384010 |
RGD:13831306 |
NCBI chr 2:155,359,963...155,404,663
Ensembl chr 2:155,359,868...155,427,644
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G |
Adcy3 |
adenylate cyclase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29311637 |
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NCBI chr12:4,183,397...4,263,525
Ensembl chr12:4,183,103...4,263,525
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G |
Ager |
advanced glycosylation end product-specific receptor |
treatment |
ISO |
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RGD |
PMID:22828946 |
RGD:7243249 |
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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G |
Apln |
apelin |
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ISO |
protein:increased expression:plasma associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:15970339 PMID:19756893 |
RGD:1600932, RGD:2313938 |
NCBI chr X:47,114,023...47,123,730
Ensembl chr X:47,114,023...47,123,730
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G |
Aqp7 |
aquaporin 7 |
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ISO |
mRNA:decreased expression:subcutaneous adipose tissue |
RGD |
PMID:17566090 |
RGD:1626289 |
NCBI chr 4:41,033,074...41,048,237
Ensembl chr 4:41,033,074...41,048,139
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G |
Bbs4 |
Bardet-Biedl syndrome 4 |
susceptibility |
ISO |
DNA:SNPs |
RGD |
PMID:17003356 |
RGD:1601311 |
NCBI chr 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791
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G |
Bdnf |
brain derived neurotrophic factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21708048 |
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NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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G |
Cck |
cholecystokinin |
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ISO |
|
RGD |
PMID:17443025 |
RGD:1625798 |
NCBI chr 9:121,318,890...121,324,728
Ensembl chr 9:121,318,890...121,324,760
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G |
Cpe |
carboxypeptidase E |
|
ISO |
mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects |
RGD |
PMID:12530526 |
RGD:1626182 |
NCBI chr 8:65,045,576...65,146,143
Ensembl chr 8:65,045,576...65,146,088
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G |
Ctnnbl1 |
catenin, beta like 1 |
susceptibility no_association |
ISO | |