RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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| Term: | obesity |
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| Accession: | DOID:9970
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 browse the term
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| Definition: | An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. (DO) |
| Synonyms: | narrow_synonym: | ADCY3-RELATED CONDITION; MONOGENIC NON-SYNDROMIC OBESITY; MONOGENIC OBESITY; Maternal Obesity; NR0B2-RELATED CONDITION; OBESITY DUE TO MELANOCORTIN 4 RECEPTOR DEFICIENCY; OBESITY DUE TO SIM1 DEFICIENCY; OBESITY, MILD, EARLY-ONSET; Obesity, Late-Onset; Obesity, autosomal dominant; SIM1-RELATED CONDITION; UCP3-RELATED CONDITION; severe obesity and type II diabetes |
| | related_synonym: | LEANNESS; MELANOCORTIN 4 RECEPTOR POLYMORPHISM; OBESITY, AGE AT ONSET OF; OBESITY, ASSOCIATION WITH; OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO; OBESITY, RESISTANCE TO; OBESITY, SUSCEPTIBILITY TO; UCP3 polymorphism G/A; obesity, variation in |
| | primary_id: | MESH:D009765 |
| | alt_id: | MESH:D000079262; MIM:601665 |
| | xref: | EFO:0001073; ICD10CM:E66.9; ICD9CM:278.00; NCI:C159658; NCI:C3283 |
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AACS |
acetoacetyl-CoA synthetase |
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ISO |
mRNA:altered expression:thalamus, hypothalamus (rat) |
RGD |
PMID:19219059 |
RGD:2326191 |
NCBI chr12:125,065,435...125,143,316
Ensembl chr12:125,065,434...125,143,333
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ABCA1 |
ATP binding cassette subfamily A member 1 |
susceptibility
disease_progression |
IAGP
ISO |
DNA:SNP:exon:p.R230C (rs9282541) (human)
mRNA:increased expression:liver (rat) |
RGD |
PMID:17287470 PMID:25612518 |
RGD:1601092, RGD:15045599 |
NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
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ABCB11 |
ATP binding cassette subfamily B member 11 |
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ISO |
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RGD |
PMID:21726512 |
RGD:14688050 |
NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
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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 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865
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ABCG8 |
ATP binding cassette subfamily G member 8 |
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IAGP |
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RGD |
PMID:15331430 |
RGD:1601095 |
NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988
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AC104123.1 |
novel transcript, antisense to PCSK1 |
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IAGP |
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:95,962,001...96,631,085
Ensembl chr 5:95,962,001...96,631,085
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ACACB |
acetyl-CoA carboxylase beta |
treatment |
EXP
ISO |
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:left ventricle myocardium (rat) |
CTD
RGD |
PMID:20882379 PMID:33310031 |
RGD:329955450 |
NCBI chr12:109,111,189...109,268,226
Ensembl chr12:109,116,587...109,268,226
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ACADM |
acyl-CoA dehydrogenase medium chain |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
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ACE |
angiotensin I converting enzyme |
no_association |
ISO
IAGP |
protein:increased expression:liver |
RGD |
PMID:19361967 PMID:17164796 |
RGD:2325227, RGD:1601115 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACHE |
acetylcholinesterase (Yt blood group) |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
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NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
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ACLY |
ATP citrate lyase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr17:41,866,917...41,930,545
Ensembl chr17:41,866,917...41,930,542
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ACOX1 |
acyl-CoA oxidase 1 |
treatment |
ISO |
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RGD |
PMID:30298849 |
RGD:401960083 |
NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177
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ACP1 |
acid phosphatase 1 |
severity |
IAGP |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:2373509 PMID:9198310 |
RGD:1625289, RGD:2313187 |
NCBI chr 2:264,947...278,283
Ensembl chr 2:264,140...278,283
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ACP5 |
acid phosphatase 5, tartrate resistant |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
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ACSL1 |
acyl-CoA synthetase long chain family member 1 |
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IEP
ISO
EXP |
mRNA:decreased expression:subcutaneous adipose tissue
mRNA, protein:increased expression:adipose tissue, liver
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:20882379 PMID:16788709 PMID:1543733 |
RGD:1625735, RGD:1625737 |
NCBI chr 4:184,755,595...184,826,594
Ensembl chr 4:184,755,595...184,826,818
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ADA |
adenosine deaminase |
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IEP |
protein:increased expression:serum |
RGD |
PMID:16501670 |
RGD:1624289 |
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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ADARB1 |
adenosine deaminase RNA specific B1 |
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ISO |
associated with Hyperphagia |
RGD |
PMID:17567573 |
RGD:10450894 |
NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560
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ADCY3 |
adenylate cyclase 3 |
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EXP
IAGP |
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ADCY3-related condition |
CTD
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29311635 |
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NCBI chr 2:24,819,169...24,920,237
Ensembl chr 2:24,819,169...24,920,237
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ADH1B |
alcohol dehydrogenase 1B (class I), beta polypeptide |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr 4:99,304,971...99,321,401
Ensembl chr 4:99,304,971...99,321,401
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ADIPOQ |
adiponectin, C1Q and collagen domain containing |
treatment |
ISO
IEP
EXP |
associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma
associated with myocardial infarction; protein:decreased expression:plasma
associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD
RGD |
PMID:10092513 PMID:14617771 PMID:16092047 PMID:19606374 PMID:18303100 PMID:18651432 PMID:23731386 PMID:28843383 More...
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RGD:1599149, RGD:2313239, RGD:5686809, RGD:5686813, RGD:8695927, RGD:14975146 |
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADIPOR1 |
adiponectin receptor 1 |
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ISO
IEP |
mRNA:increased expression:liver
mRNA:decreased expression:lymphocyte |
RGD |
PMID:16483885 PMID:17391161 |
RGD:1625763, RGD:1625761 |
NCBI chr 1:202,940,825...202,958,572
Ensembl chr 1:202,940,826...202,958,572
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ADIPOR2 |
adiponectin receptor 2 |
treatment
severity |
ISO |
mRNA:increased expression:liver
mRNA:decreased expression:liver (rat)
associated with non-alcoholic fatty liver disease |
RGD |
PMID:16483885 PMID:30225267 PMID:23838384 PMID:30131158 |
RGD:1625763, RGD:21406435, RGD:8695926, RGD:25824942 |
NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674
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ADM |
adrenomedullin |
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IEP |
mRNA, protein:increased expression:adipose tissue |
RGD |
PMID:16793965 |
RGD:1625297 |
NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
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ADORA1 |
adenosine A1 receptor |
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IEP |
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 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405
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ADRA2A |
adrenoceptor alpha 2A |
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IEA |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr10:111,077,029...111,080,907
Ensembl chr10:111,077,029...111,080,907
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ADRA2B |
adrenoceptor alpha 2B |
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IAGP |
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RGD |
PMID:10404816 |
RGD:1300265 |
NCBI chr 2:96,112,876...96,116,571
Ensembl chr 2:96,112,876...96,116,571
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ADRB1 |
adrenoceptor beta 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12032746 |
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NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904
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ADRB2 |
adrenoceptor beta 2 |
susceptibility
no_association |
IAGP
IEA
ISO
EXP |
DNA:polymorphisms: :p.R16G, p.Q27E
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:15687340 PMID:17027833 PMID:17221209 PMID:15118671 PMID:12161655 |
RGD:1601122, RGD:1601119, RGD:1331525, RGD:737773 |
NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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ADRB3 |
adrenoceptor beta 3 |
no_association
susceptibility |
IAGP
ISO
EXP |
DNA:missense mutation:cds:p.W64R (human)
mRNA:decreased expression:interscapular region, brown adipose tissue (mouse)
DNA:polymorphisms, haplotype:cds, intron, 3' utr:g.827T>C rs4994, g.1856G>T, g.3139G>C (human)
DNA:missense mutation:cds:p.W64R rs4994 (human)
ClinVar Annotator: match by term: Obesity
CTD Direct Evidence: marker/mechanism |
ClinVar
OMIM
CTD
RGD |
PMID:7609750 PMID:7609752 PMID:8903328 PMID:8954053 PMID:9054940 PMID:9100608 PMID:9112025 PMID:9449691 PMID:9709965 PMID:9814483 PMID:9892244 PMID:10323390 PMID:10323402 PMID:10999801 PMID:11095426 PMID:15472194 PMID:25741868 PMID:9126344 PMID:19373220 PMID:9892244 PMID:11882399 More...
