RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: obesity
Accession: DOID:9970
browse the term
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: exact_synonym: obesity disorder
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; severe obesity and type II diabetes
broad_synonym: UCP3-related condition
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
xref: EFO:0001073 ; ICD10CM:E66.9 ; ICD9CM:278.00 ; MESH:D000079262 ; MESH:D009765 ; MIM:601665 ; MONDO:0011122 ; NCI:C159658 ; NCI:C3283
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AACS
acetoacetyl-CoA synthetase
ISO
mRNA:altered expression:thalamus, hypothalamus (rat)
RGD
PMID:19219059
RGD:2326191
NCBI chr14:28,109,845...28,169,261
Ensembl chr14:28,109,869...28,169,253
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ABCA1
ATP binding cassette subfamily 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:15045599 RGD:1601092
NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
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ABCB11
ATP binding cassette subfamily B member 11
ISO
RGD
PMID:21726512
RGD:14688050
NCBI chr15:75,402,296...75,487,092
Ensembl chr15:75,402,396...75,486,403
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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 chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889
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ABCG8
ATP binding cassette subfamily G member 8
ISO
RGD
PMID:15331430
RGD:1601095
NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,596,531...96,616,229
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ACACB
acetyl-CoA 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 chr14:41,621,574...41,739,916
Ensembl chr14:41,621,574...41,739,916
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ACADM
acyl-CoA dehydrogenase medium chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,381...137,595,108
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ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
no_association
ISO
protein:increased expression:liver
RGD
PMID:17164796 PMID:19361967
RGD:1601115 RGD:2325227
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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ACHE
acetylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr 3:8,732,451...8,738,274
Ensembl chr 3:8,732,441...8,738,605
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ACLY
ATP citrate lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr12:20,796,678...20,841,301
Ensembl chr12:20,796,749...20,841,298
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ACOX1
acyl-CoA oxidase 1
treatment
ISO
RGD
PMID:30298849
RGD:401960083
NCBI chr12:5,450,913...5,479,550
Ensembl chr12:5,439,361...5,479,546
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ACP1
acid phosphatase 1
severity
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:2373509 PMID:9198310
RGD:1625289 RGD:2313187
NCBI chr 3:132,671,408...132,684,793
Ensembl chr 3:132,667,045...132,684,674
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ACP5
acid phosphatase 5, tartrate resistant
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 2:70,206,159...70,209,855
Ensembl chr 2:70,206,162...70,208,229
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ACSL1
acyl-CoA synthetase long chain family member 1
ISO
mRNA, protein:increased expression:adipose tissue, liver CTD Direct Evidence: marker/mechanism mRNA:decreased expression:subcutaneous adipose tissue
RGD CTD
PMID:1543733 PMID:16788709 PMID:20882379
RGD:1625735 RGD:1625737
NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,857...45,963,729
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ADA
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:16501670
RGD:1624289
NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
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ADARB1
adenosine deaminase RNA specific B1
ISO
associated with Hyperphagia
RGD
PMID:17567573
RGD:10450894
NCBI chr13:207,746,915...207,791,809
Ensembl chr13:207,691,174...207,791,802
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ADCY3
adenylate cyclase 3
treatment
ISO
ClinVar Annotator: match by term: ADCY3-related condition | ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity
ClinVar RGD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30568259
RGD:407550184
NCBI chr 3:113,875,005...113,969,053
Ensembl chr 3:113,876,339...113,982,369
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ADIPOQ
adiponectin, C1Q and collagen domain containing
treatment
ISO
CTD Direct Evidence: marker/mechanism|therapeutic 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 RGD
PMID:10092513 PMID:14617771 PMID:16092047 PMID:18303100 PMID:18651432 PMID:19606374 PMID:23731386 PMID:28843383 More...
RGD:14975146 RGD:1599149 RGD:2313239 RGD:5686809 RGD:5686813 RGD:8695927
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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ADIPOR1
adiponectin receptor 1
ISO
mRNA:decreased expression:lymphocyte
RGD
PMID:17391161
RGD:1625761
NCBI chr10:24,907,491...24,923,540
Ensembl chr10:24,907,491...24,915,686
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ADIPOR2
adiponectin receptor 2
treatment severity
ISO
mRNA:increased expression:liver associated with non-alcoholic fatty liver disease mRNA:decreased expression:liver (rat)
RGD
PMID:16483885 PMID:23838384 PMID:30131158 PMID:30225267
RGD:1625763 RGD:21406435 RGD:25824942 RGD:8695926
NCBI chr 5:68,755,789...68,807,247
Ensembl chr 5:68,755,811...68,807,235
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ADM
adrenomedullin
ISO
mRNA, protein:increased expression:adipose tissue
RGD
PMID:16793965
RGD:1625297
NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866
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ADORA1
adenosine A1 receptor
ISO
protein:increased expression:visceral adipose tissue:increased density of ligand binding sites on VAT in African American women compared to Caucasian women
RGD
PMID:16507638
RGD:1625369
NCBI chr 9:113,835,279...113,875,899
Ensembl chr 9:113,835,921...113,872,365
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ADRA2B
adrenoceptor alpha 2B
ISO
RGD
PMID:10404816
RGD:1300265
NCBI chr 3:45,760,966...45,762,306
Ensembl chr 3:45,760,541...45,764,175
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ADRB1
adrenoceptor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12032746
NCBI chr14:124,400,330...124,401,739
Ensembl chr14:124,400,330...124,401,739
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ADRB2
adrenoceptor beta 2
susceptibility no_association
ISO
DNA:polymorphisms: :p.R16G, p.Q27E CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12161655 PMID:15687340 PMID:17027833 PMID:17221209
RGD:1601119 RGD:1601122 RGD:737773
NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731
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ADRB3
adrenoceptor beta 3
no_association susceptibility
ISO
DNA:missense mutation:cds:p.W64R rs4994 (human) ClinVar Annotator: match by term: Obesity
RGD ClinVar OMIM
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:11882399 PMID:15472194 PMID:25741868 More...
RGD:5684409
NCBI chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562
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AFF4
ALF transcription elongation factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25730767
NCBI chr 2:135,196,067...135,283,931
Ensembl chr 2:135,200,076...135,283,675
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AGAP2
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
ISO
RGD
PMID:20068140
RGD:13838849
NCBI chr 5:23,015,777...23,035,943
Ensembl chr 5:23,017,176...23,033,517
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AGER
advanced glycosylation end-product specific receptor
ISO
protein:decreased expression:plasma (human)
RGD
PMID:22761461 PMID:23046363
RGD:7243247 RGD:7243250
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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AGRP
agouti related neuropeptide
ISO
ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, late-onset
OMIM ClinVar
PMID:11602360 PMID:12213871 PMID:15054840 PMID:25741868
NCBI chr 6:28,132,614...28,135,594
Ensembl chr 6:28,132,615...28,134,900
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AGT
angiotensinogen
susceptibility
ISO
DNA:polymorphism: :p.M235T DNA:polymorphism: :p.T174M
RGD
PMID:16514903 PMID:16713443
RGD:1601142 RGD:1601143
NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
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AGTR2
angiotensin II receptor type 2
ISO
RGD
PMID:15793237
RGD:2313554
NCBI chr X:95,267,709...95,272,237
Ensembl chr X:95,269,300...95,270,388
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AHI1
Abelson helper integration site 1
ISO
mRNA:increased expression:vastus lateralis
RGD
PMID:20045148
RGD:11537398
NCBI chr 1:28,566,279...28,760,471
Ensembl chr 1:28,566,397...28,760,467
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AHR
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27020609 PMID:30813227 PMID:31306034
NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
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AHSG
alpha 2-HS glycoprotein
susceptibility
ISO
protein:increased expression:serum
RGD
PMID:17011519 PMID:19228823
RGD:1625793 RGD:2313809
NCBI chr13:124,426,313...124,438,848
Ensembl chr13:124,426,308...124,438,840
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AK1
adenylate kinase 1
ISO
protein:increased expression:skeletal muscle
RGD
PMID:15855311
RGD:1601154
NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,033...268,365,598
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AKAP1
A-kinase anchoring protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20975297
NCBI chr12:33,396,473...33,410,395
Ensembl chr12:33,396,473...33,411,440
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AKR1C1
aldo-keto reductase family 1, member C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr10:65,580,297...65,594,998
Ensembl chr10:65,576,464...65,678,248
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AKT1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism protein:increased phosphorylation:aorta
CTD RGD
PMID:19293429 PMID:23954404
RGD:408364952
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AKT2
AKT serine/threonine kinase 2
ISO
protein:decreased activity:rectus abdominis (human) protein:decreased expression:plantaris (rat)
RGD
PMID:12663464 PMID:17923673 PMID:18508911
RGD:2313320 RGD:2313406 RGD:2313409
NCBI chr 6:48,555,785...48,620,472
Ensembl chr 6:48,555,795...48,587,919
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ALDH1L1
aldehyde dehydrogenase 1 family member L1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 7:53,748,585...53,794,777
Ensembl chr 7:53,748,653...53,794,706
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ALDH6A1
aldehyde dehydrogenase 6 family member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 7:97,360,583...97,381,885
Ensembl chr 7:97,360,610...97,381,830
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ALMS1
ALMS1 centrosome and basal body associated protein
ISO
OMIM:601665
MouseDO
NCBI chr 3:69,253,742...69,417,043
Ensembl chr 3:69,253,750...69,417,189
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ALOX12
arachidonate 12-lipoxygenase, 12S type
ISO
mRNA:increased expression:adipose tissue, fat cell
RGD
PMID:18780776 PMID:20978234
RGD:5509594 RGD:5509628
NCBI chr12:52,401,861...52,414,913
Ensembl chr12:52,401,810...52,414,903
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ALOX5AP
arachidonate 5-lipoxygenase activating protein
ISO
mRNA:increased expression:adipose tissue (mouse) mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:17379835 PMID:19596146
RGD:2313884 RGD:2313913
NCBI chr11:7,371,328...7,438,111
Ensembl chr11:7,411,644...7,438,108
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AMH
anti-Mullerian hormone
ISO
protein:decreased expression:serum
RGD
PMID:17109858
RGD:1601182
NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312
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ANGPTL4
angiopoietin like 4
resistance
ISO
CTD Direct Evidence: therapeutic
RGD CTD
PMID:17210919 PMID:28842503
RGD:1625353
NCBI chr 2:70,905,767...70,912,892
Ensembl chr 2:70,904,531...70,912,974
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ANGPTL6
angiopoietin like 6
ISO
OMIM:601665
MouseDO
NCBI chr 2:68,947,067...68,958,820
Ensembl chr 2:68,947,071...68,958,766
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APCDD1
APC down-regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28242765
NCBI chr 6:97,991,418...98,026,590
Ensembl chr 6:97,992,233...98,026,766
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APLN
apelin
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:17594060
RGD:1626170
NCBI chr X:106,236,746...106,246,563
Ensembl chr X:106,236,749...106,246,377
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APOA1
apolipoprotein A1
ISO
protein:decreased expression
RGD
PMID:9933608 PMID:12725089
RGD:1601185 RGD:2313959
NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713
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APOA2
apolipoprotein A2
ISO
protein:increased expression:serum
RGD
PMID:9002300 PMID:9933608
RGD:1601191 RGD:2313959
NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,319
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APOA5
apolipoprotein A5
ISO
DNA:SNP: :rs662799 (human)
RGD
PMID:25606423
RGD:329901774
NCBI chr 9:44,177,834...44,180,880
Ensembl chr 9:44,178,606...44,180,885
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APOB
apolipoprotein B
ISO
associated with Insulin Resistance;protein:increased expression:plasma
RGD
PMID:16752182 PMID:19592617
RGD:1601202 RGD:2313974
NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
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APOBEC1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
ISO
mRNA:increased expression:liver
RGD
PMID:8781289
RGD:1626278
NCBI chr 5:62,811,819...62,820,532
Ensembl chr 5:62,810,879...62,820,173
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APOC2
apolipoprotein C2
ISO
protein:increased expression:serum
RGD
PMID:9002300
RGD:1601191
NCBI chr 6:51,404,219...51,406,302
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APOC3
apolipoprotein C3
ISO
protein:increased expression:serum
RGD
PMID:9002300
RGD:1601191
NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533
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APOD
apolipoprotein D
ISO
DNA:polymorphism
RGD
PMID:7913935
RGD:2311179
NCBI chr13:132,514,546...132,562,594
Ensembl chr13:132,514,949...132,562,599
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APOE
apolipoprotein E
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9002300 PMID:17192461 PMID:20975297
RGD:1601191 RGD:1601230
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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APP
amyloid beta precursor protein
treatment
ISO
mRNA,protein:increased expression:adipocyte,plasma:
RGD
PMID:19672057
RGD:10054260
NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,435,094...189,716,056
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AQP7
aquaporin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16325777
NCBI chr10:33,098,746...33,130,245
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AR
androgen receptor
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG DNA:repeats: :GGN, CAG OMIM:601665
RGD MouseDO
PMID:12532157 PMID:18805913
RGD:1601246 RGD:2306771
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
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ARL13B
ADP ribosylation factor like GTPase 13B
ISO
protein:decreased expression:hypothalamus, cilium (mouse)
RGD
PMID:22581473
RGD:11553936
NCBI chr13:165,829,772...165,910,959
Ensembl chr13:165,828,059...165,910,961
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ASIP
agouti signaling protein
susceptibility
ISO
DNA, mRNA:deletion, insertions, increased expression: multiple organs OMIM:601665 CTD Direct Evidence: marker/mechanism
RGD MouseDO CTD
PMID:1473152 PMID:7987393 PMID:8146154 PMID:25447408 PMID:25448685 PMID:32937126 More...