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RGD:1559325, RGD:5684359, RGD:5684773, RGD:5684409 |
NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
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AFF4 |
ALF transcription elongation factor 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25730767 |
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NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
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AGAP2 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 |
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ISO |
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RGD |
PMID:20068140 |
RGD:13838849 |
NCBI chr12:57,723,761...57,742,161
Ensembl chr12:57,723,761...57,742,157
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AGER |
advanced glycosylation end-product specific receptor |
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ISO
IEP |
protein:decreased expression:plasma (human) |
RGD |
PMID:23046363 PMID:22761461 |
RGD:7243247, RGD:7243250 |
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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AGRP |
agouti related neuropeptide |
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IEP
ISO
IAGP
IEA
EXP |
mRNA:increased expression:hypothalamus
DNA:polymorphism:exon:c.199G>A, pAla67Thr (human)
DNA:polymorphism:promoter:-38C>T (human)
ClinVar Annotator: match by term: Obesity
CTD Direct Evidence: marker/mechanism
DNA:SNP:T67A (rs5030980) (human)
ClinVar Annotator: match by term: Obesity, late-onset |
OMIM
ClinVar
CTD
RGD |
PMID:11602360 PMID:12213871 PMID:15054840 PMID:25741868 PMID:11344185 PMID:18001323 PMID:12213871 PMID:11554767 PMID:15118671 PMID:23900445 More...
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RGD:1300272, RGD:2311538, RGD:1625232, RGD:2314000, RGD:1331525, RGD:405650675 |
NCBI chr16:67,482,571...67,483,547
Ensembl chr16:67,482,571...67,483,547
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AGT |
angiotensinogen |
susceptibility |
IAGP |
DNA:polymorphism: :p.M235T
DNA:polymorphism: :p.T174M |
RGD |
PMID:16713443 PMID:16514903 |
RGD:1601142, RGD:1601143 |
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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AGTR2 |
angiotensin II receptor type 2 |
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ISO |
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RGD |
PMID:15793237 |
RGD:2313554 |
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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AHI1 |
Abelson helper integration site 1 |
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IEP |
mRNA:increased expression:vastus lateralis |
RGD |
PMID:20045148 |
RGD:11537398 |
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
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AHR |
aryl hydrocarbon receptor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27020609 PMID:30813227 PMID:31306034 |
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NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
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AHSG |
alpha 2-HS glycoprotein |
susceptibility |
IEP
ISO |
protein:increased expression:serum |
RGD |
PMID:17011519 PMID:19228823 PMID:17011519 |
RGD:1625793, RGD:2313809, RGD:1625793 |
NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318
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AK1 |
adenylate kinase 1 |
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IEP |
protein:increased expression:skeletal muscle |
RGD |
PMID:15855311 |
RGD:1601154 |
NCBI chr 9:127,866,480...127,879,621
Ensembl chr 9:127,866,486...127,877,675
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AKAP1 |
A-kinase anchoring protein 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20975297 |
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NCBI chr17:57,085,246...57,121,344
Ensembl chr17:57,085,092...57,121,346
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AKR1C1 |
aldo-keto reductase family 1 member C1 |
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IEP |
mRNA, protein:increased expression:adipose tissue |
RGD |
PMID:15494612 |
RGD:1626148 |
NCBI chr10:4,963,415...4,983,283
Ensembl chr10:4,963,253...4,983,283
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AKR1C2 |
aldo-keto reductase family 1 member C2 |
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IEP |
mRNA, protein:increased expression:adipose tissue |
RGD |
PMID:15494612 |
RGD:1626148 |
NCBI chr10:4,987,775...5,018,000
Ensembl chr10:4,987,775...5,018,031
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AKR1C3 |
aldo-keto reductase family 1 member C3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr10:5,048,781...5,107,686
Ensembl chr10:5,035,354...5,107,686
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AKT1 |
AKT serine/threonine kinase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23954404 |
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NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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AKT2 |
AKT serine/threonine kinase 2 |
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IEP
ISO |
protein:decreased activity:rectus abdominis (human)
protein:decreased expression:plantaris (rat) |
RGD |
PMID:12663464 PMID:17923673 PMID:18508911 |
RGD:2313409, RGD:2313406, RGD:2313320 |
NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
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ALDH1L1 |
aldehyde dehydrogenase 1 family member L1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr 3:126,103,570...126,197,945
Ensembl chr 3:126,103,562...126,197,994
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ALDH6A1 |
aldehyde dehydrogenase 6 family member A1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492
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ALMS1 |
ALMS1 centrosome and basal body associated protein |
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ISS |
OMIM:601665 |
MouseDO |
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NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
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ALOX12 |
arachidonate 12-lipoxygenase, 12S type |
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ISO |
mRNA:increased expression:adipose tissue, fat cell |
RGD |
PMID:20978234 PMID:18780776 |
RGD:5509594, RGD:5509628 |
NCBI chr17:6,996,049...7,010,754
Ensembl chr17:6,996,049...7,010,754
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ALOX5AP |
arachidonate 5-lipoxygenase activating protein |
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IEP
ISO |
mRNA:increased expression:peripheral blood mononuclear cell (human)
mRNA:increased expression:adipose tissue (mouse) |
RGD |
PMID:19596146 PMID:17379835 |
RGD:2313884, RGD:2313913 |
NCBI chr13:30,713,485...30,764,426
Ensembl chr13:30,713,478...30,764,426
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AMH |
anti-Mullerian hormone |
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IEP |
protein:decreased expression:serum |
RGD |
PMID:17109858 |
RGD:1601182 |
NCBI chr19:2,249,323...2,252,073
Ensembl chr19:2,249,309...2,252,073
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ANG |
angiogenin |
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ISO |
protein:increased expression:adipose tissue |
RGD |
PMID:22748184 |
RGD:6892722 |
NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
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ANGPTL4 |
angiopoietin like 4 |
resistance |
ISO
EXP |
CTD Direct Evidence: therapeutic |
CTD
RGD |
PMID:28842503 PMID:17210919 |
RGD:1625353 |
NCBI chr19:8,364,155...8,374,370
Ensembl chr19:8,363,289...8,374,370
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ANGPTL6 |
angiopoietin like 6 |
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ISS |
OMIM:601665 |
MouseDO |
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NCBI chr19:10,092,338...10,106,190
Ensembl chr19:10,092,338...10,102,678
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ANKRD26 |
ankyrin repeat domain containing 26 |
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ISO
ISS |
OMIM:601665 |
MouseDO
RGD |
PMID:18162531 |
RGD:9681744 |
NCBI chr10:26,947,582...27,100,494
Ensembl chr10:26,973,793...27,100,494
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AOC3 |
amine oxidase copper containing 3 |
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ISO |
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RGD |
PMID:17977742 |
RGD:2313916 |
NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130
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APCDD1 |
APC down-regulated 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242765 |
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NCBI chr18:10,454,635...10,489,949
Ensembl chr18:10,454,635...10,489,949
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APLN |
apelin |
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ISO |
mRNA:increased expression:subcutaneous adipose tissue |
RGD |
PMID:17594060 |
RGD:1626170 |
NCBI chr X:129,645,259...129,654,956
Ensembl chr X:129,645,259...129,654,956
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APOA1 |
apolipoprotein A1 |
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ISO
IEP |
protein:decreased expression |
RGD |
PMID:9933608 PMID:12725089 |
RGD:2313959, RGD:1601185 |
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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APOA2 |
apolipoprotein A2 |
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ISO
IEP |
protein:increased expression:serum |
RGD |
PMID:9933608 PMID:9002300 |
RGD:2313959, RGD:1601191 |
NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631
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| G |
APOA4 |
apolipoprotein A4 |
|
IEA |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304
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|
| G |
APOA5 |
apolipoprotein A5 |
|
IEA
IPI |
DNA:SNP: :rs662799 (human) |
GAD
RGD |
PMID:15118671 PMID:25606423 |
RGD:1331525, RGD:329901774 |
NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
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|
| G |
APOB |
apolipoprotein B |
|
ISO
IEP
IEA |
associated with Insulin Resistance;protein:increased expression:plasma |
RGD
GAD |
PMID:19592617 PMID:16752182 PMID:15118671 |
RGD:2313974, RGD:1601202, RGD:1331525 |
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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|
| G |
APOBEC1 |
apolipoprotein B mRNA editing enzyme catalytic subunit 1 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:8781289 |
RGD:1626278 |
NCBI chr12:7,649,400...7,670,599
Ensembl chr12:7,649,400...7,665,908
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|
| G |
APOC1 |
apolipoprotein C1 |
|
IMP |
|
RGD |
PMID:11723061 |
RGD:2313951 |
NCBI chr19:44,914,325...44,919,346
Ensembl chr19:44,914,247...44,919,349
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|
| G |
APOC2 |
apolipoprotein C2 |
|
IEP |
protein:increased expression:serum |
RGD |
PMID:9002300 |
RGD:1601191 |
NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,946,035...44,949,565
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|
| G |
APOC3 |
apolipoprotein C3 |
|
IEP
IEA |
protein:increased expression:serum |
RGD
GAD |
PMID:9002300 PMID:15118671 |
RGD:1601191, RGD:1331525 |
NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
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|
| G |
APOD |
apolipoprotein D |
|
IAGP |
DNA:polymorphism |
RGD |
PMID:7913935 |
RGD:2311179 |
NCBI chr 3:195,568,705...195,583,940
Ensembl chr 3:195,568,705...195,584,033
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|
| G |
APOE |
apolipoprotein E |
|
IEP
IEA
ISO
EXP |
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:20975297 PMID:9002300 PMID:15118671 PMID:17192461 |
RGD:1601191, RGD:1331525, RGD:1601230 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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|
| G |
APP |
amyloid beta precursor protein |
treatment |
IEP |
mRNA,protein:increased expression:adipocyte,plasma: |
RGD |
PMID:19672057 |
RGD:10054260 |
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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| G |
AQP7 |
aquaporin 7 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16325777 |
|
NCBI chr 9:33,383,191...33,402,568
Ensembl chr 9:33,383,179...33,402,682
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| G |
AR |
androgen receptor |
susceptibility |
IAGP
IEA
ISS |
DNA:repeats: :GGN, CAG
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG
OMIM:601665 |
MouseDO
RGD |
PMID:12532157 PMID:18805913 PMID:15118671 |
RGD:1601246, RGD:2306771, RGD:1331525 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
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| G |
ARL13B |
ADP ribosylation factor like GTPase 13B |
|
ISO |
protein:decreased expression:hypothalamus, cilium (mouse) |
RGD |
PMID:22581473 |
RGD:11553936 |
NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678
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|
| G |
ASIP |
agouti signaling protein |
susceptibility |
ISO
ISS |
DNA, mRNA:deletion, insertions, increased expression: multiple organs
OMIM:601665 |
MouseDO
RGD |
PMID:7987393 |
RGD:1625724 |
NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
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|
| G |
ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2 |
susceptibility |
ISO |
|
RGD |
PMID:16286513 |
RGD:1601250 |
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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|
| G |
ATP4B |
ATPase H+/K+ transporting subunit beta |
treatment |
ISO |
|
RGD |
PMID:25822172 |
RGD:14696745 |
NCBI chr13:113,648,804...113,658,198
Ensembl chr13:113,648,804...113,658,198
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|
| G |
ATP5F1B |
ATP synthase F1 subunit beta |
treatment |
ISO |
|
RGD |
PMID:26880535 |
RGD:13782133 |
NCBI chr12:56,638,175...56,645,984
Ensembl chr12:56,638,175...56,645,984
|
|
| G |
ATP5F1C |
ATP synthase F1 subunit gamma |