RGD:1625724
NCBI chr17:37,542,615...37,718,787
Ensembl chr17:37,545,474...37,718,779
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ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
susceptibility
ISO
RGD
PMID:16286513
RGD:1601250
NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,341,322...90,370,996
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ATP4B
ATPase H+/K+ transporting subunit beta
treatment
ISO
RGD
PMID:25822172
RGD:14696745
NCBI chr11:78,780,013...78,785,143
Ensembl chr11:78,780,013...78,785,116
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ATP5F1B
ATP synthase F1 subunit beta
treatment
ISO
RGD
PMID:26880535
RGD:13782133
NCBI chr 5:21,984,750...21,992,393
Ensembl chr 5:21,984,580...21,992,407
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ATP5F1C
ATP synthase F1 subunit gamma
ISO
RGD
PMID:19549744
RGD:14696798
NCBI chr10:63,584,288...63,599,537
Ensembl chr10:63,583,695...63,599,453
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ATP5F1D
ATP synthase F1 subunit delta
treatment
ISO
RGD
PMID:27874268
RGD:13792665
NCBI chr 2:77,216,430...77,219,301
Ensembl chr 2:77,216,436...77,222,632
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ATP5MC2
ATP synthase membrane subunit c locus 2
ISO
RGD
PMID:26709097
RGD:11535661
NCBI chr 5:18,871,025...18,879,933
Ensembl chr 5:18,871,026...18,879,609
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ATPAF1
ATP synthase mitochondrial F1 complex assembly factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 6:164,830,623...164,858,741
Ensembl chr 6:164,830,749...164,862,218
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ATRN
attractin
ISO
RGD
PMID:10086355
RGD:734623
NCBI chr17:32,054,240...32,239,576
Ensembl chr17:32,054,249...32,239,519
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AZGP1
alpha-2-glycoprotein 1, zinc-binding
ISO
mRNA:decreased expression:fat pad protein:decreased expression:plasma mRNA, protein:decreased expression:fat pad, liver,plasma associated with colorectal cancer; protein:decreased expression:subcutaneous white adipose tissue
RGD
PMID:19934249 PMID:21136593 PMID:29755407
RGD:153350147 RGD:153350156 RGD:153350157
NCBI chr 3:7,867,521...7,874,857
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B2M
beta-2-microglobulin
ISO
protein:increased expression:urine
RGD
PMID:15517379
RGD:1601309
NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
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BAD
BCL2 associated agonist of cell death
ISO
protein:increased expression:heart left ventricle
RGD
PMID:18070754
RGD:2292682
NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863
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BAMBI
BMP and activin membrane bound inhibitor
ISO
mRNA:decreased expression:adipose tissue
RGD
PMID:22187378
RGD:14390162
NCBI chr10:40,053,368...40,058,590
Ensembl chr10:40,053,355...40,060,319
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BBS1
Bardet-Biedl syndrome 1
no_association
ISO
DNA:mutation: :p.M390R (human) OMIM:601665
RGD MouseDO
PMID:14993910 PMID:33722691
RGD:1601314 RGD:243065268
NCBI chr 2:5,886,989...5,906,468
Ensembl chr 2:5,886,990...5,906,388
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BBS2
Bardet-Biedl syndrome 2
susceptibility
ISO
DNA:SNPs
RGD
PMID:17003356
RGD:1601311
NCBI chr 6:18,542,383...18,575,338
Ensembl chr 6:18,542,386...18,575,514
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BBS4
Bardet-Biedl syndrome 4
onset
ISO
DNA:SNPs OMIM:601665
RGD MouseDO
PMID:17003356
RGD:1601311
NCBI chr 7:60,631,913...60,693,359
Ensembl chr 7:60,631,914...60,693,334
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BCHE
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:18452903 PMID:23000450 PMID:23073171 PMID:27163854
NCBI chr13:104,946,732...105,007,568
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BCL2
BCL2 apoptosis regulator
ISO
mRNA, protein:decreased expression:heart left ventricle
RGD
PMID:18202171
RGD:2293027
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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BDKRB1
bradykinin receptor B1
ISO
ob/ob mice mRNA:decreased expression:brown adipose tissue, heart mRNA:increased expression:white adipose tissue, hypothalamus
RGD
PMID:17184856
RGD:1625733
NCBI chr 7:117,491,350...117,492,410
Ensembl chr 7:117,491,350...117,492,410
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BDNF
brain derived neurotrophic factor
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:11840487 PMID:25741868 PMID:28492532
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
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BNIP3
BCL2 interacting protein 3
ISO
RGD
PMID:18070754
RGD:2292682
NCBI chr14:140,362,123...140,371,951
Ensembl chr14:140,362,127...140,371,907
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BRD2
bromodomain containing 2
ISO
RGD
PMID:19883376
RGD:9586446
NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,564...25,162,584
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BRS3
bombesin receptor subtype 3
ISO
RGD
PMID:9367152
RGD:734661
NCBI chr X:111,615,695...111,620,124
Ensembl chr X:111,615,564...111,620,124
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C3
complement C3
treatment
ISO
RGD
PMID:23118029
RGD:7411625
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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C5AR1
complement C5a receptor 1
treatment
ISO
RGD
PMID:23118029
RGD:7411625
NCBI chr 6:53,097,162...53,111,563
Ensembl chr 6:53,097,142...53,111,565
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CA3
carbonic anhydrase 3
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:adipocyte
CTD RGD
PMID:8476041 PMID:20882379
RGD:408426009
NCBI chr 4:51,227,485...51,237,861
Ensembl chr 4:51,227,485...51,237,844
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CADM2
cell adhesion molecule 2
ISO
DNA:SNP: :rs13078807 (human)
RGD
PMID:31341224
RGD:15092077
NCBI chr13:169,681,947...170,753,114
Ensembl chr13:169,688,958...170,014,005
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CANX
calnexin
ISO
protein:increased expression:subcutaneous adipose tissue
RGD
PMID:18567819
RGD:2314284
NCBI chr 2:78,879,031...78,915,828
Ensembl chr 2:78,879,033...78,915,827
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CAPN10
calpain 10
ISO
DNA:SNPs
RGD
PMID:16752174
RGD:1625047
NCBI chr15:139,557,643...139,568,764
Ensembl chr15:139,557,469...139,568,767
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CARTPT
CART prepropeptide
no_association susceptibility
ISO
DNA:deletion, substitution: :1457delA, 1475A>G (human) DNA:polymorphism:3' utr (human) ClinVar Annotator: match by term: Obesity
RGD ClinVar OMIM
PMID:10574510 PMID:10805512 PMID:11522684 PMID:15326462 PMID:25741868
RGD:2313633 RGD:2313634
NCBI chr16:48,043,558...48,045,592
Ensembl chr16:48,043,492...48,045,592
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CASP1
caspase 1, apoptosis-related cysteine peptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22325453
NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
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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 chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623
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CAV1
caveolin 1
ISO
RGD
PMID:22492718
RGD:6784520
NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
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CAV2
caveolin 2
ISO
RGD
PMID:22492718
RGD:6784520
NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277
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CCKAR
cholecystokinin A receptor
ISO
DNA:deletion
RGD
PMID:9192855 PMID:9530226
RGD:7257724 RGD:734711
NCBI chr 8:20,187,324...20,200,273
Ensembl chr 8:20,188,830...20,199,344
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CCL2
chemokine (C-C motif) ligand 2
ISO
protein, mRNA:increased expression:plasma, fat protein:increased expression:serum CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17803693 PMID:18469848 PMID:29035695
RGD:2306993 RGD:2307038
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCL4
C-C motif chemokine ligand 4
ISO
RGD
PMID:21862610
RGD:5683906
NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased expression:serum
RGD
PMID:18469848
RGD:2307038
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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CCR2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:adipose tissue
RGD
PMID:18492752
RGD:6483834
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
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CD163
CD163 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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CD36
CD36 molecule
ISO
mRNA, protein:increased expression:liver, gastrocnemius protein:increased expression:skeletal muscle, T-tubule
RGD
PMID:20435456 PMID:22615812 PMID:23743348 PMID:25477422
RGD:11041118 RGD:11041132 RGD:6893497 RGD:6893542
NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
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CD40
CD40 molecule
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21670556 PMID:29035695
RGD:7248753
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:20660932 PMID:21817098
RGD:5490592 RGD:5490970
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CD68
CD68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695
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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 chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061
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CDKAL1
CDK5 regulatory subunit associated protein 1 like 1
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
NCBI chr 7:15,910,645...16,569,643
Ensembl chr 7:15,910,666...16,626,276
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CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
protein:decreased expression:liver
RGD
PMID:23357529
RGD:10045356
NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831
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CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
RGD
PMID:22194422
RGD:8552660
NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854
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CDO1
cysteine dioxygenase type 1
ISO
RGD
PMID:16627576
RGD:2301355
NCBI chr 2:119,927,768...119,940,690
Ensembl chr 2:119,927,772...119,940,665
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CEBPA
CCAAT enhancer binding protein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28242765
NCBI chr 6:43,083,200...43,085,884
Ensembl chr 6:43,083,207...43,085,836
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CENPO
centromere protein O
ISO
ClinVar Annotator: match by term: ADCY3-related condition
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr 3:113,968,735...113,979,201
Ensembl chr 3:113,968,902...113,979,148
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CFD
complement factor D
ISO
mRNA, protein:decreased expression:adipocyte, serum
RGD
PMID:2197880 PMID:14564690
RGD:1624324 RGD:1624327
NCBI chr 2:77,509,792...77,511,988
Ensembl chr 2:77,509,795...77,511,974
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CIDEA
cell death inducing DFFA like effector a
ISO
protein:amino acid substitution:V115F CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16186410 PMID:20975297
RGD:1625390
NCBI chr 6:97,253,074...97,268,355
Ensembl chr 6:97,253,074...97,267,405
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CNR1
cannabinoid receptor 1
no_association
ISO
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
RGD CTD
PMID:17292652 PMID:17405839 PMID:18722357 PMID:19325539 PMID:19530697 PMID:31258545 More...
RGD:1626325 RGD:1626326 RGD:2314629 RGD:2314630 RGD:401827956
NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,467,835...56,492,602
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CNTF
ciliary neurotrophic factor
no_association
ISO
DNA:point mutation:intron:G>A
RGD
PMID:12404108 PMID:14747836
RGD:1626113 RGD:1626114
NCBI chr 2:12,492,777...12,495,401
Ensembl chr 2:12,493,169...12,496,159
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COL1A1
collagen type I alpha 1 chain
ISO
mRNA:increased expression:kidney (rat)
RGD
PMID:28746409
RGD:401965413
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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COL3A1
collagen type III alpha 1 chain
ISO
mRNA:increased expression:kidney (rat)
RGD
PMID:28746409
RGD:401965413
NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363
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COL4A1
collagen type IV alpha 1 chain
ISO
mRNA:increased expression:kidney (rat)
RGD
PMID:28746409
RGD:401965413
NCBI chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322
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COMT
catechol-O-methyltransferase
susceptibility
ISO
DNA:polymorphism:exon
RGD
PMID:17497175
RGD:2289713
NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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COX7C
cytochrome c oxidase subunit 7C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 2:94,345,436...94,347,709
Ensembl chr 2:94,345,447...94,352,651
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CPB2
carboxypeptidase B2
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11836301 PMID:16959692
RGD:2313645
NCBI chr11:21,234,447...21,298,250
Ensembl chr11:21,234,447...21,298,241
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CPE
carboxypeptidase E
no_association
ISO
DNA:transition:CDS:729T>C, amino acid S202P; decreased activity results in decrease in processing of proinsulin CTD Direct Evidence: marker/mechanism no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients OMIM:601665 DNA:SNP:intron (rs1946816, rs4481204) (human)
RGD CTD MouseDO
PMID:7663508 PMID:9662053 PMID:15358678 PMID:23434795 PMID:23900445
RGD:1626181 RGD:1626184 RGD:405650675
NCBI chr 8:43,568,744...43,695,475
Ensembl chr 8:43,565,054...43,696,268
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CPS1
carbamoyl-phosphate synthase 1
ISO
RGD
PMID:15481768
RGD:2303517
NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078
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CPT1A
carnitine palmitoyltransferase 1A
treatment
ISO
mRNA:decreased expression:liver mRNA:decreased expression:left ventricle myocardium (rat)
RGD
PMID:16751799 PMID:33310031
RGD:2311345 RGD:329955450
NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,911
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CRH
corticotropin releasing hormone
ISO
RGD
PMID:11564446
RGD:5508830
NCBI chr 4:68,481,696...68,486,122
Ensembl chr 4:68,484,053...68,486,121
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CRHBP
corticotropin releasing hormone binding protein
ISO
mRNA:decreased expression:anterior pituitary gland (rat)
RGD
PMID:10600923
RGD:5508840
NCBI chr 2:85,814,399...85,830,598
Ensembl chr 2:85,816,816...85,831,179
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CRHR1
corticotropin releasing hormone receptor 1
ISO
DNA:SNP:CDS:861C>T (human)
RGD
PMID:14724656
RGD:1626226
NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
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CRP
C-reactive protein, pentraxin-related
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum mRNA:increased expression:liver (rat)
CTD RGD
PMID:20660932 PMID:24042701 PMID:25612518
RGD:15045599 RGD:5490970
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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CS
citrate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 5:21,669,778...21,700,737
Ensembl chr 5:21,666,585...21,700,711
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CST3
cystatin C
ISO
protein:increased expression:serum (human) protein:increased expression:plasma (rat)
RGD
PMID:18374694 PMID:18946178
RGD:2314297 RGD:2314346
NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
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CTF1
cardiotrophin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21803294
NCBI chr 3:17,539,927...17,545,250
Ensembl chr 3:17,539,941...17,544,396
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CTSC
cathepsin C
ISO
RGD
PMID:3705543
RGD:1599645
NCBI chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,036...21,761,516
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CTSS
cathepsin S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21156398
NCBI chr 4:98,415,273...98,442,952
Ensembl chr 4:98,417,883...98,442,950
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO
DNA:SNP: :p.T280M (human)
RGD
PMID:20523302
RGD:4891903
NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
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CXCR4
C-X-C motif chemokine receptor 4
ISO
RGD
PMID:25016030
RGD:13673852
NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232
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CYB5A
cytochrome b5 type A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 1:149,737,584...149,773,222
Ensembl chr 1:149,737,571...149,773,219
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CYCS
cytochrome c, somatic
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16317704
NCBI chr18:47,169,921...47,172,212
Ensembl chr18:47,169,866...47,173,866
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CYP1B1
cytochrome P450 family 1 subfamily B member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27036855
NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683
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CYP26B1
cytochrome P450 family 26 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 3:70,573,551...70,593,416
Ensembl chr 3:70,572,197...70,593,408
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CYP27B1
cytochrome P450 family 27 subfamily B member 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 chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
CTD Direct Evidence: marker/mechanism protein:increased activity:liver,fat
CTD RGD
PMID:17049493 PMID:23954404
RGD:1626307
NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
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CYP2R1
cytochrome P450 family 2 subfamily R member 1
ISO
associated with hypertension:DNA:SNP:CDS: rs12794714 (human)
RGD
PMID:34906413
RGD:401900724
NCBI chr 2:44,375,432...44,394,122
Ensembl chr 2:44,375,520...44,396,334
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DCN
decorin
ISO
RGD
PMID:17244723
RGD:1600551
NCBI chr 5:91,678,601...91,713,925
Ensembl chr 5:91,682,658...91,714,235
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DCXR
dicarbonyl and L-xylulose reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr12:978,131...980,042
Ensembl chr12:978,139...982,259
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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...
NCBI chr15:48,239,932...48,292,413
Ensembl chr15:48,252,338...48,292,181
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DDIT3
DNA damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26655953
NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829
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DEAF1
DEAF1 transcription factor
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:404,514...427,584
Ensembl chr 2:404,533...427,542
G
DEFB1
defensin beta 1
ISO
mRNA:decreased expression:kidney
RGD
PMID:11340353
RGD:4892260
G
DGAT1
diacylglycerol O-acyltransferase 1
no_association treatment
ISO
DNA:polymorphism:C97T
RGD
PMID:10802663 PMID:14569040 PMID:18183944
RGD:10401058 RGD:1625597 RGD:734536
NCBI chr 4:452,890...463,665
Ensembl chr 4:452,662...466,684
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DIO2
iodothyronine deiodinase 2
no_association
ISO
protein:substitution:Thr92Ala
RGD
PMID:17077128
RGD:1626439
NCBI chr 7:103,096,414...103,110,749
Ensembl chr 7:103,096,433...103,323,258
G
DIP2C
disco interacting protein 2 homolog C
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:25741868
NCBI chr10:68,770,149...69,141,876
Ensembl chr10:68,770,164...69,141,871
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DIXDC1
DIX domain containing 1
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
NCBI chr 9:39,666,454...39,734,909
G
DNMT3A
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:24614070 PMID:25741868 PMID:28492532
NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087
G
DPYD
dihydropyrimidine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,414...120,712,459
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DRD1
dopamine receptor D1
treatment
ISO
protein:increased serine phosphorylation:renal proximal tubule, membrane (rat)
RGD
PMID:15983225 PMID:17191082
RGD:7248449 RGD:7248552
NCBI chr16:49,189,555...49,193,722
Ensembl chr16:49,189,602...49,191,976
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DRD2
dopamine receptor D2
ISO
mRNA:decreased expression:ventral tegmental area (rat) DNA:polymorphism DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple
RGD
PMID:15939106 PMID:17108814 PMID:18477764
RGD:1600904 RGD:1600905 RGD:2311581
NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599
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DRD4
dopamine receptor D4
ISO
protein:decreased expression:kidney (rat)
RGD
PMID:20810614
RGD:7248616
NCBI chr 2:398,766...401,539
Ensembl chr 2:398,766...402,433
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DUSP1
dual specificity phosphatase 1
susceptibility
ISO
RGD
PMID:16814733
RGD:2298673
NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
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ECH1
enoyl-CoA hydratase 1
treatment
ISO
RGD
PMID:31961704
RGD:21408561
NCBI chr 6:47,627,056...47,638,961
Ensembl chr 6:47,627,062...47,639,291
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ECHS1
enoyl-CoA hydratase, short chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,339,364...141,348,994
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EDN1
endothelin 1
ISO
DNA:polymorphism:exon:p.K198N (human)
RGD
PMID:17444275
RGD:1625065
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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EFNB1
ephrin B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24098442
NCBI chr X:54,947,339...54,961,403
Ensembl chr X:54,948,342...54,973,629
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EGFR
epidermal growth factor receptor
ISO
protein:decreased phosphorylation:liver (mouse)
RGD
PMID:3624263
RGD:5131534
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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EHD1
EH domain containing 1
ISO
RGD
PMID:21365757
RGD:8661255
NCBI chr 2:7,299,295...7,321,580
Ensembl chr 2:7,298,208...7,321,576
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ELOVL6
ELOVL fatty acid elongase 6
ISO
mRNA,protein:increased expression:liver:
RGD
PMID:31988048
RGD:21403676
NCBI chr 8:112,038,670...112,190,079
Ensembl chr 8:112,027,054...112,191,274
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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 6:77,723,374...77,747,780
Ensembl chr 6:77,718,849...77,747,771
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ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
susceptibility
ISO
ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity disorder
ClinVar OMIM
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 More...
NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595
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ENTPD6
ectonucleoside triphosphate diphosphohydrolase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr17:30,908,747...30,930,774
Ensembl chr17:30,908,252...30,934,083
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EP300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26441656
NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
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ESR1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11095962 PMID:20667977 PMID:22230815
RGD:8553065 RGD:8553199
NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
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ESR2
estrogen receptor 2
ISO
RGD
PMID:22230815
RGD:8553199
NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
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ESRRA
estrogen related receptor alpha
no_association
ISO
RGD
PMID:16755280
RGD:1625637
NCBI chr 2:7,803,504...7,812,868
Ensembl chr 2:7,803,510...7,813,098
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ETFDH
electron transfer flavoprotein dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 8:47,608,499...47,655,889
Ensembl chr 8:47,608,772...47,657,436
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F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21210148 PMID:22841818 PMID:23628972
RGD:5147773 RGD:7387310
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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F7
coagulation factor VII
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
RGD
PMID:9258277 PMID:14513073 PMID:16739871 PMID:19329212
RGD:1625710 RGD:2312379 RGD:2312395 RGD:2312404
NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,137...78,518,668
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FAAH
fatty acid amide hydrolase
ISO
DNA:polymorphism CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15809662 PMID:19103437 PMID:20716455
RGD:1625726
NCBI chr 6:165,060,279...165,079,340
Ensembl chr 6:165,060,285...165,079,767
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FABP1
fatty acid binding protein 1
ISO
Western diet-induced obesity; DNA:mutation::Fabp1 knockout mice
RGD
PMID:17058218
RGD:1626440
NCBI chr 3:57,850,511...57,854,966
Ensembl chr 3:57,850,499...57,854,956
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FABP2
fatty acid binding protein 2
onset no_association
ISO
Early onset of obesity and resistance to reducing visceral white adipose tissue; DNA:polymorphism:CDS:amino acid A54T, in Japanese women with a BMI > 25 DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups DNA:polymorphism:CDS:p.A54T (human)
RGD
PMID:14981227 PMID:15620432 PMID:17211557
RGD:1578458 RGD:1626400 RGD:1626407
NCBI chr 8:104,464,342...104,468,059
Ensembl chr 8:104,464,342...104,470,480
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FABP3
fatty acid binding protein 3
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:decreased expression:skeletal muscle
RGD
PMID:17515913
RGD:2307328
NCBI chr 6:87,943,003...87,950,708
Ensembl chr 6:87,942,790...87,951,610
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FABP4
fatty acid binding protein 4
ISO
RGD
PMID:8910278
RGD:737747
NCBI chr 4:55,096,400...55,101,209
Ensembl chr 4:55,096,404...55,101,896
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FADD
Fas associated via death domain
ISO
protein:increased expression:heart left ventricle
RGD
PMID:18202171
RGD:2293027
NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
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FADS1
fatty acid desaturase 1
ISO
protein:decreased expression:microsomes, liver
RGD
PMID:8446010
RGD:1625421
NCBI chr 2:9,735,425...9,747,405
Ensembl chr 2:9,735,322...9,750,506
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FANCA
FA complementation group A
ISO
RGD
PMID:22482891
RGD:11046266
NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152
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FANCC
FA complementation group C
ISO
RGD
PMID:22482891
RGD:11046266
NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801
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FASN
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr12:922,405...937,560
Ensembl chr12:920,509...937,561
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FBXO11
F-box protein 11
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
NCBI chr 3:92,696,402...92,792,623
Ensembl chr 3:92,696,441...92,792,616
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FGD4
FYVE, RhoGEF and PH domain containing 4
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:26825290 PMID:27328748 PMID:28492532
NCBI chr 5:41,571,054...41,636,058
Ensembl chr 5:41,570,282...41,636,028
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FGF21
fibroblast growth factor 21
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24184811 PMID:26797127
NCBI chr 6:54,082,653...54,084,532
Ensembl chr 6:54,080,739...54,084,601
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FGFR1
fibroblast growth factor receptor 1
ISO
mRNA:increased expression:adipose tissue: mRNA:increased expression:hypothalamus:
RGD
PMID:21430024
RGD:10402094
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
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FGG
fibrinogen gamma chain
ISO
protein:decreased expression:plasma
RGD
PMID:22134356
RGD:11352709
NCBI chr 8:74,553,040...74,562,151
Ensembl chr 8:74,553,105...74,563,688
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FGGY
FGGY carbohydrate kinase domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29220483
NCBI chr 6:152,754,923...153,213,179
Ensembl chr 6:152,754,924...153,213,127
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27071101
NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
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FOXA2
forkhead box A2
ISO
RGD
PMID:12865419
RGD:1627574
NCBI chr17:29,997,397...30,001,704
Ensembl chr17:29,997,401...30,001,707
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FOXC2
forkhead box C2
ISO
DNA:polymorphism:5'ut:-512C>T(human)
RGD
PMID:15601967
RGD:1601218
NCBI chr 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367
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FOXO3
forkhead box O3
ISO
protein:increased expression:myocardium: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16467659 PMID:23954404
RGD:10402201
NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
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FTL
ferritin light chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 6:54,231,121...54,232,756
Ensembl chr 6:54,231,172...54,232,750
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FTO
FTO alpha-ketoglutarate dependent dioxygenase
severity
ISO
DNA:SNPs: :rs9939609, rs1421085, rs17817449 (human) DNA:SNP:intron:rs9939609 (human) mRNA, protein:increased expression:liver mRNA:increased expression:pancreas DNA:SNP:intron:rs17817449 (human) DNA:SNP: :rs3751812 (human) CTD Direct Evidence: marker/mechanism DNA:SNP: :rs9939609 (human)
RGD CTD
PMID:17496892 PMID:19079260 PMID:19079261 PMID:19151714 PMID:19918250 PMID:21076408 PMID:21919686 PMID:23111453 PMID:23134754 PMID:25606423 PMID:29540276 PMID:31801409 PMID:32420297 PMID:35945320 More...
RGD:329812007 RGD:329812010 RGD:329812016 RGD:329812040 RGD:329845887 RGD:329901774 RGD:329951013 RGD:329951016
NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,718
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FXN
frataxin
ISO
DNA:deletion:exon (mouse)
RGD
PMID:17404227
RGD:2307045
NCBI chr 1:222,412,485...222,433,224
Ensembl chr 1:222,412,509...222,434,702
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G6PD
glucose-6-phosphate dehydrogenase
ISO
mRNA, protein:increased expression:white fat associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:liver
RGD
PMID:15923630 PMID:19230846
RGD:2307340 RGD:2307347
NCBI chr X:125,029,147...125,041,040
Ensembl chr X:125,029,150...125,041,040
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GABRA6
gamma-aminobutyric acid type A receptor subunit alpha6
ISO
DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism
RGD
PMID:12080446
RGD:1626491
NCBI chr16:61,855,698...61,872,503
Ensembl chr16:61,855,468...61,872,279
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GAL
galanin and GMAP prepropeptide
no_association
ISO
protein:increased expression:plasma
RGD
PMID:11220530 PMID:15930442
RGD:1624334 RGD:1625748
NCBI chr 2:4,351,113...4,357,167
Ensembl chr 2:4,351,113...4,356,647
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GALP
galanin like peptide
ISO
mRNA:decreased expression:arcuate nucleus
RGD
PMID:15256810
RGD:2313739
NCBI chr 6:60,485,612...60,493,591
Ensembl chr 6:60,485,649...60,493,584
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GALR1
galanin receptor 1
no_association
ISO
RGD
PMID:15930442
RGD:1625748
NCBI chr 1:147,442,977...147,466,731
Ensembl chr 1:147,443,821...147,463,542
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GAPDH
glyceraldehyde-3-phosphate dehydrogenase
treatment
ISO
RGD
PMID:27987997
RGD:13792668
NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991
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GAS7
growth arrest specific 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270708
NCBI chr12:54,752,436...54,974,535
Ensembl chr12:54,752,507...54,973,515
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GCG
glucagon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20065960
NCBI chr15:68,800,557...68,810,268
Ensembl chr15:68,800,560...68,810,242
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GCKR
glucokinase regulator
no_association
ISO
DNA:mutations:CDS:no association with mutations P446L, R590Y, R227X or R518Q in obese French patients despite localization of gene within a QTL for obesity-related phenotypes
RGD
PMID:12739015
RGD:1626607
NCBI chr 3:111,649,557...111,683,539
Ensembl chr 3:111,649,539...111,676,772
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GFPT1
glutamine--fructose-6-phosphate transaminase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11118009 PMID:20882379
RGD:1625423
NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:73,028,804...73,085,319
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GHRL
ghrelin and obestatin prepropeptide
susceptibility
ISO
ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, age at onset of
ClinVar OMIM
PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868
NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917
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GHSR
growth hormone secretagogue receptor
ISO
DNA:point mutation:exon:F279L
RGD
PMID:16511600
RGD:1625270
NCBI chr13:110,981,465...111,006,149
Ensembl chr13:110,983,298...111,038,324
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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:2312547 RGD:2312551 RGD:2312588
NCBI chr12:25,160,783...25,167,952
Ensembl chr12:25,160,789...25,167,940
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GIPR
gastric inhibitory polypeptide receptor
susceptibility
ISO
DNA:polymorphism:intron 1 C>A (rs2302382) (human) mRNA:splice variant:pancreatic islet (mouse) mRNA:reduced expression:fat tissue (human)
RGD
PMID:12068290 PMID:17395281 PMID:17971513 PMID:19254363
RGD:2312612 RGD:2312615 RGD:2312616 RGD:737714
NCBI chr 6:52,022,667...52,033,959
Ensembl chr 6:52,022,681...52,033,954
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GJA5
gap junction protein alpha 5
ISO
mRNA, protein:decreased expression:mesenteric artery
RGD
PMID:18324386
RGD:7207466
NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286
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GLDC
glycine decarboxylase
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:10873393 PMID:11286506 PMID:12126939 PMID:15670722 PMID:15791207 PMID:17361008 PMID:20301531 PMID:25741868 PMID:26179960 PMID:27362913 PMID:28492532 More...
NCBI chr 1:215,608,854...215,715,062
Ensembl chr 1:215,608,849...215,715,059
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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 chr 7:34,497,779...34,534,356
Ensembl chr 7:34,497,759...34,534,627
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GLRX
glutaredoxin
ISO
protein:increased expression:renal visceral adipose:
RGD
PMID:23404913
RGD:9686064
NCBI chr 2:102,425,580...102,437,851
Ensembl chr 2:102,425,580...102,437,858
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GLUL
glutamate-ammonia ligase
ISO
CTD Direct Evidence: marker/mechanism 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 RGD
PMID:15481771 PMID:20882379
RGD:2301479
NCBI chr 9:123,751,551...123,762,575
Ensembl chr 9:123,748,380...123,762,545
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GNAS
GNAS complex locus
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:11784876 PMID:12970262 PMID:21525160 PMID:23281139 PMID:23796510 PMID:25741868 PMID:25802881 PMID:28492532 PMID:29059381 More...
NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
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GNB3
G protein subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15961981 PMID:16141801
NCBI chr 5:63,863,656...63,871,352
Ensembl chr 5:63,863,661...63,870,433
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GNPDA2
glucosamine-6-phosphate deaminase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19079261
NCBI chr 8:35,192,509...35,219,527
Ensembl chr 8:35,193,659...35,216,206
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GOT2
glutamic-oxaloacetic transaminase 2
ISO
protein:increased expression:skeletal muscle tissue, T-tubule (rat)
RGD
PMID:23743348
RGD:11041118
NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,200...20,432,067
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GPAM
glycerol-3-phosphate acyltransferase, mitochondrial
ISO
mRNA:increased expression:pancreatic islet
RGD
PMID:9032096
RGD:2313659
NCBI chr14:122,538,600...122,582,390
Ensembl chr14:122,538,491...122,579,436
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GPR12
G protein-coupled receptor 12
ISO
OMIM:601665
MouseDO
NCBI chr11:4,426,797...4,427,953
Ensembl chr11:4,424,440...4,428,448
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GPR17
G protein-coupled receptor 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34144038
NCBI chr15:59,692,992...59,702,513
Ensembl chr15:59,692,996...59,701,265
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GPT2
glutamic--pyruvic transaminase 2
ISO
protein:increased expression, activity:liver:
RGD
PMID:25865565
RGD:11342811
NCBI chr 6:37,625,428...37,669,695
Ensembl chr 6:37,625,436...37,669,663
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GPX1
glutathione peroxidase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15184668 PMID:30298849
RGD:401960083
NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
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GPX3
glutathione peroxidase 3
treatment
ISO
mRNA:decreased expression:adipose tissue (rat) CTD Direct Evidence: marker/mechanism protein:decreased expression, activity:plasma (mouse) mRNA:decreased expression:embryo, blastocyst protein:decreased expression:plasma
RGD CTD
PMID:11328671 PMID:18562625 PMID:19212806 PMID:19270708 PMID:21535898 PMID:21862610 PMID:31791316 More...