|
IEP |
|
RGD |
PMID:19549744 |
RGD:14696798 |
NCBI chr10:7,788,177...7,807,801
Ensembl chr10:7,788,147...7,807,815
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|
| G |
ATP5F1D |
ATP synthase F1 subunit delta |
treatment |
ISO |
|
RGD |
PMID:27874268 |
RGD:13792665 |
NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825
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|
| G |
ATP5MC2 |
ATP synthase membrane subunit c locus 2 |
|
ISO |
|
RGD |
PMID:26709097 |
RGD:11535661 |
NCBI chr12:53,665,170...53,681,423
Ensembl chr12:53,632,726...53,677,408
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|
| G |
ATP6V0D1-DT |
ATP6V0D1 divergent transcript |
|
IAGP |
ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by term: Obesity, late-onset |
ClinVar |
PMID:11602360 PMID:12213871 PMID:15054840 PMID:25741868 |
|
NCBI chr16:67,481,394...67,506,403
Ensembl chr16:67,481,314...67,505,977
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| G |
ATPAF1 |
ATP synthase mitochondrial F1 complex assembly factor 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 1:46,632,737...46,668,557
Ensembl chr 1:46,632,737...46,673,867
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| G |
ATRN |
attractin |
|
ISO |
|
RGD |
PMID:10086355 |
RGD:734623 |
NCBI chr20:3,471,018...3,651,118
Ensembl chr20:3,471,018...3,651,118
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|
| G |
AZGP1 |
alpha-2-glycoprotein 1, zinc-binding |
|
IEP
ISO |
associated with colorectal cancer; protein:decreased expression:subcutaneous white adipose tissue
protein:decreased expression:plasma
mRNA, protein:decreased expression:fat pad, liver,plasma
mRNA:decreased expression:fat pad |
RGD |
PMID:29755407 PMID:21136593 PMID:19934249 PMID:19934249 |
RGD:153350147, RGD:153350156, RGD:153350157, RGD:153350157 |
NCBI chr 7:99,966,730...99,976,031
Ensembl chr 7:99,966,720...99,976,042
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| G |
B2M |
beta-2-microglobulin |
|
IEP |
protein:increased expression:urine |
RGD |
PMID:15517379 |
RGD:1601309 |
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
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| G |
BAD |
BCL2 associated agonist of cell death |
|
ISO |
protein:increased expression:heart left ventricle |
RGD |
PMID:18070754 |
RGD:2292682 |
NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
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| G |
BAMBI |
BMP and activin membrane bound inhibitor |
|
ISO |
mRNA:decreased expression:adipose tissue |
RGD |
PMID:22187378 |
RGD:14390162 |
NCBI chr10:28,677,521...28,682,932
Ensembl chr10:28,677,510...28,682,932
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|
| G |
BBS1 |
Bardet-Biedl syndrome 1 |
no_association |
IAGP
ISS
ISO |
DNA:mutation: :p.M390R (human)
OMIM:601665 |
MouseDO
RGD |
PMID:14993910 PMID:33722691 |
RGD:1601314, RGD:243065268 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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| G |
BBS2 |
Bardet-Biedl syndrome 2 |
susceptibility |
IAGP |
DNA:SNPs |
RGD |
PMID:17003356 |
RGD:1601311 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
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|
| G |
BBS4 |
Bardet-Biedl syndrome 4 |
onset |
IAGP
ISS |
DNA:SNPs
OMIM:601665 |
MouseDO
RGD |
PMID:17003356 |
RGD:1601311 |
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475
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| G |
BCHE |
butyrylcholinesterase |
|
EXP |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:18452903 PMID:23000450 PMID:23073171 PMID:27163854 |
|
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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| G |
BCL2 |
BCL2 apoptosis regulator |
|
ISO |
mRNA, protein:decreased expression:heart left ventricle |
RGD |
PMID:18202171 |
RGD:2293027 |
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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|
| G |
BDKRB1 |
bradykinin receptor B1 |
|
ISO |
|
RGD |
PMID:17184856 |
RGD:1625733 |
NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
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| G |
BDNF |
brain derived neurotrophic factor |
|
IEP
IAGP |
protein:decreased expression:plasma
ClinVar Annotator: match by term: Obesity |
ClinVar
RGD |
PMID:11840487 PMID:25741868 PMID:28492532 PMID:17151862 |
RGD:10059350 |
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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| G |
BDNF-AS |
BDNF antisense RNA |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:11840487 PMID:25741868 PMID:28492532 |
|
NCBI chr11:27,506,852...27,698,171
Ensembl chr11:27,506,830...27,698,231
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| G |
BNIP3 |
BCL2 interacting protein 3 |
|
ISO |
|
RGD |
PMID:18070754 |
RGD:2292682 |
NCBI chr10:131,967,684...131,981,923
Ensembl chr10:131,967,684...131,981,967
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| G |
BRD2 |
bromodomain containing 2 |
|
ISO |
|
RGD |
PMID:19883376 |
RGD:9586446 |
NCBI chr 6:32,968,594...32,981,505
Ensembl chr 6:32,968,594...32,981,505
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| G |
BRS3 |
bombesin receptor subtype 3 |
|
ISO |
|
RGD |
PMID:9367152 |
RGD:734661 |
NCBI chr X:136,487,947...136,493,780
Ensembl chr X:136,487,947...136,493,780
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| G |
C3 |
complement C3 |
treatment |
ISO |
|
RGD |
PMID:23118029 |
RGD:7411625 |
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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|
| G |
C5AR1 |
complement C5a receptor 1 |
treatment |
ISO |
|
RGD |
PMID:23118029 |
RGD:7411625 |
NCBI chr19:47,307,477...47,322,066
Ensembl chr19:47,290,023...47,322,066
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| G |
CA3 |
carbonic anhydrase 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 8:85,438,859...85,449,040
Ensembl chr 8:85,373,436...85,449,040
|
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| G |
CADM2 |
cell adhesion molecule 2 |
|
IAGP |
DNA:SNP: :rs13078807 (human) |
RGD |
PMID:31341224 |
RGD:15092077 |
NCBI chr 3:84,958,989...86,074,429
Ensembl chr 3:84,958,989...86,074,429
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| G |
CANX |
calnexin |
|
IEP |
protein:increased expression:subcutaneous adipose tissue |
RGD |
PMID:18567819 |
RGD:2314284 |
NCBI chr 5:179,678,656...179,731,641
Ensembl chr 5:179,678,628...179,731,641
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| G |
CAPN10 |
calpain 10 |
|
IAGP |
DNA:SNPs |
RGD |
PMID:16752174 |
RGD:1625047 |
NCBI chr 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705
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|
| G |
CARTPT |
CART prepropeptide |
no_association
susceptibility |
IAGP
EXP |
DNA:polymorphism:3' utr (human)
DNA:deletion, substitution: :1457delA, 1475A>G (human)
DNA:missense mutation:exon:729G>C, p.L34F (human)
ClinVar Annotator: match by term: Obesity
CTD Direct Evidence: marker/mechanism |
ClinVar
OMIM
CTD
RGD |
PMID:11522684 PMID:15326462 PMID:25741868 PMID:10805512 PMID:10574510 PMID:11522684 More...
|
RGD:2313633, RGD:2313634, RGD:1625192 |
NCBI chr 5:71,719,275...71,721,045
Ensembl chr 5:71,719,275...71,721,048
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|
| G |
CASP1 |
caspase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22325453 |
|
NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250
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|
| G |
CAST |
calpastatin |
|
IAGP |
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:95,961,429...96,774,683
Ensembl chr 5:96,525,267...96,779,595
Ensembl chr 5:96,525,267...96,779,595
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| G |
CAV1 |
caveolin 1 |
|
ISO |
|
RGD |
PMID:22492718 |
RGD:6784520 |
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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| G |
CAV2 |
caveolin 2 |
|
ISO |
|
RGD |
PMID:22492718 |
RGD:6784520 |
NCBI chr 7:116,499,738...116,508,541
Ensembl chr 7:116,287,380...116,508,541
|
|
| G |
CCKAR |
cholecystokinin A receptor |
|
ISO
IAGP |
DNA:deletion |
RGD |
PMID:9530226 PMID:9192855 |
RGD:7257724, RGD:734711 |
NCBI chr 4:26,481,396...26,490,484
Ensembl chr 4:26,481,396...26,490,484
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|
| G |
CCL2 |
C-C motif chemokine ligand 2 |
|
IEP
ISO
EXP |
protein, mRNA:increased expression:plasma, fat
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:29035695 PMID:17803693 PMID:18469848 |
RGD:2306993, RGD:2307038 |
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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| G |
CCL4 |
C-C motif chemokine ligand 4 |
|
ISO |
|
RGD |
PMID:21862610 |
RGD:5683906 |
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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|
| G |
CCL5 |
C-C motif chemokine ligand 5 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:18469848 |
RGD:2307038 |
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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|
| G |
CCL7 |
C-C motif chemokine ligand 7 |
|
IEP |
mRNA:increased expression:adipose tissue |
RGD |
PMID:18492752 |
RGD:6483834 |
NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
|
|
| G |
CCR3 |
C-C motif chemokine receptor 3 |
|
IEP |
mRNA:increased expression:adipose tissue |
RGD |
PMID:18492752 |
RGD:6483834 |
NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
|
|
| G |
CD163 |
CD163 molecule |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29035695 |
|
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
|
|
| G |
CD36 |
CD36 molecule (CD36 blood group) |
|
ISO |
mRNA, protein:increased expression:liver, gastrocnemius
protein:increased expression:skeletal muscle, T-tubule |
RGD |
PMID:20435456 PMID:22615812 PMID:23743348 PMID:25477422 |
RGD:6893497, RGD:6893542, RGD:11041118, RGD:11041132 |
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
|
|
| G |
CD40 |
CD40 molecule |
treatment |
ISO
EXP |
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:29035695 PMID:21670556 |
RGD:7248753 |
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
|
|
| G |
CD40LG |
CD40 ligand |
|
ISO
IEP |
protein:increased expression:serum |
RGD |
PMID:21817098 PMID:20660932 |
RGD:5490592, RGD:5490970 |
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
|
|
| G |
CD68 |
CD68 molecule |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29035695 |
|
NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
|
|
| G |
CDK4 |
cyclin dependent kinase 4 |
susceptibility |
IAGP |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:intron:IVS4-40G>A (human) |
RGD |
PMID:19634152 |
RGD:2314609 |
NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
|
|
| G |
CDKAL1 |
CDK5 regulatory subunit associated protein 1 like 1 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr 6:20,534,457...21,232,404
Ensembl chr 6:20,534,457...21,232,404
|
|
| G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
|
ISO |
protein:decreased expression:liver |
RGD |
PMID:23357529 |
RGD:10045356 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
|
|
| G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
|
ISO |
|
RGD |
PMID:22194422 |
RGD:8552660 |
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
|
|
| G |
CDO1 |
cysteine dioxygenase type 1 |
|
ISO |
|
RGD |
PMID:16627576 |
RGD:2301355 |
NCBI chr 5:115,804,733...115,816,659
Ensembl chr 5:115,804,733...115,816,659
|
|
| G |
CEBPA |
CCAAT enhancer binding protein alpha |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242765 |
|
NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534
|
|
| G |
CENPO |
centromere protein O |
|
IAGP |
ClinVar Annotator: match by term: ADCY3-related condition |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:24,793,425...24,822,376
Ensembl chr 2:24,793,136...24,822,376
|
|
| G |
CERS1 |
ceramide synthase 1 |
|
ISO |
mRNA:increased expression:skeletal muscle cell |
RGD |
PMID:30605666 |
RGD:156431060 |
NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727
|
|
| G |
CES1 |
carboxylesterase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20975297 |
|
NCBI chr16:55,802,851...55,833,096
Ensembl chr16:55,802,851...55,833,337
|
|
| G |
CFD |
complement factor D |
|
IEP
ISO |
mRNA, protein:decreased expression:adipocyte, serum |
RGD |
PMID:14564690 PMID:2197880 |
RGD:1624324, RGD:1624327 |
NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
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|
| G |
CIDEA |
cell death inducing DFFA like effector a |
|
IAGP
EXP |
protein:amino acid substitution:V115F
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:20975297 PMID:16186410 |
RGD:1625390 |
NCBI chr18:12,254,361...12,277,595
Ensembl chr18:12,254,361...12,277,595
|
|
| G |
CNR1 |
cannabinoid receptor 1 |
no_association |
IAGP
ISO
EXP
IDA |
DNA:polymorphism:exon:3813A>G (human)
DNA:polymorphism: :1256C>A, 1419+1G>C (human)
CTD Direct Evidence: marker/mechanism
DNA, mRNA:hypermethylation, increased expression:promoter, hypothalamus
DNA:hypermethylation:promoter, peripheral blood mononuclear cell |
CTD
RGD |
PMID:18722357 PMID:17405839 PMID:17292652 PMID:19325539 PMID:19530697 PMID:31258545 PMID:31258545 More...