RGD:2307430 RGD:2312633 RGD:401827913 RGD:401827923 RGD:5683906
NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
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GRIA4
glutamate ionotropic receptor AMPA type subunit 4
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
NCBI chr 9:35,442,060...35,803,989
Ensembl chr 9:35,442,091...35,805,357
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HADH
hydroxyacyl-CoA dehydrogenase
ISO
protein:increased expression:skeletal muscle CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16088331 PMID:20882379
RGD:2302228
NCBI chr 8:113,952,561...114,005,510
Ensembl chr 8:113,950,034...114,005,511
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HCRT
hypocretin neuropeptide precursor
ISO
mRNA:increased expression:perifornical nucleus protein:increased expression:plasma:fasting patients, no change after weight loss due to gastric banding protein:decreased expression:plasma:orexin A NOT orexin B polypeptide, expression inversely related to degree of obesity CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12560202 PMID:15970339 PMID:16135994 PMID:27071101
RGD:1358428 RGD:1600932 RGD:1600933
NCBI chr12:20,588,597...20,589,991
Ensembl chr12:20,588,027...20,589,988
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HDAC4
histone deacetylase 4
ISO
mRNA,protein:decreased expression:mononuclear cell, adipose tissue:
RGD
PMID:24086512
RGD:9681453
NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301
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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 chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000
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HGF
hepatocyte growth factor
ISO
protein:increased expression:serum
RGD
PMID:12706940
RGD:1642704
NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
associated with hepatocellular carcinoma;RNA:decreased expression:liver:
RGD
PMID:31321740
RGD:155882550
NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
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HK1
hexokinase 1
susceptibility
ISO
RGD
PMID:131232 PMID:12524468
RGD:1601527 RGD:1601528
NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924
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HK2
hexokinase 2
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:gastrocnemius
CTD RGD
PMID:11319725 PMID:16555472 PMID:20882379
RGD:1624365 RGD:2313227
NCBI chr 3:68,155,656...68,231,187
Ensembl chr 3:68,153,835...68,231,615
G
HMGA2
high mobility group AT-hook 2
ISO
RGD
PMID:10742101
RGD:1601569
NCBI chr 5:30,188,521...30,329,635
G
HMGB2
high mobility group box 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr14:16,709,966...16,712,288
Ensembl chr14:16,710,047...16,717,101
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HMGCS1
3-hydroxy-3-methylglutaryl-CoA synthase 1
ISO
protein:decreased activity:liver (rat)
RGD
PMID:1685984
RGD:2326155
NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,218...27,957,193
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HMOX1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18334666 PMID:18375438 PMID:19171794
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HOXB5
homeobox B5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22484627
NCBI chr12:24,845,224...24,849,639
Ensembl chr12:24,845,225...24,847,918
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HP
haptoglobin
treatment
ISO
mRNA:increased expression:white fat protein:increased expression:serum
RGD
PMID:11807829 PMID:15181041 PMID:17161237 PMID:19917068
RGD:1626339 RGD:1626346 RGD:1626349 RGD:9685197
NCBI chr 6:14,980,382...14,985,245
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HRH3
histamine receptor H3
ISO
RGD
PMID:17189541
RGD:1626405
NCBI chr17:61,622,865...61,627,278
Ensembl chr17:61,622,938...61,627,278
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HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:adipose tissue:13-fold higher in obese subjects than controls, protein expression also increased
CTD RGD
PMID:15131764 PMID:16612591 PMID:16914598 PMID:17628001 PMID:21786805
RGD:1625071 RGD:1625072 RGD:1625073
NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
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HSD11B2
hydroxysteroid 11-beta dehydrogenase 2
resistance
ISO
transgenic mice expressing human HSD11B2 mRNA:increased expression:adipose tissue:subcutaneous not retroperitoneal fat
RGD
PMID:15793240 PMID:17208436
RGD:1625081 RGD:1625083
NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,671
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HSPA5
heat shock protein family A (Hsp70) member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26655953
NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894
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HTR1B
5-hydroxytryptamine receptor 1B
ISO
protein:increase expression:arcuate nucleus
RGD
PMID:10564740
RGD:1626450
NCBI chr 1:88,597,510...88,598,682
Ensembl chr 1:88,596,237...88,601,757
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HTR2A
5-hydroxytryptamine receptor 2A
no_association susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:-1438G>A DNA:SNP:intron (rs912127) (human)
CTD RGD
PMID:16328014 PMID:16491645 PMID:17097612 PMID:23900445
RGD:1624369 RGD:1624370 RGD:405650675
NCBI chr11:20,555,939...20,620,225
Ensembl chr11:20,555,963...20,619,625
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HTR2C
5-hydroxytryptamine receptor 2C
susceptibility
ISO
associated with Schizophrenia and Psychotic Disorders;DNA:polymorphisms:promoter:multiple DNA:polymorphism:promoter:-759C>T CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15048662 PMID:17016522 PMID:17702092 PMID:19142110
RGD:1624982 RGD:1624991
NCBI chr X:94,053,415...94,313,352
Ensembl chr X:94,053,456...94,313,355
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:submandibular gland (rat) protein:increased secretion:plasma (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11782876 PMID:20004360 PMID:20973827
RGD:4145329 RGD:4145463
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
ISO
RGD
PMID:14969338
RGD:1626475
NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27020609
NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
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IFNG
interferon gamma
ISO
associated with Asthma;protein:increased expression:serum
RGD
PMID:19575934
RGD:2311494
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IGF1R
insulin like growth factor 1 receptor
ISO
mRNA:decreased expression:heart (rat)
RGD
PMID:11009458
RGD:12904882
NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
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IGF2
insulin like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11528401
NCBI chr 2:1,469,183...1,496,417
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IGFBP2
insulin like growth factor binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17259371 PMID:17426323 PMID:22537059
RGD:1626478 RGD:1626479
NCBI chr15:118,822,092...118,850,985
Ensembl chr15:118,822,047...118,850,976
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IGFBP3
insulin like growth factor binding protein 3
ISO
mRNA, protein:decreased expression:pancreatic fat pad
RGD
PMID:22067319
RGD:10402755
NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
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IGFBP6
insulin like growth factor binding protein 6
ISO
human transgene overexpressed in mouse brain
RGD
PMID:15889232
RGD:2301717
NCBI chr 5:18,352,884...18,357,225
Ensembl chr 5:18,352,400...18,357,225
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IKBKB
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
protein:increased expression:liver:
RGD
PMID:15685173
RGD:10045952
NCBI chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,549
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IL10
interleukin 10
ISO
protein:increase expression:serum
RGD
PMID:18787467 PMID:28843383
RGD:14975146 RGD:2308945
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL15
interleukin 15
ISO
mRNA, protein:altered expression:skeletal muscle, plasma
RGD
PMID:18697873
RGD:2313573
NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
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IL18
interleukin 18
treatment
ISO
RGD
PMID:16732281 PMID:20490358
RGD:14695532 RGD:7175343
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL1RN
interleukin 1 receptor antagonist
ISO
mRNA, protein:increased expression:adipose tissue
RGD
PMID:12716739 PMID:12975454
RGD:1626664 RGD:1626665
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IL6
interleukin 6
ISO
DNA:polymorphism>promoter:174G>C CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) mRNA:increased expression:islet of Langerhans
RGD CTD
PMID:16493118 PMID:19228869 PMID:20141834 PMID:21826222 PMID:24042701
RGD:10402828 RGD:1601582 RGD:2307257
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IL6R
interleukin 6 receptor
susceptibility
ISO
DNA:duplication DNA:polymorphism: :p.D358A protein:increased expression:serum DNA:SNP, haplotypes:promoter:-208G>A (rs4845617) (human)
RGD
PMID:12917504 PMID:16817825 PMID:17434052 PMID:17984249
RGD:10402807 RGD:1625428 RGD:1625429 RGD:1625430
NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282
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IL7
interleukin 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20376352
NCBI chr 4:57,677,895...57,744,713
Ensembl chr 4:57,684,796...57,744,709
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INPP5E
inositol polyphosphate-5-phosphatase E
treatment
ISO
protein:increased expression:skeletal muscle, white adipose tissue CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19668215 PMID:23349329
RGD:12911211
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INPPL1
inositol polyphosphate phosphatase like 1
ISO
DNA:SNPs: :rs2276047,snp8,rs9886(human)
RGD
PMID:15220217
RGD:1626127
NCBI chr 9:6,793,971...6,807,286
Ensembl chr 9:6,793,069...6,808,028
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INS
insulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2777199 PMID:8923850 PMID:11528401 PMID:29035695
NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
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IRS1
insulin receptor substrate 1
ISO
protein:decreased tyrosine phosphorylation, increased serine phosphorylation:skeletal muscle CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22982470 PMID:23954404
RGD:7207062
NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,307,284
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ITGAM
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:monocyte (human)
CTD RGD
PMID:21446916 PMID:29035695
RGD:329901665
NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,268,018
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ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
RGD
PMID:22134356
RGD:11352709
NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229
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JAK2
Janus kinase 2
ISO
protein:decreased expression:hypothalamus mRNA:decreased expression:omental adipose tissue:by microarray
RGD
PMID:14630696 PMID:23397595
RGD:10411893 RGD:1627661
NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
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JUND
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:heart
RGD
PMID:30629164
RGD:401900736
NCBI chr 2:59,530,991...59,532,846
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KCNH2
potassium voltage-gated channel subfamily H 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...
NCBI chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111
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KCNMA1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27605626
NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,005...80,106,295
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KCTD15
potassium channel tetramerization domain containing 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19079261
NCBI chr 6:43,528,677...43,545,834
Ensembl chr 6:43,529,806...43,544,186
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KDM3A
lysine demethylase 3A
ISO
OMIM:601665
RGD MouseDO
PMID:19875498
RGD:9590220
NCBI chr 3:58,300,109...58,355,000
Ensembl chr 3:58,302,949...58,354,945
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KIF4A
kinesin family member 4A
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:25741868
NCBI chr X:56,319,453...56,447,560
Ensembl chr X:56,319,529...56,447,553
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KITLG
KIT ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23954404
NCBI chr 5:94,016,992...94,110,219
Ensembl chr 5:94,017,387...94,110,214
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LACTB
lactamase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18344982
NCBI chr 1:108,909,690...108,924,509
Ensembl chr 1:108,909,693...108,924,511
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LBP
lipopolysaccharide binding protein
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19917068 PMID:23349936
RGD:9685197
NCBI chr17:41,398,935...41,429,467
Ensembl chr17:41,398,791...41,429,551
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LCN2
lipocalin 2
ISO
mRNA:increased expression:epididymal fat pad, adipose cell (rat) mRNA:decreased expression:ovary, testicle protein:increased expression:serum
RGD
PMID:18292240 PMID:21143924 PMID:32627017
RGD:126790490 RGD:126790530 RGD:2316514
NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
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LDLR
low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25554529
NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827
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LEP
leptin
treatment no_association
ISO
mouse protein in a rat model in a US Caucasian population ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity
RGD ClinVar
PMID:10029567 PMID:15910756 PMID:23793169 PMID:25741868 PMID:28492532
RGD:10053612 RGD:10053638 RGD:1643130
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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LEPR
leptin receptor
susceptibility no_association treatment sexual_dimorphism disease_progression
ISO
DNA:polymorphism:exon:p.Q223R (human) compared to BN ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity disorder
RGD ClinVar
PMID:8666155 PMID:9545018 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:16284652 PMID:17785359 PMID:18204169 PMID:18490929 PMID:20159938 PMID:21393862 PMID:21744741 PMID:22331430 PMID:25741868 PMID:26467025 PMID:27465994 PMID:28492532 PMID:33568522 More...
RGD:10412018 RGD:10412023 RGD:12911217 RGD:401965412 RGD:5128855 RGD:7365117
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
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LEPROT
leptin receptor overlapping transcript
ISO
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:146,974,641...146,987,261
Ensembl chr 6:146,974,639...146,987,242
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LIPC
lipase C, hepatic type
ISO
protein:altered expression:liver, plasma (rat) associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human)
RGD
PMID:11544558 PMID:12843191
RGD:2308784 RGD:2308835
NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963
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LIPE
lipase E, hormone sensitive type
ISO
mRNA:decreased expression:white fat
RGD
PMID:17712951
RGD:2313580
NCBI chr 6:49,543,671...49,560,126
Ensembl chr 6:49,540,708...49,560,125
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LIPG
lipase G, endothelial type
ISO
protein:increased expression:plasma
RGD
PMID:16772345
RGD:1641819
NCBI chr 1:99,081,940...99,110,671
Ensembl chr 1:99,081,938...99,110,874
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LOC100516390
ankyrin repeat domain-containing protein 26
ISO
OMIM:601665
RGD MouseDO
PMID:18162531
RGD:9681744
NCBI chr10:48,694,806...48,795,783
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LOC106504546
serpin A12
treatment
ISO
RGD
PMID:16030142
RGD:1547845
NCBI chr 7:115,720,892...115,734,810
Ensembl chr 7:115,721,098...115,734,978
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LOC110255234
liver carboxylesterase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20975297
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LOC110256000
membrane primary amine oxidase-like
ISO
RGD
PMID:17977742
RGD:2313916
NCBI chr12:19,996,324...20,007,006
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LOC110258578
interleukin-1 beta-like
treatment
ISO
protein:increased expression:kidney (rat) protein:increased expression:plasma (mouse)
RGD
PMID:16567518 PMID:20490358 PMID:23150506 PMID:24146106 PMID:28843383
RGD:10450599 RGD:14975146 RGD:1626637 RGD:7175086 RGD:7175343
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LPL
lipoprotein lipase
treatment
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:white fat
CTD RGD
PMID:17712951 PMID:18344982 PMID:18952837 PMID:27160499 PMID:28514832
RGD:13793401 RGD:13794378 RGD:2313300 RGD:2313580
NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
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MAPK1
mitogen-activated protein kinase 1
ISO
protein:increased phosphorylation:endometrium (human)
RGD
PMID:20074784
RGD:13782055
NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
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MAPK3
mitogen-activated protein kinase 3
ISO
protein:increased phosphorylation:endometrium (human)
RGD
PMID:20074784
RGD:13782055
NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
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MAPT
microtubule associated protein tau
ISO
RGD
PMID:25257559
RGD:13800921
NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373
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MBL2
mannose binding lectin 2
ISO
DNA:missense mutations:cds:p.R52C, p.G57E (human)
RGD
PMID:16955210
RGD:4889156
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MC3R
melanocortin 3 receptor
susceptibility
ISO
DNA:missense mutations:cds:p.T6K, p.V81I (human) ClinVar Annotator: match by term: Obesity
RGD ClinVar
PMID:16123355
RGD:6484587
NCBI chr17:56,868,525...56,869,605
Ensembl chr17:56,868,525...56,869,605
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MC4R
melanocortin 4 receptor
ISO
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 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
ClinVar
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:17185898 PMID:17286227 PMID:17306938 PMID:17357083 PMID:17492953 PMID:17517246 PMID:17519222 PMID:17579204 PMID:17590021 PMID:17628007 PMID:17668051 PMID:17986382 PMID:18559663 PMID:18801902 PMID:18835933 PMID:18997677 PMID:19011902 PMID:19091795 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 More...
NCBI chr 1:160,772,013...160,774,124
Ensembl chr 1:160,772,013...160,774,124
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MCHR1
melanin concentrating hormone receptor 1
ISO
mRNA:increased expression:hypothalamus
RGD
PMID:15363890
RGD:1624360
NCBI chr 5:7,735,752...7,752,006
Ensembl chr 5:7,735,825...7,738,701
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ME1
malic enzyme 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270708
NCBI chr 1:82,799,878...82,989,895
Ensembl chr 1:82,799,684...82,991,085
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MFN2
mitofusin 2
ISO
mRNA:decreased expression:skeletal muscle tissue (human) mRNA:decreased expression:liver (rat)
RGD
PMID:12598526 PMID:25336449
RGD:12880438 RGD:1601412
NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
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MGRN1
mahogunin ring finger 1
ISO
RGD
PMID:16638826
RGD:1641947
NCBI chr 3:37,694,798...37,748,106
Ensembl chr 3:37,694,808...37,748,067
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MIF
macrophage migration inhibitory factor
ISO
DNA:polymorphisms:promoter mRNA, protein:increased expression:mononuclear cell, plasma
RGD
PMID:15472203 PMID:16247506
RGD:1641950 RGD:1641953
NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
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MIR107
microRNA mir-107
ISO
RNA:decreased expression:liver:
RGD
PMID:21120623
RGD:14975298
NCBI chr14:101,420,743...101,420,829
Ensembl chr14:101,420,743...101,420,829
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MIR125A
microRNA mir-125a
ISO
RNA:decreased expression:liver
RGD
PMID:31988048
RGD:21403676
NCBI chr 6:58,331,566...58,331,645
Ensembl chr 6:58,331,566...58,331,645
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MIR130A
microRNA mir-130a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28242765
NCBI chr 2:13,296,695...13,296,773
Ensembl chr 2:13,296,695...13,296,773
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MIR155
microRNA mir-155
ISO
miRNA:decreased expression:serum
RGD
PMID:27856635 PMID:28970282 PMID:29479888
RGD:21079445 RGD:21079446 RGD:24922220
NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
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MIR184
microRNA mir-184
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23954404
NCBI chr 7:48,345,017...48,345,099
Ensembl chr 7:48,345,017...48,345,099
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MIR21
microRNA mir-21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23954404
NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
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MIR23A
microRNA mir-23a
ISO
associated with hepatocellular carcinoma;RNA:increased expression:exosome, liver:
RGD
PMID:31321740
RGD:155882550
NCBI chr 2:65,308,117...65,308,186
Ensembl chr 2:65,308,117...65,308,186
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MIR23B
microRNA mir-23b
ISO
associated with hepatocellular carcinoma;RNA:increased expression:exosome, liver:
RGD
PMID:31321740
RGD:155882550
NCBI chr10:27,080,197...27,080,276
Ensembl chr10:27,080,197...27,080,276
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MKKS
MKKS centrosomal shuttling protein
no_association
ISO
unlikely to play a major role in the pathogenesis of nonsyndromic obesity protein:substitution:A242S possible contribution OMIM:601665
RGD MouseDO
PMID:10973251 PMID:15483080
RGD:1581208 RGD:1601414
NCBI chr17:19,341,024...19,363,007
Ensembl chr17:19,341,636...19,362,871
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MMP19
matrix metallopeptidase 19
ISO
mRNA:increased expression:adipose tissue
RGD
PMID:12529376 PMID:15169894
RGD:1642022 RGD:1642023
NCBI chr 5:21,279,514...21,285,943
Ensembl chr 5:21,280,130...21,285,774
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MMP9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
CTD RGD
PMID:17512313 PMID:21156398
RGD:1642026
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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MMUT
methylmalonyl-CoA mutase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,246...43,624,671
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MRC1
mannose receptor C-type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr10:44,107,926...44,226,734
Ensembl chr10:44,107,072...44,226,733
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MT-CYB
mitochondrially encoded cytochrome b
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:12905068 PMID:25741868
NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:missense mutation: :p.A64V (human)
RGD
PMID:16060290
RGD:2300401
NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
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MT3
metallothionein 3
ISO
RGD
PMID:21726645
RGD:6480475
NCBI chr 6:18,634,735...18,636,134
Ensembl chr 6:18,634,261...18,636,131
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MTCH2
mitochondrial carrier 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19079261
NCBI chr 2:14,982,991...15,005,214
Ensembl chr 2:14,983,154...15,005,213
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MTOR
mechanistic target of rapamycin kinase
ISO
mRNA, protein:decreased expression:hypothalamus
RGD
PMID:25807795
RGD:11570513
NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
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MTTP
microsomal triglyceride transfer protein
susceptibility
ISO
DNA:polymorphisms
RGD
PMID:15635487
RGD:1625486
NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,820,656...120,879,388
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
mRNA:decreased expression:pancreas (rat)
RGD
PMID:22421529
RGD:7240547
NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078
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MYH10
myosin heavy chain 10
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:25741868
NCBI chr12:53,647,579...53,781,552
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MYH9
myosin heavy chain 9
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:25741868 PMID:31064749
NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
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MYOD1
myogenic differentiation 1
ISO
mRNA:decreased expression:plantaris
RGD
PMID:18508911 PMID:22349736
RGD:2313320 RGD:9686079
NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,775...41,424,435
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MYOG
myogenin
ISO
mRNA:decreased expression:plantaris
RGD
PMID:18508911
RGD:2313320
NCBI chr 9:113,783,233...113,785,312
Ensembl chr 9:113,782,284...113,787,340
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NAMPT
nicotinamide phosphoribosyltransferase
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum
CTD RGD
PMID:17618961 PMID:23834033
RGD:1642336
NCBI chr 9:106,119,896...106,162,126
Ensembl chr 9:106,119,899...106,294,586
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NCF2
neutrophil cytosolic factor 2
ISO
protein:increased expression:artery
RGD
PMID:17515452
RGD:2314435
NCBI chr 9:124,776,516...124,813,358
Ensembl chr 9:124,776,534...124,812,923
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NCOA1
nuclear receptor coactivator 1
ISO
OMIM:601665
MouseDO
NCBI chr 3:113,997,214...114,251,080
Ensembl chr 3:113,999,253...114,250,298
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NCOA3
nuclear receptor coactivator 3
ISO
DNA:polymorphism:CDS:C-terminus polyglutamine repeat, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 Progesterone Receptor genotype associated with obesity in 301 postmenopausal women with breast cancer
RGD
PMID:14557830
RGD:1642050
NCBI chr17:49,528,275...49,660,471
Ensembl chr17:49,528,179...49,663,200
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NDUFB6
NADH:ubiquinone oxidoreductase subunit B6
ISO
mRNA:decreased expression:epididymal fat pad
RGD
PMID:20559011
RGD:13822707
NCBI chr10:33,849,206...33,865,080
Ensembl chr10:33,802,051...33,865,385
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NEGR1
neuronal growth regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19079261
NCBI chr 6:140,780,397...141,652,414
Ensembl chr 6:140,780,723...141,647,820
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NEIL1
nei like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism OMIM:601665
CTD MouseDO
PMID:16446448 PMID:21285402
NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,769...58,268,522
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NEUROD1
neuronal differentiation 1
ISO
mRNA:increased expression:pancreas
RGD
PMID:15979049
RGD:1625044
NCBI chr15:87,175,629...87,179,953
Ensembl chr15:87,175,765...87,179,959
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO
protein:decreased expression:hepatocyte: protein:decreased expression:liver macrophage:
RGD
PMID:32102936
RGD:21201281
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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NHLH2
nescient helix-loop-helix 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20808804
NCBI chr 4:104,852,287...104,858,042
Ensembl chr 4:104,857,635...104,858,042
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NMB
neuromedin B
susceptibility
ISO
protein:increased expression:central hypothalamus:concentrations higher in obese (fa/fa) than in lean (Fa/?) male Zucker rats, not affected by weight loss DNA:polymorphism:CDS:401G>A, silent mutation in stop codon, associated with body weight (p=0.02) DNA:polymorphism:CDS:217C>A, amino acid P73T, associated with disinhibition toward food (p=0.03), susceptibility to hunger (p=0.01) and increased percent body fat (p<0.05)
RGD
PMID:1709601 PMID:11194934 PMID:15585758
RGD:1642059 RGD:1642062 RGD:1642063
NCBI chr 7:52,880,817...52,886,651
Ensembl chr 7:52,883,128...52,886,642
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NMU
neuromedin U
susceptibility
ISO
DNA:polymorphisms:cds:p.R165W,p.A19E
RGD
PMID:15448684 PMID:16984985 PMID:17706946
RGD:1642093 RGD:1642094 RGD:1642095
NCBI chr 8:54,952,333...54,978,577
Ensembl chr 8:54,952,339...54,978,551
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NNT
nicotinamide nucleotide transhydrogenase
ISO
protein:decreased expression:gastrocnemius, soleus
RGD
PMID:25761734
RGD:13513980
NCBI chr16:28,157,192...28,248,732
Ensembl chr16:28,157,318...28,250,961
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NOS1
nitric oxide synthase 1
ISO
RGD
PMID:16316351
RGD:1642132
NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944
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NOS2
nitric oxide synthase 2
ISO
protein:increased expression:sputum protein:increased expression:liver, gastrocnemius muscle, adipose tissue (mouse)
RGD
PMID:18098375 PMID:21896669
RGD:4891935 RGD:5509059
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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NOS3
nitric oxide synthase 3
treatment
ISO
protein:decreased expression:artery
RGD
PMID:17623751 PMID:29180887
RGD:13504728 RGD:2292133
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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NOX4
NADPH oxidase 4
treatment
ISO
RGD
PMID:30298849
RGD:401960083
NCBI chr 9:22,622,105...22,776,691
Ensembl chr 9:22,624,212...22,776,534
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NPC1
NPC intracellular cholesterol transporter 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19151714
NCBI chr 6:108,403,126...108,450,486
Ensembl chr 6:108,402,879...108,450,990
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NPPA
natriuretic peptide A
ISO
associated with Heart Failure;
RGD
PMID:23566312
RGD:7247714
NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405
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NPPB
natriuretic peptide 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:329955450 RGD:5685647 RGD:7327171
NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254
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NPY
neuropeptide Y
ISO
mRNA, protein:increased expression:hypothalamus
RGD
PMID:17447163
RGD:10448938
NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667
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NPY1R
neuropeptide Y receptor Y1
susceptibility
ISO
associated with Hyperinsulinemia mRNA:increased expression:hypothalamus CTD Direct Evidence: marker/mechanism OMIM:601665
RGD CTD MouseDO
PMID:9861026 PMID:17447163 PMID:20975297
RGD:10448938 RGD:1642306
NCBI chr 8:52,152,649...52,163,080
Ensembl chr 8:52,152,646...52,162,328
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NPY2R
neuropeptide Y receptor Y2
ISO
mRNA:increased expression:hypothalamus DNA:SNP:promoter:−4448C>A, NCBI refSNP ID=rs12649641; Danish white subjects
RGD
PMID:17019604 PMID:17447163
RGD:10448938 RGD:1642379
NCBI chr 8:74,039,959...74,048,398
Ensembl chr 8:74,039,616...74,047,817
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NPY5R
neuropeptide Y receptor Y5
susceptibility
ISO
mRNA:increased expression:hypothalamus CTD Direct Evidence: marker/mechanism DNA:polymorphisms DNA:SNP:utr (Y5R1c52) (human)
RGD CTD
PMID:10849579 PMID:17447163 PMID:23900445
RGD:10448938 RGD:1625493 RGD:405650675
NCBI chr 8:52,173,906...52,183,336
Ensembl chr 8:52,174,434...52,183,341
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NQO1
NAD(P)H quinone dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17405841
NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590
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NR0B2
nuclear receptor subfamily 0 group B member 2
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
OMIM ClinVar
PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510
NCBI chr 6:84,225,670...84,228,156
Ensembl chr 6:84,225,694...84,228,481
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NR1H2
nuclear receptor subfamily 1 group H member 2
disease_progression
ISO
mRNA:increased expression:liver (rat) DNA:polymorphism:multiple
RGD
PMID:17108812 PMID:20939869 PMID:25612518
RGD:13506790 RGD:15045599 RGD:1626248
NCBI chr 6:55,238,536...55,245,457
Ensembl chr 6:55,239,500...55,245,456
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NR1H3
nuclear receptor subfamily 1 group H member 3
disease_progression
ISO
DNA:polymorphism:multiple mRNA:increased expression:liver (rat)
RGD
PMID:17108812 PMID:25612518
RGD:15045599 RGD:1626248
NCBI chr 2:15,315,283...15,336,785
Ensembl chr 2:15,315,282...15,334,820
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NR1H4
nuclear receptor subfamily 1 group H member 4
disease_progression
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:25612518
RGD:15045599
NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,294...83,684,604
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NR1I2
nuclear receptor subfamily 1 group I member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr13:140,373,571...140,406,129
Ensembl chr13:140,364,075...140,406,112
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NR1I3
nuclear receptor subfamily 1 group I member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr 4:89,226,314...89,231,781
Ensembl chr 4:89,226,690...89,236,431
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NR3C1
nuclear receptor subfamily 3 group C member 1
no_association
ISO
associated with Depressive Disorder, Major;DNA:SNP:intron:IVS2+646C>G (human) protein:polymorphism:N363S
RGD
PMID:16725041 PMID:18246526 PMID:20723946
RGD:1601498 RGD:4892206 RGD:7174717
NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
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NR3C2
nuclear receptor subfamily 3 group C member 2
treatment
ISO
RGD
PMID:30298849
RGD:401960083
NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412
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NRF1
nuclear respiratory factor 1
treatment
ISO
mRNA:decreased expression:left ventricle myocardium (rat)
RGD
PMID:33310031
RGD:329955450
NCBI chr18:19,008,408...19,142,678
Ensembl chr18:18,998,930...19,142,628
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NRXN1
neurexin 1
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:25741868
NCBI chr 3:89,799,426...90,914,205
Ensembl chr 3:89,803,519...90,382,034
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NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882
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NUCB2
nucleobindin 2
ISO
protein:increased expression:adipose tissue:
RGD
PMID:22641054
RGD:9831187
NCBI chr 2:41,782,594...41,829,829
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NUDC
nuclear distribution C, dynein complex regulator
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 6:84,238,695...84,252,046
Ensembl chr 6:84,238,430...84,252,046
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OGG1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29709520
NCBI chr13:66,038,669...66,045,478
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OPRM1
opioid receptor mu 1
treatment
ISO
DNA, mRNA:hypermethylation, increased expression:promoter, hypothalamus DNA:hypermethylation:promoter, peripheral blood mononuclear cell
RGD
PMID:16876155 PMID:31258545
RGD:401827956 RGD:401842391
NCBI chr 1:12,634,125...12,702,295
Ensembl chr 1:12,528,672...12,702,443
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OTC
ornithine transcarbamylase
ISO
protein:increased activity:liver (rat)
RGD
PMID:1330956
RGD:4144087
NCBI chr X:34,322,398...34,391,711
Ensembl chr X:34,322,298...34,391,821
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OXCT1
3-oxoacid CoA-transferase 1
ISO
mRNA:decreased expression:thalamus (rat)
RGD
PMID:19219059
RGD:2326191
NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,401...26,659,808
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PACS1
phosphofurin acidic cluster sorting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23563609
NCBI chr 2:6,138,345...6,277,309
Ensembl chr 2:6,138,351...6,174,632
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PARP1
poly(ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20561897
NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196
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PCK1
phosphoenolpyruvate carboxykinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr17:57,930,507...57,936,523
Ensembl chr17:57,930,432...57,936,522
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PCSK1
proprotein convertase subtilisin/kexin type 1
ISO
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:103,004,794...103,050,707
Ensembl chr 2:103,004,794...103,050,839
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PCSK1N
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
protein:increased expression:brainstem
RGD
PMID:11680901 PMID:15012590
RGD:1642350 RGD:1642351
NCBI chr X:42,947,688...42,952,222
Ensembl chr X:42,947,692...42,949,024
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PDE3A
phosphodiesterase 3A
ISO
mRNA:decreased expression:heart
RGD
PMID:9648839
RGD:2300415
NCBI chr 5:52,413,503...52,737,771
Ensembl chr 5:52,409,882...52,738,406
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PDE9A
phosphodiesterase 9A
treatment
ISO
RGD
PMID:34618683
RGD:242170038
NCBI chr13:205,938,342...206,034,981
Ensembl chr13:205,938,348...206,034,976
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PDP1
pyruvate dehydrogenase phosphatase catalytic subunit 1
ISO
protein:decreased activity:circulating lymphocytes
RGD
PMID:15897476
RGD:1642637
NCBI chr 4:42,769,232...42,777,936
Ensembl chr 4:42,764,441...42,777,904
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PDX1
pancreatic and duodenal homeobox 1
ISO
mRNA:increased expression:exocrine pancreas (human)
RGD
PMID:15979049
RGD:1625044
NCBI chr11:5,303,609...5,309,063
Ensembl chr11:5,303,609...5,309,063
G
PEX11A
peroxisomal biogenesis factor 11 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30585412
NCBI chr 7:55,256,239...55,264,253
Ensembl chr 7:55,256,220...55,264,247
G
PFKFB3
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr10:64,776,315...64,859,118
Ensembl chr10:64,776,315...64,802,287
G
PGF
placental growth factor
ISO
associated with pancreatic cancer;protein:increased expression:plasma (human) associated with Pre-eclampsia;protein:increased expression:serum
RGD
PMID:16020476 PMID:16769024 PMID:26861455
RGD:14349030 RGD:1642384 RGD:1642385
NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
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PGR
progesterone receptor
ISO
DNA:polymorphism:CDS:PROGINS polymorphism, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 PGR PROGINS genotype associated with obesity in 301 postmenopausal women with breast cancer
RGD
PMID:14557830
RGD:1642050
NCBI chr 9:32,035,684...32,129,776
Ensembl chr 9:32,035,684...32,129,221
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:21949398
RGD:6482700
NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
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PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
ISO
protein:decreased expression:soleus protein:decreased tyrosine phosphorylation:skeletal muscle, liver
RGD
PMID:9399964 PMID:16123202
RGD:1625218 RGD:1625220
NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609
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PKLR
pyruvate kinase L/R
ISO
mRNA, protein:decreased expression:liver
RGD
PMID:12958186
RGD:1625583
NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,537,019...94,546,555
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PLAT
plasminogen activator, tissue type
ISO
RGD
PMID:12818410
RGD:2311677
NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
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PLAUR
plasminogen activator, urokinase receptor
ISO
RGD
PMID:21372607
RGD:6484121
NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
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PLIN1
perilipin 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:snp:intron:g.11482G>A (human)
CTD RGD
PMID:11371650 PMID:15001633 PMID:15985482
RGD:1581041 RGD:737723
NCBI chr 7:55,237,517...55,250,797
Ensembl chr 7:55,236,348...55,250,797
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PLSCR3
phospholipid scramblase 3
ISO
OMIM:601665
MouseDO
NCBI chr12:52,719,060...52,724,570
Ensembl chr12:52,719,064...52,724,982
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PMCH
pro-melanin concentrating hormone
ISO
CTD Direct Evidence: marker/mechanism associated with Hyperphagia associated with Hyperphagia;protein:increased expression:hypothalamus
CTD RGD
PMID:12355323 PMID:12453827 PMID:15363890
RGD:1624360 RGD:1642486
NCBI chr 5:82,018,915...82,020,267
Ensembl chr 5:82,018,915...82,020,266
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PNLIP
pancreatic lipase
susceptibility
ISO
RGD
PMID:15883013
RGD:1358859
NCBI chr14:126,771,920...126,789,097
Ensembl chr14:126,772,911...126,790,001
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PNPLA3
patatin like phospholipase domain containing 3
ISO
RGD
PMID:11431482
RGD:14985224
NCBI chr 5:5,075,608...5,092,599
Ensembl chr 5:5,075,622...5,092,515
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POGZ
pogo transposable element derived with ZNF domain
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
NCBI chr 4:97,776,579...97,833,287
Ensembl chr 4:97,776,589...97,833,282
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POMC
proopiomelanocortin
ISO
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 disorder
ClinVar OMIM
PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 PMID:12165561 PMID:14557433 PMID:16459314 PMID:18091355 PMID:18697863 PMID:19221669 PMID:20349035 PMID:23293326 PMID:23649472 PMID:25741868 PMID:27906547 PMID:28492532 PMID:29970488 PMID:35574020 More...
NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418
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PON2
paraoxonase 2
ISO
protein:increased expression:white adipose tissue
RGD
PMID:21365757
RGD:8661255
NCBI chr 9:75,027,270...75,051,441
Ensembl chr 9:75,027,097...75,051,422
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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 chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239
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PPARD
peroxisome proliferator activated receptor delta
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16168052 PMID:20176998
NCBI chr 7:31,222,533...31,295,221
Ensembl chr 7:31,222,585...31,295,211
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PPARG
peroxisome proliferator activated receptor gamma
susceptibility treatment
ISO
DNA:polymorphism ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency 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 disorder
OMIM RGD ClinVar
PMID:9467001 PMID:9792554 PMID:10381354 PMID:10523018 PMID:10622252 PMID:10690291 PMID:10851250 PMID:14569127 PMID:14616762 PMID:14671186 PMID:15254591 PMID:18683148 PMID:22461176 PMID:25157153 PMID:25741868 PMID:28492532 PMID:30298849 More...