|
RGD:1626325, RGD:1626326, RGD:2314630, RGD:2314629, RGD:401827956, RGD:401827956 |
NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
|
|
| G |
CNTF |
ciliary neurotrophic factor |
no_association |
IAGP |
DNA:point mutation:intron:G>A |
RGD |
PMID:14747836 PMID:12404108 |
RGD:1626114, RGD:1626113 |
NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733
|
|
| G |
COL1A1 |
collagen type I alpha 1 chain |
|
ISO |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:28746409 |
RGD:401965413 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
|
|
| G |
COL3A1 |
collagen type III alpha 1 chain |
|
ISO |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:28746409 |
RGD:401965413 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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|
| G |
COL4A1 |
collagen type IV alpha 1 chain |
|
ISO |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:28746409 |
RGD:401965413 |
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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|
| G |
COMT |
catechol-O-methyltransferase |
susceptibility |
IAGP |
DNA:polymorphism:exon |
RGD |
PMID:17497175 |
RGD:2289713 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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|
| G |
COX7C |
cytochrome c oxidase subunit 7C |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 5:86,617,941...86,620,962
Ensembl chr 5:86,617,928...86,620,962
|
|
| G |
COX8BP |
cytochrome c oxidase subunit 8B, pseudogene |
|
ISO |
|
RGD |
PMID:16027000 |
RGD:2301397 |
NCBI chr11:253,417...256,972
Ensembl chr11:253,446...253,558
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|
| G |
CPB2 |
carboxypeptidase B2 |
|
IEP
EXP |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:16959692 PMID:11836301 |
RGD:2313645 |
NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033
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|
| G |
CPE |
carboxypeptidase E |
no_association |
IAGP
ISO
EXP
ISS |
no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients
CTD Direct Evidence: marker/mechanism
OMIM:601665
DNA:SNP:intron (rs1946816, rs4481204) (human) |
CTD
MouseDO
RGD |
PMID:15358678 PMID:23434795 PMID:9662053 PMID:7663508 PMID:23900445 |
RGD:1626184, RGD:1626181, RGD:405650675 |
NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547
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|
| G |
CPS1 |
carbamoyl-phosphate synthase 1 |
|
ISO |
|
RGD |
PMID:15481768 |
RGD:2303517 |
NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
|
|
| G |
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 chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410
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|
| G |
CRH |
corticotropin releasing hormone |
|
IDA |
|
RGD |
PMID:11564446 |
RGD:5508830 |
NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
|
|
| G |
CRHBP |
corticotropin releasing hormone binding protein |
|
ISO |
mRNA:decreased expression:anterior pituitary gland (rat) |
RGD |
PMID:10600923 |
RGD:5508840 |
NCBI chr 5:76,953,045...76,981,159
Ensembl chr 5:76,953,045...76,981,158
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|
| G |
CRHR1 |
corticotropin releasing hormone receptor 1 |
|
IAGP |
DNA:SNP:CDS:861C>T (human) |
RGD |
PMID:14724656 |
RGD:1626226 |
NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828
|
|
| G |
CRP |
C-reactive protein |
disease_progression |
IEP
EXP
ISO |
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver (rat) |
CTD
RGD |
PMID:24042701 PMID:20660932 PMID:25612518 |
RGD:5490970, RGD:15045599 |
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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|
| G |
CS |
citrate synthase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr12:56,271,699...56,300,330
Ensembl chr12:56,271,699...56,300,391
|
|
| G |
CST3 |
cystatin C |
|
ISO
IEP |
protein:increased expression:plasma (rat)
protein:increased expression:serum (human) |
RGD |
PMID:18946178 PMID:18374694 |
RGD:2314297, RGD:2314346 |
NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
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|
| G |
CTF1 |
cardiotrophin 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21803294 |
|
NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547
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|
| G |
CTSC |
cathepsin C |
|
ISO |
|
RGD |
PMID:3705543 |
RGD:1599645 |
NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
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|
| G |
CTSS |
cathepsin S |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21156398 |
|
NCBI chr 1:150,730,188...150,765,778
Ensembl chr 1:150,730,079...150,765,957
|
|
| G |
CX3CR1 |
C-X3-C motif chemokine receptor 1 |
|
IAGP |
DNA:SNP: :p.T280M (human) |
RGD |
PMID:20523302 |
RGD:4891903 |
NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
|
|
| G |
CXCR4 |
C-X-C motif chemokine receptor 4 |
|
ISO |
|
RGD |
PMID:25016030 |
RGD:13673852 |
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
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|
| G |
CYB5A |
cytochrome b5 type A |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
|
|
| G |
CYCS |
cytochrome c, somatic |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16317704 |
|
NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260
|
|
| G |
CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:27036855 |
|
NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
|
|
| G |
CYP26B1 |
cytochrome P450 family 26 subfamily B member 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862
|
|
| G |
CYP27B1 |
cytochrome P450 family 27 subfamily B member 1 |
susceptibility |
IAGP |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) |
RGD |
PMID:17223345 |
RGD:2307312 |
NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
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|
| G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
|
ISO
EXP |
protein:increased activity:liver,fat
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:23954404 PMID:17049493 |
RGD:1626307 |
NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
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|
| G |
CYP2R1 |
cytochrome P450 family 2 subfamily R member 1 |
|
IAGP |
associated with hypertension:DNA:SNP:CDS: rs12794714 (human) |
RGD |
PMID:34906413 |
RGD:401900724 |
NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
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|
| G |
DCN |
decorin |
|
ISO |
|
RGD |
PMID:17244723 |
RGD:1600551 |
NCBI chr12:91,140,484...91,182,817
Ensembl chr12:91,140,484...91,183,217
|
|
| G |
DCXR |
dicarbonyl and L-xylulose reductase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr17:82,035,858...82,037,697
Ensembl chr17:82,035,136...82,037,709
|
|
| G |
DDHD2 |
DDHD domain containing 2 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:23176823 PMID:24337409 PMID:24517879 PMID:25417924 PMID:25741868 PMID:28492532 PMID:32488064 More...
|
|
NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558
|
|
| G |
DDIT3 |
DNA damage inducible transcript 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26655953 |
|
NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
|
|
| G |
DEAF1 |
DEAF1 transcription factor |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
|
|
| G |
DEFB1 |
defensin beta 1 |
|
ISO |
mRNA:decreased expression:kidney |
RGD |
PMID:11340353 |
RGD:4892260 |
NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936
|
|
| G |
DGAT1 |
diacylglycerol O-acyltransferase 1 |
no_association
treatment |
IAGP
ISO |
DNA:polymorphism:C97T |
RGD |
PMID:14569040 PMID:10802663 PMID:18183944 |
RGD:1625597, RGD:734536, RGD:10401058 |
NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910
|
|
| G |
DIO2 |
iodothyronine deiodinase 2 |
no_association |
IAGP |
protein:substitution:Thr92Ala |
RGD |
PMID:17077128 |
RGD:1626439 |
NCBI chr14:80,197,526...80,231,057
Ensembl chr14:80,197,526...80,387,757
|
|
| G |
DIP2C |
disco interacting protein 2 homolog C |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
|
NCBI chr10:274,201...689,668
Ensembl chr10:274,201...689,668
|
|
| G |
DIXDC1 |
DIX domain containing 1 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr11:111,927,315...112,022,653
Ensembl chr11:111,927,144...112,022,653
|
|
| G |
DNM1L |
dynamin 1 like |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:26825290 PMID:27328748 PMID:28492532 |
|
NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
|
|
| G |
DNMT3A |
DNA methyltransferase 3 alpha |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:24614070 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
|
|
| G |
DPYD |
dihydropyrimidine dehydrogenase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
|
|
| G |
DRD1 |
dopamine receptor D1 |
treatment |
ISO |
protein:increased serine phosphorylation:renal proximal tubule, membrane (rat) |
RGD |
PMID:15983225 PMID:15983225 PMID:17191082 |
RGD:7248449, RGD:7248449, RGD:7248552 |
NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
|
|
| G |
DRD2 |
dopamine receptor D2 |
|
ISO
IAGP |
mRNA:decreased expression:ventral tegmental area (rat)
DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple |
RGD |
PMID:18477764 PMID:17108814 PMID:15939106 |
RGD:2311581, RGD:1600904, RGD:1600905 |
NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
|
|
| G |
DRD4 |
dopamine receptor D4 |
|
IEA
ISO |
protein:decreased expression:kidney (rat) |
GAD
RGD |
PMID:15118671 PMID:20810614 |
RGD:1331525, RGD:7248616 |
NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706
|
|
| G |
DUSP1 |
dual specificity phosphatase 1 |
susceptibility |
ISO |
|
RGD |
PMID:16814733 |
RGD:2298673 |
NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
|
|
| G |
ECH1 |
enoyl-CoA hydratase 1 |
treatment |
ISO |
|
RGD |
PMID:31961704 |
RGD:21408561 |
NCBI chr19:38,815,422...38,831,794
Ensembl chr19:38,815,422...38,831,841
|
|
| G |
ECHS1 |
enoyl-CoA hydratase, short chain 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr10:133,362,485...133,373,354
Ensembl chr10:133,362,485...133,373,354
|
|
| G |
EDN1 |
endothelin 1 |
|
IAGP |
DNA:polymorphism:exon:p.K198N (human) |
RGD |
PMID:17444275 |
RGD:1625065 |
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
|
|
| G |
EFNB1 |
ephrin B1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24098442 |
|
NCBI chr X:68,829,021...68,842,160
Ensembl chr X:68,829,021...68,842,160
|
|
| G |
EGFR |
epidermal growth factor receptor |
|
ISO |
protein:decreased phosphorylation:liver (mouse) |
RGD |
PMID:3624263 |
RGD:5131534 |
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
|
|
| G |
EHD1 |
EH domain containing 1 |
|
ISO |
|
RGD |
PMID:21365757 |
RGD:8661255 |
NCBI chr11:64,851,642...64,879,693
Ensembl chr11:64,851,642...64,888,296
|
|
| G |
ELOVL6 |
ELOVL fatty acid elongase 6 |
|
ISO |
mRNA,protein:increased expression:liver: |
RGD |
PMID:31988048 |
RGD:21403676 |
NCBI chr 4:110,045,846...110,199,202
Ensembl chr 4:110,045,846...110,199,199
|
|
| G |
EMC1 |
ER membrane protein complex subunit 1 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:26572623 PMID:26942288 PMID:28492532 PMID:29271071 |
|
NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552
|
|
| G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
IAGP
EXP |
Obesity, OMIM:601665;DNA:polymorphism
ClinVar Annotator: match by term: Obesity
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity |
ClinVar
CTD
OMIM
RGD |
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:16025115 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:20016754 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:25741868 PMID:27238374 PMID:28377967 PMID:28492532 PMID:29979387 PMID:35738466 PMID:16025115 More...
|
RGD:1601042 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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|
| G |
ENTPD6 |
ectonucleoside triphosphate diphosphohydrolase 6 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
|
NCBI chr20:25,195,712...25,228,075
Ensembl chr20:25,195,693...25,228,075
|
|
| G |
EP300 |
E1A binding protein p300 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26441656 |
|
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
|
|
| G |
ESR1 |
estrogen receptor 1 |
|
ISO
EXP |
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:20667977 PMID:11095962 PMID:22230815 |
RGD:8553065, RGD:8553199 |
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
|
|
| G |
ESR2 |
estrogen receptor 2 |
|
ISO |
|
RGD |
PMID:22230815 |
RGD:8553199 |
NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
|
|
| G |
ESRRA |
estrogen related receptor alpha |
no_association |
IAGP |
|
RGD |
PMID:16755280 |
RGD:1625637 |
NCBI chr11:64,305,524...64,316,743
Ensembl chr11:64,305,497...64,316,743
|
|
| G |
ETFDH |
electron transfer flavoprotein dehydrogenase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742
|
|
| G |
F2 |
coagulation factor II, thrombin |
|
IEP
ISO
EXP |
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:22841818 PMID:21210148 PMID:23628972 |
RGD:5147773, RGD:7387310 |
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
|
|
| G |
F7 |
coagulation factor VII |
|
IEP
IDA |
protein:increased activity:plasma (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) |
RGD |
PMID:19329212 PMID:16739871 PMID:14513073 PMID:9258277 |
RGD:2312379, RGD:1625710, RGD:2312395, RGD:2312404 |
NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
|
|
| G |
FAAH |
fatty acid amide hydrolase |
|
IAGP
EXP |
DNA:polymorphism
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:19103437 PMID:20716455 PMID:15809662 |
RGD:1625726 |
NCBI chr 1:46,394,317...46,413,845
Ensembl chr 1:46,394,317...46,413,848
|
|
| G |
FABP1 |
fatty acid binding protein 1 |
|
ISO |
Western diet-induced obesity |
RGD |
PMID:17058218 |
RGD:1626440 |
NCBI chr 2:88,122,982...88,128,062
Ensembl chr 2:88,122,982...88,128,062
|
|
| G |
FABP2 |
fatty acid binding protein 2 |
no_association
onset |
IAGP |
DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups
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:p.A54T (human) |
RGD |
PMID:17211557 PMID:15620432 PMID:14981227 |
RGD:1626407, RGD:1578458, RGD:1626400 |
NCBI chr 4:119,317,250...119,322,138
Ensembl chr 4:119,317,250...119,322,138
|
|
| G |
FABP3 |
fatty acid binding protein 3 |
|
IEP |
associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:decreased expression:skeletal muscle |
RGD |
PMID:17515913 |
RGD:2307328 |
NCBI chr 1:31,359,588...31,373,076
Ensembl chr 1:31,365,253...31,376,850
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|
| G |
FABP4 |
fatty acid binding protein 4 |
|
ISO |
|
RGD |
PMID:8910278 |
RGD:737747 |
NCBI chr 8:81,478,419...81,483,233
Ensembl chr 8:81,478,419...81,483,236
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|
| G |
FADD |
Fas associated via death domain |
|
ISO |
protein:increased expression:heart left ventricle |
RGD |
PMID:18202171 |
RGD:2293027 |
NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390
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|
| G |
FADS1 |
fatty acid desaturase 1 |
|
ISO |
protein:decreased expression:microsomes, liver |
RGD |
PMID:8446010 |
RGD:1625421 |
NCBI chr11:61,799,627...61,817,003
Ensembl chr11:61,799,627...61,829,318
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| G |
FANCA |
FA complementation group A |
|
ISO |
|
RGD |
PMID:22482891 |
RGD:11046266 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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|
| G |
FANCC |
FA complementation group C |
|
ISO |
|
RGD |
PMID:22482891 |
RGD:11046266 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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|
| G |
FASN |
fatty acid synthase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr17:82,078,338...82,098,236
Ensembl chr17:82,078,338...82,098,294
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|
| G |
FBXO11 |
F-box protein 11 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498
|
|
| G |
FCGR3B |
Fc gamma receptor IIIb |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29035695 |
|
NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
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|
| G |
FGF21 |
fibroblast growth factor 21 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24184811 PMID:26797127 |
|
NCBI chr19:48,755,524...48,758,330
Ensembl chr19:48,755,524...48,758,333
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|
| G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO
IEP |
mRNA:increased expression:hypothalamus:
mRNA:increased expression:adipose tissue: |
RGD |
PMID:21430024 PMID:21430024 |
RGD:10402094, RGD:10402094 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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|
| G |
FGG |
fibrinogen gamma chain |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:22134356 |
RGD:11352709 |
NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
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|
| G |
FGGY |
FGGY carbohydrate kinase domain containing |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29220483 |
|
NCBI chr 1:59,296,378...59,762,730
Ensembl chr 1:59,296,638...59,810,647
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| G |
FOS |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27071101 |
|
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
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| G |
FOXA2 |
forkhead box A2 |
|
ISO |
|
RGD |
PMID:12865419 |
RGD:1627574 |
NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
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|
| G |
FOXC2 |
forkhead box C2 |
|
IAGP |
DNA:polymorphism:5'ut:-512C>T(human) |
RGD |
PMID:15601967 |
RGD:1601218 |
NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
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|
| G |
FOXO3 |
forkhead box O3 |
|
ISO
EXP |
protein:increased expression:myocardium:
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:23954404 PMID:16467659 |
RGD:10402201 |
NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774
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| G |
FTL |
ferritin light chain |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
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| G |
FTO |
FTO alpha-ketoglutarate dependent dioxygenase |
severity |
EXP
IAGP
IMP
IPI
ISO |
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:rs9939609 (human)
DNA:SNP: :rs9939609 (human)
DNA:SNP:intron:rs17817449 (human)
DNA:SNPs: :rs9939609, rs1421085, rs17817449 (human)
DNA:SNP: :rs3751812 (human)
mRNA:increased expression:pancreas
mRNA, protein:increased expression:liver |
CTD
RGD |
PMID:17496892 PMID:19079260 PMID:19079261 PMID:19151714 PMID:19918250 PMID:21076408 PMID:23134754 PMID:23111453 PMID:31801409 PMID:21919686 PMID:29540276 PMID:25606423 PMID:32420297 PMID:35945320 More...