RGD:2301847 RGD:401960083
NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
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PPARGC1A
PPARG coactivator 1 alpha
treatment
ISO
mRNA:increased expression:retroperitoneal fat pad (rat) mRNA:decreased expression:left ventricle myocardium (rat)
RGD
PMID:22401878 PMID:23180161 PMID:23256146 PMID:33310031
RGD:329955450 RGD:7241848 RGD:7242011 RGD:7242183
NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
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PPARGC1B
PPARG coactivator 1 beta
resistance
ISO
DNA:polymorphism: :p.A203P ClinVar Annotator: match by term: Obesity, variation in
RGD ClinVar
PMID:15863669
RGD:1642501
NCBI chr 2:150,823,338...150,924,871
Ensembl chr 2:150,823,373...150,919,376
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PPIA
peptidylprolyl isomerase A
ISO
mRNA:increased expression:blood (human)
RGD
PMID:32496587
RGD:150383342
NCBI chr18:50,563,130...50,566,857
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PPM1L
protein phosphatase, Mg2+/Mn2+ dependent 1L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18344982
NCBI chr13:100,442,445...100,759,968
Ensembl chr13:100,443,011...100,756,039
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PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29367455
NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,373
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PRKAR2B
protein kinase cAMP-dependent type II regulatory subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20975297
NCBI chr 9:106,851,044...106,957,519
Ensembl chr 9:106,851,031...106,957,510
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PRKCB
protein kinase C beta
ISO
mRNA, protein:increased expression:mononuclear cell
RGD
PMID:17180352
RGD:1625512
NCBI chr 3:21,995,227...22,383,628
Ensembl chr 3:21,995,231...22,383,264
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PRKCD
protein kinase C delta
ISO
protein:decreased expression:heart ventricle
RGD
PMID:11478406
RGD:1642533
NCBI chr13:35,290,835...35,323,245
Ensembl chr13:35,290,610...35,323,356
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PRKCH
protein kinase C eta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23563609
NCBI chr 1:190,205,041...190,439,433
Ensembl chr 1:190,206,124...190,439,426
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PRKCI
protein kinase C iota
ISO
OMIM:601665
MouseDO
NCBI chr13:108,913,018...108,997,934
Ensembl chr13:108,913,173...108,997,931
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PRKG1
protein kinase cGMP-dependent 1
ISO
protein:increased expression:kidney, glomerulus
RGD
PMID:23454089
RGD:7777114
NCBI chr14:97,558,531...98,793,080
Ensembl chr14:97,558,533...98,793,010
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PRL
prolactin
ISO
RGD
PMID:8388614
RGD:1642559
NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
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PRLH
prolactin releasing hormone
ISO
OMIM:601665
RGD MouseDO
PMID:15854142
RGD:1641829
NCBI chr15:137,230,209...137,232,178
Ensembl chr15:137,230,247...137,230,954
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PRLHR
prolactin releasing hormone receptor
ISO
RGD
PMID:15854142
RGD:1641829
NCBI chr14:128,617,352...128,619,419
Ensembl chr14:128,614,131...128,619,457
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PRMT7
protein arginine methyltransferase 7
ISO
ClinVar Annotator: match by term: Obesity disorder
ClinVar
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392
NCBI chr 6:28,883,148...28,945,904
Ensembl chr 6:28,883,646...28,945,905
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PROX1
prospero homeobox 1
ISO
OMIM:601665
MouseDO
NCBI chr 9:129,527,704...129,583,693
Ensembl chr 9:129,532,184...129,580,982
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:liver
CTD RGD
PMID:21156398 PMID:21978752
RGD:5508307
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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PTPN1
protein tyrosine phosphatase non-receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10744717 PMID:20075852
NCBI chr17:52,017,100...52,086,747
Ensembl chr17:52,017,130...52,086,736
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PTPRF
protein tyrosine phosphatase receptor type F
ISO
protein:increased expression, increased activity:subcutaneous adipose tissue:2.03-fold higher activity in obese than lean individuals (P < 0.001) protein:increased expression:skeletal muscle:increased 42% in insulin-resistant obese (fa/fa) and 50% in diabetic (ZDF/Drt-fa/fa) Zucker rats (P<0.05) protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05)
RGD
PMID:7666792 PMID:7769120 PMID:9218523
RGD:1642727 RGD:1642732 RGD:1642733
NCBI chr 6:167,656,674...167,743,750
Ensembl chr 6:167,657,680...167,743,721
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PYY
peptide YY
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:10898754 PMID:11825645 PMID:16368708
NCBI chr12:19,190,703...19,208,373
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RAI1
retinoic acid induced 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15459175 PMID:19116176
NCBI chr12:60,751,159...60,854,710
Ensembl chr12:60,755,521...60,766,058
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RAPGEF3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr 5:78,101,286...78,134,150
Ensembl chr 5:78,101,299...78,134,105
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RARRES2
retinoic acid receptor responder 2
ISO
protein:increased expression:serum:
RGD
PMID:30873215 PMID:31284705
RGD:15036824 RGD:15036825
NCBI chr18:55,903,693...55,906,976
Ensembl chr18:55,903,699...55,906,945
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RB1
RB transcriptional corepressor 1
ISO
mRNA:decreased expression:adipose tissue
RGD
PMID:23315497
RGD:8547988
NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690
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RBP4
retinol binding protein 4
disease_progression ameliorates
ISO
mRNA, protein:decreased expression:adipose tissue, serum protein:increased expression:blood serum (human)
RGD
PMID:17292720 PMID:18401839 PMID:21585349
RGD:2302016 RGD:329845862 RGD:329853312
NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
RGD
PMID:18356846
RGD:2298856
NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
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REN
renin
ISO
mRNA:increased expression:abdomen, subcutaneous adipose tissue, mesenchymal stem cell (human)
RGD
PMID:22648117
RGD:6784503
NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658
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RETN
resistin
ISO
mRNA, protein:increased expression:subcutaneous adipose tissue, serum DNA:SNP:promoter:-420C>G (human)
RGD
PMID:11201732 PMID:17598818 PMID:22816026
RGD:7207072 RGD:7207155 RGD:7207158
NCBI chr 2:71,484,164...71,485,577
Ensembl chr 2:71,484,169...71,485,616
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RHOA
ras homolog family member A
ISO
protein:increased expression:membrane, aorta, skeletal muscle
RGD
PMID:16267124
RGD:2298881
NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607
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RPS6KB1
ribosomal protein S6 kinase B1
ISO
protein:increased phosphorylation:skeletal muscle
RGD
PMID:15604215
RGD:1642978
NCBI chr12:36,111,584...36,159,287
Ensembl chr12:36,111,653...36,160,376
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RSC1A1
regulator of solute carriers 1
ISO
OMIM:601665
MouseDO
NCBI chr 1:268,428,423...268,429,766 NCBI chr 6:74,846,976...74,865,376
Ensembl chr 6:74,809,350...74,855,423
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RSRC2
arginine and serine rich coiled-coil 2
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
NCBI chr14:30,242,063...30,261,166
Ensembl chr14:30,242,142...30,261,600
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RXRA
retinoid X receptor alpha
susceptibility
ISO
RGD
PMID:15936932
RGD:1643104
NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,505...273,797,620
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RYR1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Obesity disorder
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
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SAT1
spermidine/spermine N1-acetyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr X:19,908,037...19,910,553
Ensembl chr X:19,907,906...19,910,974
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SCAPER
S-phase cyclin A associated protein in the ER
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:25741868 PMID:30723319
NCBI chr 7:56,583,247...57,012,312
Ensembl chr 7:56,583,160...57,011,914
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SDC1
syndecan 1
ISO
mRNA:increased expression:liver
RGD
PMID:11522680
RGD:1643129
NCBI chr 3:117,987,585...118,011,886
Ensembl chr 3:117,987,557...118,011,884
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SDC3
syndecan 3
ISO
ClinVar Annotator: match by term: Obesity, association with
OMIM ClinVar
PMID:17018662
NCBI chr 6:87,495,041...87,535,689
Ensembl chr 6:87,495,045...87,507,235
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SELP
selectin P
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:altered localization:platelet
RGD
PMID:19228864
RGD:2312291
NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955
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SERPINE1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23819014
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
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SERPINF1
serpin family F member 1
ISO
protein:increased expression:serum (rat)
RGD
PMID:17491674 PMID:24424059
RGD:2312347 RGD:8633067
NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470
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SFTPA1
surfactant protein A1
ISO
protein:increased expression:lung
RGD
PMID:15136884
RGD:4143472
NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
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SFTPB
surfactant protein B
ISO
protein:increased expression:lung
RGD
PMID:15136884
RGD:4143472
NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396
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SH2B1
SH2B adaptor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19079261
NCBI chr 3:18,533,282...18,543,133
Ensembl chr 3:18,524,820...18,543,135
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SIM1
SIM bHLH transcription factor 1
ISO
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
ClinVar
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:30926952 PMID:30991789 PMID:33434169 More...
NCBI chr 1:67,213,685...67,294,455
Ensembl chr 1:67,214,337...67,294,397
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SIRT1
sirtuin 1
treatment
ISO
protein:decreased expression:ovary CTD Direct Evidence: therapeutic
RGD CTD
PMID:24135502 PMID:24184811 PMID:24773342
RGD:9585762 RGD:9586064
NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297
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SIRT3
sirtuin 3
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21901160 PMID:23956348
RGD:9586047
NCBI chr 2:38,465...55,074
Ensembl chr 2:38,464...55,101
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SIRT6
sirtuin 6
ISO
protein:decreased expression:ovary
RGD
PMID:24135502
RGD:9586064
NCBI chr 2:74,568,539...74,577,774
Ensembl chr 2:74,568,493...74,577,772
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SLC10A1
solute carrier family 10 member 1
disease_progression
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:25612518
RGD:15045599
NCBI chr 7:93,400,037...93,421,989
Ensembl chr 7:93,397,608...93,421,985
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SLC16A7
solute carrier family 16 member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 5:24,713,009...24,871,891
Ensembl chr 5:24,713,267...24,875,003
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SLC22A1
solute carrier family 22 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20956498
NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,126...7,365,520
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SLC22A2
solute carrier family 22 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27401566
NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146
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SLC22A3
solute carrier family 22 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27401566
NCBI chr 1:7,105,486...7,207,395
Ensembl chr 1:7,110,074...7,207,401
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SLC27A1
solute carrier family 27 member 1
susceptibility
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:1642790 RGD:1642794
NCBI chr 2:60,203,374...60,235,689
Ensembl chr 2:60,203,388...60,235,588
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SLC27A4
solute carrier family 27 member 4
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:15168018
RGD:1625638
NCBI chr 1:268,773,792...268,788,208
Ensembl chr 1:268,773,806...268,788,731
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SLC2A1
solute carrier family 2 member 1
treatment
ISO
associated with Polycystic Ovary Syndrome
RGD
PMID:24842895
RGD:12879503
NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867
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SLC32A1
solute carrier family 32 member 1
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:25741868
NCBI chr17:41,689,479...41,694,560
Ensembl chr17:41,689,479...41,694,553
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SLC6A1
solute carrier family 6 member 1
ISO
RGD
PMID:11191352
RGD:1643191
NCBI chr13:67,156,786...67,199,092
Ensembl chr13:67,179,765...67,197,107
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SLC6A14
solute carrier family 6 member 14
susceptibility
ISO
DNA:SNPs
RGD
PMID:15331564
RGD:1625271
NCBI chr X:95,482,494...95,507,200
Ensembl chr X:95,482,456...95,527,369
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SLC6A3
solute carrier family 6 member 3
susceptibility no_association
ISO
DNA:polymorphism
RGD
PMID:12490667 PMID:16674552
RGD:1625653 RGD:1625655
NCBI chr16:79,186,114...79,220,302
Ensembl chr16:79,186,108...79,220,297
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SLC9A3
solute carrier family 9 member A3
ISO
protein:decreased expression:kidney cortex
RGD
PMID:16757903
RGD:1625672
NCBI chr16:79,625,555...79,704,084
Ensembl chr16:79,666,825...79,700,658
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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
NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295
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SNAP25
synaptosome associated protein 25
ISO
OMIM:601665
MouseDO
NCBI chr17:19,096,115...19,227,580
Ensembl chr17:19,141,464...19,227,576
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SOCS1
suppressor of cytokine signaling 1
ISO
mRNA, protein:increased expression:white fat
RGD
PMID:11027633
RGD:2298920
NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967
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SOCS3
suppressor of cytokine signaling 3
ISO
mRNA:decreased expression:subcutaneous adipose tissue mRNA:altered expression:skeletal muscle, subcutaneous adipose tissue mRNA, protein:increased expression:white fat DNA:SNP:utr (rs4969170) (human)
RGD
PMID:11027633 PMID:15331532 PMID:16920065 PMID:23900445
RGD:1625676 RGD:2298920 RGD:2313790 RGD:405650675
NCBI chr12:3,643,832...3,647,015
Ensembl chr12:3,643,929...3,647,009
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SOD1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24042701
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
G
SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16317704 PMID:23956348 PMID:30738174
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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SORBS1
sorbin and SH3 domain containing 1
ISO
DNA:SNP: :p.T228A (human)
RGD
PMID:11532984
RGD:1642744
NCBI chr14:106,895,764...107,137,469
Ensembl chr14:106,895,765...107,137,561
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SPARC
secreted protein acidic and cysteine rich
ISO
mRNA:increased expression:adipose tissue
RGD
PMID:11294850
RGD:2300062
NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161
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SQLE
squalene epoxidase
ISO
RGD
PMID:15556298
RGD:1581399
NCBI chr 4:14,669,789...14,700,152
Ensembl chr 4:14,669,791...14,700,126
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SRD5A1
steroid 5 alpha-reductase 1
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:20098742
RGD:4891511
NCBI chr16:75,309,830...75,335,438
Ensembl chr16:75,310,211...75,335,391
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SREBF1
sterol regulatory element binding transcription factor 1
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:25741868
NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,267
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SREBF2
sterol regulatory element binding transcription factor 2
ISO
protein:increased expression:fat cell, nucleus
RGD
PMID:9786926
RGD:2308843
NCBI chr 5:6,719,484...6,784,724
Ensembl chr 5:6,719,490...6,784,671
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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 chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
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STAT4
signal transducer and activator of transcription 4
treatment
ISO
RGD
PMID:20978234
RGD:5509594
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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STK11
serine/threonine kinase 11
ISO
protein:decreased expression:gastrocnemius
RGD
PMID:16352671
RGD:1601389
NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
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STS
steroid sulfatase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24497646
NCBI chr X:3,926,027...4,076,900 NCBI chr Y:2,747,102...2,828,322
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SUCLA2
succinate-CoA ligase ADP-forming subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr11:19,616,415...19,670,667
Ensembl chr11:19,616,495...19,670,662
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SUCLG2
succinate-CoA ligase GDP-forming subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr13:48,650,851...49,090,521
Ensembl chr13:48,823,733...49,090,468
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SZT2
SZT2 subunit of KICSTOR complex
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
PMID:25741868
NCBI chr 6:167,811,589...167,861,321
Ensembl chr 6:167,811,598...167,861,583
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TBC1D1
TBC1 domain family member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16893906 PMID:18325908 PMID:18931681
NCBI chr 8:29,370,344...29,590,574
Ensembl chr 8:29,370,481...29,590,571
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TBX3
T-box transcription factor 3
ISO
ClinVar Annotator: match by term: Obesity disorder
ClinVar
PMID:28492532
NCBI chr14:37,582,704...37,596,767
Ensembl chr14:37,582,822...37,596,766
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TBXA2R
thromboxane A2 receptor
ISO
mRNA:increased expression:carotid artery
RGD
PMID:12409963
RGD:1601447
NCBI chr 2:75,068,413...75,081,305
Ensembl chr 2:75,068,698...75,087,731
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TF
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16267817 PMID:20882379
RGD:1601520
NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763
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TFAM
transcription factor A, mitochondrial
treatment
ISO
mRNA:decreased expression:left ventricle myocardium (rat)
RGD
PMID:21862610 PMID:33310031
RGD:329955450 RGD:5683906
NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731
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TFRC
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17062801 PMID:20882379
NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276
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TGFB1
transforming growth factor beta 1
severity
ISO
protein:increased expression:adipose tissue associated with hypertension;protein:increased expression:blood protein:increased expression:platelet
RGD
PMID:15944724 PMID:16253647 PMID:16477387
RGD:1601561 RGD:1601563 RGD:1601579
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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TH
tyrosine hydroxylase
resistance
ISO
DNA:polymorphism:intron:g.1170_1173dupTCAT (human)
RGD
PMID:16251897
RGD:1601632
NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170
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THBD
thrombomodulin
severity
ISO
protein:increased expression:plasma
RGD
PMID:16651309
RGD:1601640
NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
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THBS1
thrombospondin 1
ISO
mRNA,protein:increased expression:mononuclear cell, adipose tissue:
RGD
PMID:24086512
RGD:9681453
NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,784...131,746,115
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TIMP1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:plasma
RGD
PMID:17512313
RGD:1642026
NCBI chr X:42,103,251...42,106,289
Ensembl chr X:42,102,172...42,106,296
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TLR2
toll like receptor 2
ISO
RGD
PMID:18787058
RGD:2312681
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR4
toll like receptor 4
susceptibility
ISO
RGD
PMID:17053832 PMID:19144836
RGD:1620653 RGD:2312510
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TMEM18
transmembrane protein 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19079261
NCBI chr 3:132,424,108...132,431,682
Ensembl chr 3:132,426,431...132,431,678
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TMEM19
transmembrane protein 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr 5:35,757,273...35,788,754
Ensembl chr 5:35,757,494...35,787,654
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TNF
tumor necrosis factor
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9502777 PMID:11328671 PMID:20141834 PMID:24146106 PMID:28843383 PMID:29035695 More...
RGD:10450599 RGD:14975146
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum
RGD
PMID:12935365
RGD:1624179
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11782876
NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
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TRPV1
transient receptor potential cation channel subfamily V member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17347480
NCBI chr12:49,676,536...49,709,634
Ensembl chr12:49,677,291...49,713,977
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TSC1
TSC complex subunit 1
ISO
DNA:hypermethylation:promoter
RGD
PMID:25807795
RGD:11570513
NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951
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TUB
TUB bipartite transcription factor
no_association susceptibility
ISO
DNA:splice-site mutation OMIM:601665
RGD MouseDO
PMID:8612280 PMID:8772727
RGD:1625564 RGD:1625565
NCBI chr 9:1,183,821...1,260,209
Ensembl chr 9:1,183,822...1,206,274
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TYK2
tyrosine kinase 2
ISO
OMIM:601665
MouseDO
NCBI chr 2:69,157,774...69,183,555
Ensembl chr 2:69,157,811...69,183,456
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UCN
urocortin
treatment
ISO
RGD
PMID:17932219
RGD:1642774
NCBI chr 3:111,834,082...111,835,932
Ensembl chr 3:111,835,125...111,835,508
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UCP1
uncoupling protein 1
no_association
ISO
CTD Direct Evidence: marker/mechanism|therapeutic DNA:polymorphism: :-3826A>G (human)
CTD RGD
PMID:8968850 PMID:15592485
RGD:1624977
NCBI chr 8:86,522,028...86,526,162
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UCP2
uncoupling protein 2
susceptibility
ISO
DNA:SNPs, insertion/deletion, haplotypes:promoter, 3' utr:-2723T>A, -866G>A, *158_159ins45 (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human)
RGD CTD
PMID:11381268 PMID:17870627
RGD:2313512 RGD:737761
NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547
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UCP3
uncoupling protein 3
susceptibility no_association
ISO
DNA:polymorphism:promoter:-55C>T (human) DNA:polymorphism:exon (human) 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: UCP3 POLYMORPHISM G/A | ClinVar Annotator: match by term: UCP3-related condition ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity disorder | ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A | ClinVar Annotator: match by term: UCP3-related condition
OMIM RGD ClinVar
PMID:9700198 PMID:9769326 PMID:10431807 PMID:10480626 PMID:10618503 PMID:18249216 PMID:21544083 PMID:25741868 PMID:28492532 More...
RGD:2313506 RGD:2313526
NCBI chr 9:8,378,023...8,389,452
Ensembl chr 9:8,378,021...8,386,211
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ULK4
unc-51 like kinase 4
ISO
ClinVar Annotator: match by term: Obesity
ClinVar
NCBI chr13:25,207,890...25,751,465
Ensembl chr13:25,209,368...25,751,500
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UQCRC2
ubiquinol-cytochrome c reductase core protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20882379
NCBI chr 3:24,197,743...24,228,831
Ensembl chr 3:24,197,747...24,228,832
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VCAM1
vascular cell adhesion molecule 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:19260948
RGD:2312763
NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
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VGF
VGF nerve growth factor inducible
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12177191
NCBI chr 3:8,888,502...8,891,399
Ensembl chr 3:8,888,506...8,891,601
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VHL
von Hippel-Lindau tumor suppressor
ISO
associated with hepatocellular carcinoma;RNA:decreased expression:liver:
RGD
PMID:31321740
RGD:155882550
NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
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VLDLR
very low density lipoprotein receptor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11557677 PMID:20975297
RGD:1625568
NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,507...219,210,343
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VWF
von Willebrand factor
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
RGD
PMID:16631442 PMID:16739871
RGD:1625710 RGD:1625711
NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,517,555...64,655,938
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WNT10B
Wnt family member 10B
ISO
DNA:SNP:CDS:amino acid C256Y, mutant unable to activate WNT/beta-catenin signaling pathway
RGD
PMID:16477437 PMID:17578883
RGD:2300029 RGD:2326237
NCBI chr 5:14,997,377...15,013,928
Ensembl chr 5:14,997,381...15,003,567
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WNT3A
Wnt family member 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28242765
NCBI chr 2:51,153,978...51,203,678
Ensembl chr 2:51,153,970...51,202,176
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XDH
xanthine dehydrogenase
treatment
ISO
RGD
PMID:7616299
RGD:13210504
NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169
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ZBTB7B
zinc finger and BTB domain containing 7B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr 4:94,780,404...94,796,722
Ensembl chr 4:94,780,408...94,796,657
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ZC3H10
zinc finger CCCH-type containing 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31775033
NCBI chr 5:21,506,510...21,513,972
Ensembl chr 5:21,508,218...21,514,590
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ZFHX3
zinc finger homeobox 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr 6:15,693,987...15,941,301
Ensembl chr 6:15,698,199...15,863,270
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ZFR2
zinc finger RNA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr 2:74,845,912...74,899,121
Ensembl chr 2:74,845,921...74,900,054
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ZNF169
zinc finger protein 169
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr 3:43,503,225...43,561,299
Ensembl chr 3:43,504,685...43,558,908
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CD163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:31027316
RGD:127345132
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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CYP2R1
cytochrome P450 family 2 subfamily R member 1
ISO
DNA:SNP:CDS: rs12794714 (human)
RGD
PMID:34906413
RGD:401900724
NCBI chr 2:44,375,432...44,394,122
Ensembl chr 2:44,375,520...44,396,334
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HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15199296
NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
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CTF1
cardiotrophin 1
ISO
MouseDO
NCBI chr 3:17,539,927...17,545,250
Ensembl chr 3:17,539,941...17,544,396
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LEP
leptin
ISO
MouseDO
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
G
NEIL1
nei like DNA glycosylase 1
ISO
MouseDO
NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,769...58,268,522
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PPARA
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309680
NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239
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PPARG
peroxisome proliferator activated receptor gamma
ISO
MouseDO
NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
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PPARGC1A
PPARG coactivator 1 alpha
ISO
mRNA:increased expression:gastrocnemius muscle (rat)
RGD
PMID:23320128
RGD:7241841
NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
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PRKCI
protein kinase C iota
ISO
MouseDO
NCBI chr13:108,913,018...108,997,934
Ensembl chr13:108,913,173...108,997,931
G
SIRT3
sirtuin 3
ISO
MouseDO
NCBI chr 2:38,465...55,074
Ensembl chr 2:38,464...55,101
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SLC2A9
solute carrier family 2 member 9
ISO
MouseDO
NCBI chr 8:6,211,143...6,367,530
Ensembl chr 8:6,210,478...6,367,496
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ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ISO
protein:increased oxidation:cardiac muscle cell
RGD
PMID:23997093
RGD:13782087
NCBI chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,969
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147
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BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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FADD
Fas associated via death domain
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
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FAS
Fas cell surface death receptor
ISO
RGD
PMID:30172001
RGD:13792561
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
G
LEP
leptin
ISO
OMIM:605552
MouseDO
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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LPL
lipoprotein lipase
treatment
ISO
RGD
PMID:26996629
RGD:13794382
NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
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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...
NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,820,656...120,879,388
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TLR2
toll like receptor 2
susceptibility
ISO
RGD
PMID:19841034
RGD:15090861
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TP53INP1
tumor protein p53 inducible nuclear protein 1
ISO
OMIM:605552
MouseDO
NCBI chr 4:41,747,654...41,766,688
Ensembl chr 4:41,747,654...41,766,685
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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
NCBI chr 6:84,735,253...84,774,554
Ensembl chr 6:84,735,253...84,802,456
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DYRK1B
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: CENTRAL OBESITY, TYPE 2 DIABETES, HYPERTENSION, AND EARLY-ONSET CORONARY ARTERY DISEASE | ClinVar Annotator: match by term: DYRK1B-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:28492532 PMID:32041611 More...
NCBI chr 6:48,305,837...48,314,523
Ensembl chr 6:48,305,849...48,314,514
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PHF6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders
OMIM ClinVar
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...
NCBI chr X:110,249,010...110,311,503
Ensembl chr X:110,249,010...110,303,017
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AFF4
ALF transcription elongation factor 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...
NCBI chr 2:135,196,067...135,283,931
Ensembl chr 2:135,200,076...135,283,675
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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...
NCBI chr15:130,784,567...130,940,497
Ensembl chr15:130,787,864...130,939,783
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ANKRD46
ankyrin repeat domain 46
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:36,400,610...36,445,590
Ensembl chr 4:36,400,660...36,444,335
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ATP6V1C1
ATPase H+ transporting V1 subunit C1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:34,033,943...34,084,990
Ensembl chr 4:34,029,295...34,222,405
G
AZIN1
antizyme inhibitor 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:34,221,368...34,257,261
Ensembl chr 4:34,234,679...34,257,134
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BAALC
BAALC binder of MAP3K1 and KLF4
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:33,894,240...33,983,920
Ensembl chr 4:33,892,079...33,984,121
G
COX6C
COX6C protein
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:37,074,619...37,089,364
Ensembl chr 4:37,074,649...37,091,849
G
CTHRC1
collagen triple helix repeat containing 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:33,759,541...33,771,625
Ensembl chr 4:33,759,542...33,771,582
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DCAF13
DDB1 and CUL4 associated factor 13
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:33,672,867...33,704,888
Ensembl chr 4:33,672,871...33,704,573
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DCSTAMP
dendrocyte expressed seven transmembrane protein
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:32,912,320...32,928,323
Ensembl chr 4:32,913,152...32,928,235
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DPYS
dihydropyrimidinase
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:32,791,152...32,879,489
Ensembl chr 4:32,789,460...32,879,489
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FZD6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:33,811,159...33,844,556
Ensembl chr 4:33,809,809...33,844,656
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GRHL2
grainyhead like transcription factor 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:35,368,788...35,565,394
Ensembl chr 4:35,371,136...35,564,919
G
KCNS2
potassium voltage-gated channel modifier subfamily S member 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532
NCBI chr 4:38,362,882...38,374,415
Ensembl chr 4:38,361,347...38,367,695
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KLF10
KLF transcription factor 10
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:34,430,132...34,435,990
Ensembl chr 4:34,429,941...34,436,004
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LRP12
LDL receptor related protein 12
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:32,701,830...32,783,391
Ensembl chr 4:32,701,835...32,783,390
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MYO7A
myosin VIIA
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
G
NCALD
neurocalcin delta
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:34,924,261...35,369,393
Ensembl chr 4:35,186,182...35,367,412
G
NIPAL2
NIPA like domain containing 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:38,491,029...38,576,606
Ensembl chr 4:38,491,285...38,574,255
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ODF1
outer dense fiber of sperm tails 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:34,511,077...34,520,601
Ensembl chr 4:34,511,077...34,520,609
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OSR2
odd-skipped related transciption factor 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532
NCBI chr 4:37,890,200...37,897,935
Ensembl chr 4:37,890,203...37,897,929
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PABPC1
poly(A) binding protein cytoplasmic 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:36,137,644...36,228,075
Ensembl chr 4:36,209,164...36,228,073
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POLR2K
RNA polymerase II, I and III subunit K
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:36,849,729...36,852,622
Ensembl chr 4:36,845,242...36,852,610
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POP1
POP1 homolog, ribonuclease P/MRP subunit
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:38,608,536...38,656,204
Ensembl chr 4:38,607,708...38,656,151
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RGS22
regulator of G protein signaling 22
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:36,856,662...36,872,753
Ensembl chr 4:36,856,937...36,871,618
G
RGS22
regulator of G protein signaling 22
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:36,883,805...37,042,885
Ensembl chr 4:36,886,588...37,041,502
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RIMS2
regulating synaptic membrane exocytosis 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:32,999,615...33,613,413
Ensembl chr 4:32,999,618...33,614,366
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RNF19A
ring finger protein 19A, RBR E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:36,654,197...36,727,514
Ensembl chr 4:36,635,285...36,725,638
G
RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778
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SLC25A32
solute carrier family 25 member 32
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:33,704,810...33,727,796
Ensembl chr 4:33,704,771...33,730,130
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SNX31
sorting nexin 31
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:36,303,313...36,390,214
Ensembl chr 4:36,303,284...36,388,952
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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
NCBI chr 4:36,746,798...36,844,662
Ensembl chr 4:36,746,801...36,844,512
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STK3
serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532
NCBI chr 4:38,011,802...38,306,777
Ensembl chr 4:38,011,814...38,306,773
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UBR5
ubiquitin protein ligase E3 component n-recognin 5
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:34,645,794...34,794,510
Ensembl chr 4:34,645,809...34,793,940
G
VPS13B
vacuolar protein sorting 13 homolog B
ISO
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition
OMIM ClinVar
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:35599849 PMID:35690661 More...
NCBI chr 4:37,085,929...37,821,159
Ensembl chr 4:37,090,936...37,820,419
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YWHAZ
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:35,975,513...36,009,909
Ensembl chr 4:35,975,508...36,009,887
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ZFPM2
zinc finger protein, FOG family member 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287
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ZNF706
zinc finger protein 706
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 4:35,768,087...35,777,048
Ensembl chr 4:35,768,190...35,774,386
G
LEP
leptin
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:19427251 PMID:20140086 PMID:20307995 PMID:25551525 PMID:25741868 PMID:26186301 PMID:27075752 PMID:28209183 PMID:28377240 PMID:28492532 PMID:32349990 PMID:37314706 More...
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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LEPR
leptin receptor
ISO
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
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IRAK1BP1
interleukin 1 receptor associated kinase 1 binding protein 1
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...
NCBI chr 1:87,289,964...87,329,926
Ensembl chr 1:87,290,826...87,329,716
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PHIP
pleckstrin homology domain interacting protein
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:30564305 PMID:32492392 PMID:32801363 PMID:33004838 PMID:34773373 More...
NCBI chr 1:87,116,884...87,247,500
Ensembl chr 1:87,117,092...87,243,675
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LEPR
leptin receptor
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:28432296 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:34097736 More...
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
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LEPROT
leptin receptor overlapping transcript
ISO
ClinVar Annotator: match by term: Leptin receptor deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:146,974,641...146,987,261
Ensembl chr 6:146,974,639...146,987,242
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EIF2S3
eukaryotic translation initiation factor 2 subunit gamma
ISO
ClinVar Annotator: match by term: MEHMO syndrome
OMIM ClinVar
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 PMID:30878599 More...
NCBI chr X:20,129,708...20,162,881
Ensembl chr X:20,146,933...20,162,702
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ACSS2
acyl-CoA synthetase short chain family member 2
treatment
ISO
RGD
PMID:22384010
RGD:13831306
NCBI chr17:38,260,152...38,315,764
Ensembl chr17:38,260,147...38,315,757
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ADCY3
adenylate cyclase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29311637
NCBI chr 3:113,875,005...113,969,053
Ensembl chr 3:113,876,339...113,982,369
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AGER
advanced glycosylation end-product specific receptor
treatment
ISO
RGD
PMID:22828946
RGD:7243249
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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APLN
apelin
ISO
protein:increased expression:plasma associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:15970339 PMID:19756893
RGD:1600932 RGD:2313938
NCBI chr X:106,236,746...106,246,563
Ensembl chr X:106,236,749...106,246,377
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AQP7
aquaporin 7
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:17566090
RGD:1626289
NCBI chr10:33,098,746...33,130,245
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BBS4
Bardet-Biedl syndrome 4
susceptibility
ISO
DNA:SNPs
RGD
PMID:17003356
RGD:1601311
NCBI chr 7:60,631,913...60,693,359
Ensembl chr 7:60,631,914...60,693,334
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BDNF
brain derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
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CCK
cholecystokinin
ISO
protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821)
RGD
PMID:17443025
RGD:1625798
NCBI chr13:25,940,674...25,945,879
Ensembl chr13:25,937,645...25,945,793
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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 8:43,568,744...43,695,475
Ensembl chr 8:43,565,054...43,696,268
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CTNNBL1
catenin beta like 1
susceptibility no_association
ISO
DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human)
RGD
PMID:19228371 PMID:19245693
RGD:9850251 RGD:9850253
NCBI chr17:40,809,932...40,948,844
Ensembl chr17:40,774,720...40,949,022
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance
RGD
PMID:12883487
RGD:1626305
NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
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GHRL
ghrelin and obestatin prepropeptide
ISO
RGD
PMID:19188925
RGD:2313745
NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:16046292
RGD:1626320
NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
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IL1RN
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:11889184
RGD:1626666
G
KCNMA1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,005...80,106,295
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KSR2
kinase suppressor of ras 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr14:34,675,349...35,090,007
Ensembl chr14:34,676,164...35,089,997
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LEP
leptin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9500540 PMID:15070752
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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LEPR
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9537324
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
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LPIN1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chr 3:124,940,557...125,074,137
Ensembl chr 3:124,940,561...125,074,122
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MC4R
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11443223 PMID:12588803 PMID:29273807 PMID:29311635
RGD:1600750 RGD:1600755
NCBI chr 1:160,772,013...160,774,124
Ensembl chr 1:160,772,013...160,774,124
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MCHR1
melanin concentrating hormone receptor 1
onset
ISO
DNA:SNP:promoter
RGD
PMID:16186414
RGD:1624359
NCBI chr 5:7,735,752...7,752,006
Ensembl chr 5:7,735,825...7,738,701
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NPPB
natriuretic peptide B
ISO
protein:increased expression:serum
RGD
PMID:17273651
RGD:1642195
NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254
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NPY2R
neuropeptide Y receptor Y2
ISO
DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only
RGD
PMID:15855352
RGD:1642381
NCBI chr 8:74,039,959...74,048,398
Ensembl chr 8:74,039,616...74,047,817
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NTRK2
neurotrophic receptor tyrosine kinase 2
onset
ISO
protein:substitution:Y722C;severe early-onset
RGD
PMID:16702999
RGD:1626135
NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882
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PPARG
peroxisome proliferator activated receptor gamma
ISO
ClinVar Annotator: match by term: Morbid obesity
ClinVar
PMID:9753710 PMID:10690291 PMID:25157153 PMID:28492532
NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
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UCP3
uncoupling protein 3
ISO
ClinVar Annotator: match by term: OBESITY, SEVERE
ClinVar
PMID:9769326 PMID:25741868 PMID:28492532
NCBI chr 9:8,378,023...8,389,452
Ensembl chr 9:8,378,021...8,386,211
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CEP19
centrosomal protein 19
ISO
ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chr13:133,420,017...133,428,394
Ensembl chr13:133,420,032...133,428,390
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INPP5E
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: INPP5E-related condition | ClinVar Annotator: match by term: MORM syndrome
OMIM ClinVar
PMID:9536098 PMID:15786477 PMID:17576681 PMID:19668215 PMID:19668216 PMID:23034536 PMID:23386033 PMID:23847139 PMID:25741868 PMID:25818971 PMID:26075876 PMID:26092869 PMID:26748598 PMID:27353947 PMID:27401686 PMID:28125082 PMID:28454995 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28771248 PMID:29052317 PMID:29186038 PMID:29230161 PMID:29555955 PMID:29915382 PMID:29987673 PMID:30202406 PMID:32483926 PMID:33749171 PMID:34188062 PMID:34234304 PMID:36909829 More...
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AHCY
adenosylhomocysteinase
ISO
ClinVar Annotator: match by term: Obesity and hypopigmentation
ClinVar
PMID:36536132
NCBI chr17:37,726,084...37,744,378
Ensembl chr17:37,726,084...37,744,461
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ASIP
agouti signaling protein
ISO
ClinVar Annotator: match by term: Obesity and hypopigmentation
ClinVar
PMID:36536132
NCBI chr17:37,542,615...37,718,787
Ensembl chr17:37,545,474...37,718,779
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ITCH
itchy E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Obesity and hypopigmentation
ClinVar
PMID:36536132
NCBI chr17:37,810,113...37,918,963
Ensembl chr17:37,810,235...37,918,209
G
NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: NTRK2-related condition | ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay
OMIM ClinVar
PMID:9536098 PMID:15494731 PMID:17576681 PMID:25741868 PMID:27884935 PMID:28492532 PMID:29100083 More...
NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882
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APOA1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25137265
NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713
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APOA5
apolipoprotein A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25137265
NCBI chr 9:44,177,834...44,180,880
Ensembl chr 9:44,178,606...44,180,885
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FTO
FTO alpha-ketoglutarate dependent dioxygenase
treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs17817449 (human)
CTD RGD
PMID:25137265 PMID:26849546
RGD:11054066
NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,718
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GPR17
G protein-coupled receptor 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34144038
NCBI chr15:59,692,992...59,702,513
Ensembl chr15:59,692,996...59,701,265
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RBP4
retinol binding protein 4
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:25356519
RGD:329853302
NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
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ATP10A
ATPase phospholipid transporting 10A (putative)
ISO
ClinVar Annotator: match by term: Prader-Willi syndrome
ClinVar
PMID:28631899
NCBI chr 1:141,493,551...141,667,346
Ensembl chr 1:141,570,493...141,667,338
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GABRA5
gamma-aminobutyric acid type A receptor subunit alpha5
ISO
ClinVar Annotator: match by term: Prader-Willi syndrome
ClinVar
PMID:28631899
NCBI chr 1:140,486,107...140,568,204
Ensembl chr 1:140,486,104...140,567,894
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GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
ISO
ClinVar Annotator: match by term: Prader-Willi syndrome
ClinVar
PMID:28631899
NCBI chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,540...140,905,623
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GABRG3
gamma-aminobutyric acid type A receptor subunit gamma3
ISO
ClinVar Annotator: match by term: Prader-Willi syndrome
ClinVar
PMID:28631899
NCBI chr 1:139,855,461...140,464,592
Ensembl chr 1:139,857,095...140,464,579
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GHRL
ghrelin and obestatin prepropeptide
ISO
RGD
PMID:15057669
RGD:12905043
NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917
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HCRT
hypocretin neuropeptide precursor
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:15613151
RGD:1600935
NCBI chr12:20,588,597...20,589,991
Ensembl chr12:20,588,027...20,589,988
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HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Prader-Willi syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:28631899
NCBI chr15:56,438,117...56,649,805
Ensembl chr15:56,438,148...56,649,792
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HTR2C
5-hydroxytryptamine receptor 2C
ISO
OMIM:176270
MouseDO
NCBI chr X:94,053,415...94,313,352
Ensembl chr X:94,053,456...94,313,355
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MAGEL2
MAGE family member L2
ISO
ClinVar Annotator: match by term: Prader-Willi syndrome
ClinVar
PMID:25741868 PMID:27195816 PMID:28281571 PMID:28492532 PMID:28631899
NCBI chr 1:142,450,414...142,454,633
Ensembl chr 1:142,448,689...142,454,697
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MKRN3
makorin ring finger protein 3
ISO
ClinVar Annotator: match by term: Prader-Willi syndrome
ClinVar
PMID:28631899
NCBI chr 1:142,492,089...142,500,968
Ensembl chr 1:142,496,735...142,500,982
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NDN
necdin, MAGE family member
ISO
ClinVar Annotator: match by term: Prader-Willi syndrome
ClinVar
PMID:25741868 PMID:28631899
NCBI chr 1:142,412,688...142,413,665
Ensembl chr 1:142,412,565...142,414,240
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NPAP1
nuclear pore associated protein 1
ISO
ClinVar Annotator: match by term: Prader-Willi syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:28631899
NCBI chr 1:233,074,862...233,080,760
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OCA2
OCA2 melanosomal transmembrane protein
ISO
ClinVar Annotator: match by term: Prader-Willi syndrome
ClinVar
PMID:28631899
NCBI chr15:56,657,648...56,869,920
Ensembl chr15:56,657,616...56,869,918
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SNRPN
small nuclear ribonucleoprotein polypeptide N
susceptibility
ISO
DNA:deletion ClinVar Annotator: match by term: Prader-Willi syndrome
RGD ClinVar
PMID:8723064 PMID:28631899
RGD:1601354
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SNURF
SNRPN upstream open reading frame
ISO
ClinVar Annotator: match by term: Prader-Willi syndrome
ClinVar
PMID:28631899
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UBE3A
ubiquitin protein ligase E3A
ISO
ClinVar Annotator: match by term: Prader-Willi syndrome
ClinVar
PMID:28631899
NCBI chr 1:141,887,179...142,001,595
Ensembl chr 1:141,887,227...141,995,003
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POMC
proopiomelanocortin
ISO
ClinVar Annotator: match by term: Obesity, adrenal insufficiency, and red hair due to POMC deficiency | ClinVar Annotator: match by term: POMC-related condition | ClinVar Annotator: match by term: Proopiomelanocortin deficiency
ClinVar OMIM
PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 PMID:12165561 PMID:14557433 PMID:16459314 PMID:18091355 PMID:18697863 PMID:18765507 PMID:19221669 PMID:20349035 PMID:23293326 PMID:23649472 PMID:24890885 PMID:25741868 PMID:27906547 PMID:28492532 PMID:29970488 More...
NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418
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CAST
calpastatin
ISO
ClinVar Annotator: match by term: OBESITY AND ENDOCRINOPATHY DUE TO IMPAIRED PROCESSING OF PROHORMONES | ClinVar Annotator: match by term: Obesity due to prohormone convertase I deficiency | ClinVar Annotator: match by term: PCSK1-related condition | ClinVar Annotator: match by term: Proprotein convertase 1/3 deficiency
ClinVar
PMID:9207799 PMID:14617756 PMID:16199547 PMID:17595246 PMID:22210313 PMID:23383060 PMID:23562752 PMID:23800642 PMID:24041679 PMID:24135795 PMID:24280991 PMID:24932808 PMID:25272002 PMID:25741868 PMID:26207343 PMID:26786350 PMID:27187081 PMID:27391121 PMID:28377240 PMID:28492532 PMID:30383237 More...
NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623
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PCSK1
proprotein convertase subtilisin/kexin type 1
susceptibility
ISO
ClinVar Annotator: match by term: OBESITY AND ENDOCRINOPATHY DUE TO IMPAIRED PROCESSING OF PROHORMONES | ClinVar Annotator: match by term: Obesity due to prohormone convertase I deficiency | ClinVar Annotator: match by term: PCSK1-related condition | ClinVar Annotator: match by term: Proprotein convertase 1/3 deficiency
ClinVar OMIM
PMID:9207799 PMID:14617756 PMID:16199547 PMID:17595246 PMID:22210313 PMID:23383060 PMID:23562752 PMID:23800642 PMID:24041679 PMID:24135795 PMID:24280991 PMID:24932808 PMID:25272002 PMID:25741868 PMID:26207343 PMID:26786350 PMID:27187081 PMID:27391121 PMID:28377240 PMID:28492532 PMID:30383237 More...
NCBI chr 2:103,004,794...103,050,707
Ensembl chr 2:103,004,794...103,050,839
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RIC3
RIC3 acetylcholine receptor chaperone
ISO
ClinVar Annotator: match by term: Retinal dystrophy and obesity | ClinVar Annotator: match by term: TUB-related condition
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24375934 PMID:25741868 PMID:28492532 PMID:31785789 PMID:32037395 PMID:36498982 More...
NCBI chr 9:1,134,915...1,183,873
Ensembl chr 9:1,134,923...1,181,273
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TUB
TUB bipartite transcription factor
ISO
ClinVar Annotator: match by term: Retinal dystrophy and obesity | ClinVar Annotator: match by term: TUB-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24375934 PMID:25741868 PMID:28492532 PMID:31785789 PMID:32037395 PMID:36498982 More...
NCBI chr 9:1,183,821...1,260,209
Ensembl chr 9:1,183,822...1,206,274
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CYFIP1
cytoplasmic FMR1 interacting protein 1
ISO
associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human)
RGD
PMID:17435464
RGD:11558012
NCBI chr15:32,064,431...32,175,095
Ensembl chr15:32,064,428...32,175,094
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MAGEL2
MAGE family member L2
ISO
ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Schaaf-Yang syndrome
OMIM ClinVar
PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25590979 PMID:25741868 PMID:26365340 PMID:26633545 PMID:27195816 PMID:27632685 PMID:28281571 PMID:28492532 PMID:29581464 PMID:29599419 PMID:29660409 PMID:30302899 PMID:31152388 PMID:31397880 PMID:31680349 PMID:32860008 PMID:33371171 More...
NCBI chr 1:142,450,414...142,454,633
Ensembl chr 1:142,448,689...142,454,697
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SIM1
SIM bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Schaaf-Yang syndrome
ClinVar
NCBI chr 1:67,213,685...67,294,455
Ensembl chr 1:67,214,337...67,294,397
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KIDINS220
kinase D interacting substrate 220
ISO
ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 PMID:28934391 PMID:29667355 More...
NCBI chr 3:127,382,587...127,477,753
Ensembl chr 3:127,382,611...127,474,195
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HDAC8
histone deacetylase 8
ISO
DNA:snp:intron:c.164+5G>A (human)
RGD
PMID:22889856
RGD:13208817
NCBI chr X:58,210,182...58,450,681
Ensembl chr X:58,210,192...58,450,573
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LAS1L
LAS1 like ribosome biogenesis factor
ISO
ClinVar Annotator: match by term: Wilson-Turner syndrome
OMIM ClinVar
PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532
NCBI chr X:51,753,600...51,773,416
Ensembl chr X:51,741,965...51,773,411
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ZC3H12B
zinc finger CCCH-type containing 12B
ISO
ClinVar Annotator: match by term: Wilson-Turner syndrome
ClinVar
NCBI chr X:51,231,526...51,749,627
Ensembl chr X:51,502,732...51,749,625
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
15394
Nutritional and Metabolic Diseases
7361
nutrition disease
810
overnutrition
601
obesity
601
Abdominal Obesity +
23
Ayazi Syndrome
0
Biemond Syndrome II
0
Borjeson-Forssman-Lehmann syndrome
1
CHOPS Syndrome
1
Camera Marugo Cohen Syndrome
0
Clark-Baraitser syndrome
1
Cohen syndrome
36
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
0
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
2
MEHMO syndrome
1
MOMES Syndrome
0
MORM Syndrome
1
Macrosomia Obesity Macrocephaly Ocular Abnormalities
0
Metabolically Benign Obesity
0
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
0
Obesity Hypoventilation Syndrome
0
Obesity and Hypopigmentation
3
Obesity, Hyperphagia, and Developmental Delay
1
Pediatric Obesity
5
Prader-Willi syndrome +
18
Prolactin Deficiency with Obesity and Enlarged Testes
0
Proopiomelanocortin Deficiency
1
Retinal Dystrophy and Obesity
2
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
1
Short Stature-Obesity Syndrome
0
Vasquez Hurst Sotos Syndrome
0
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome
0
Wilson-Turner syndrome
3
Young Hughes Syndrome
0
morbid obesity +
28
proprotein convertase 1/3 deficiency
2
Path 2
disease
15394
Nutritional and Metabolic Diseases
7361
disease of metabolism
7361
acquired metabolic disease
2257
nutrition disease
810
overnutrition
601
obesity
601
Abdominal Obesity +
23
Ayazi Syndrome
0
Biemond Syndrome II
0
Borjeson-Forssman-Lehmann syndrome
1
CHOPS Syndrome
1
Camera Marugo Cohen Syndrome
0
Clark-Baraitser syndrome
1
Cohen syndrome
36
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
0
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
2
MEHMO syndrome
1
MOMES Syndrome
0
MORM Syndrome
1
Macrosomia Obesity Macrocephaly Ocular Abnormalities
0
Metabolically Benign Obesity
0
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
0
Obesity Hypoventilation Syndrome
0
Obesity and Hypopigmentation
3
Obesity, Hyperphagia, and Developmental Delay
1
Pediatric Obesity
5
Prader-Willi syndrome +
18
Prolactin Deficiency with Obesity and Enlarged Testes
0
Proopiomelanocortin Deficiency
1
Retinal Dystrophy and Obesity
2
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
1
Short Stature-Obesity Syndrome
0
Vasquez Hurst Sotos Syndrome
0
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome
0
Wilson-Turner syndrome
3
Young Hughes Syndrome
0
morbid obesity +
28
proprotein convertase 1/3 deficiency
2