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RGD:329812007, RGD:329812010, RGD:329812016, RGD:329812040, RGD:329845887, RGD:329901774, RGD:329951013, RGD:329951016 |
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
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| G |
FXN |
frataxin |
|
ISO |
DNA:deletion:exon (mouse) |
RGD |
PMID:17404227 |
RGD:2307045 |
NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
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|
| G |
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:2307347, RGD:2307340 |
NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,517,825...154,547,572
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| G |
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 chr 5:161,685,721...161,702,592
Ensembl chr 5:161,547,063...161,702,593
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| G |
GAL |
galanin and GMAP prepropeptide |
no_association |
IAGP
IEP |
protein:increased expression:plasma |
RGD |
PMID:15930442 PMID:11220530 |
RGD:1625748, RGD:1624334 |
NCBI chr11:68,684,544...68,691,175
Ensembl chr11:68,683,779...68,691,175
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| G |
GALP |
galanin like peptide |
|
ISO |
mRNA:decreased expression:arcuate nucleus |
RGD |
PMID:15256810 |
RGD:2313739 |
NCBI chr19:56,176,008...56,185,775
Ensembl chr19:56,176,008...56,185,775
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|
| G |
GALR1 |
galanin receptor 1 |
no_association |
IAGP |
|
RGD |
PMID:15930442 |
RGD:1625748 |
NCBI chr18:77,249,848...77,277,900
Ensembl chr18:77,249,848...77,277,900
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|
| G |
GAPDH |
glyceraldehyde-3-phosphate dehydrogenase |
treatment |
ISO |
|
RGD |
PMID:27987997 |
RGD:13792668 |
NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
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| G |
GAS7 |
growth arrest specific 7 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270708 |
|
NCBI chr17:9,910,606...10,198,606
Ensembl chr17:9,910,606...10,198,606
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| G |
GCG |
glucagon |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20065960 |
|
NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
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| G |
GCK |
glucokinase |
|
ISO |
DNA, mRNA, protein:hypermethylation, increased expression:liver |
RGD |
PMID:21239437 |
RGD:7488967 |
NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
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|
| G |
GCKR |
glucokinase regulator |
no_association |
IAGP |
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 2:27,496,839...27,523,684
Ensembl chr 2:27,496,839...27,523,684
|
|
| G |
GFPT1 |
glutamine--fructose-6-phosphate transaminase 1 |
|
IDA
EXP |
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:20882379 PMID:11118009 |
RGD:1625423 |
NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
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|
| G |
GH1 |
growth hormone 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8923850 |
|
NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
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|
| G |
GHRL |
ghrelin and obestatin prepropeptide |
susceptibility |
IAGP
EXP |
ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by term: Obesity, age at onset of
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron (rs35683) (human) |
ClinVar
OMIM
CTD
RGD |
PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868 PMID:23900445 More...
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RGD:405650675 |
NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
|
|
| G |
GHRLOS |
ghrelin opposite strand/antisense RNA |
|
IAGP |
ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by term: Obesity, age at onset of |
ClinVar |
PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868 |
|
NCBI chr 3:10,280,952...10,293,449
Ensembl chr 3:10,285,754...10,294,903
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| G |
GHSR |
growth hormone secretagogue receptor |
|
IAGP |
DNA:point mutation:exon:F279L |
RGD |
PMID:16511600 |
RGD:1625270 |
NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456
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|
| G |
GIP |
gastric inhibitory polypeptide |
|
IDA
IEP
ISO |
associated with Polycystic Ovary Syndrome; protein:increased expression:plasma (human)
protein:increased expression:plasma (rat) |
RGD |
PMID:3546047 PMID:19375579 PMID:18063845 |
RGD:2312551, RGD:2312588, RGD:2312547 |
NCBI chr17:48,958,554...48,968,596
Ensembl chr17:48,958,554...48,968,596
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|
| G |
GIPR |
gastric inhibitory polypeptide receptor |
susceptibility |
IEP
IAGP
ISO |
mRNA:reduced expression:fat tissue (human)
DNA:polymorphism:intron 1 C>A (rs2302382) (human)
mRNA:splice variant:pancreatic islet (mouse) |
RGD |
PMID:17395281 PMID:19254363 PMID:17971513 PMID:12068290 |
RGD:2312616, RGD:2312615, RGD:2312612, RGD:737714 |
NCBI chr19:45,668,221...45,683,722
Ensembl chr19:45,668,221...45,683,722
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|
| G |
GJA5 |
gap junction protein alpha 5 |
|
ISO |
mRNA, protein:decreased expression:mesenteric artery |
RGD |
PMID:18324386 |
RGD:7207466 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
|
|
| G |
GLDC |
glycine decarboxylase |
|
IAGP |
ClinVar Annotator: match by term: Obesity, autosomal dominant |
ClinVar |
PMID:10873393 PMID:11286506 PMID:12126939 PMID:15670722 PMID:15791207 PMID:17361008 PMID:20301531 PMID:25741868 PMID:26179960 PMID:27362913 PMID:28492532 More...
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|
NCBI chr 9:6,532,467...6,645,729
Ensembl chr 9:6,532,467...6,645,729
|
|
| G |
GLP1R |
glucagon like peptide 1 receptor |
|
ISO
IAGP |
mRNA:decreased expression:hypothalamus medial zone
DNA:SNP:intron (rs2268641) (human) |
RGD |
PMID:15279492 PMID:23900445 |
RGD:1624351, RGD:405650675 |
NCBI chr 6:39,048,781...39,091,303
Ensembl chr 6:39,048,781...39,091,303
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|
| G |
GLRX |
glutaredoxin |
|
ISO |
protein:increased expression:renal visceral adipose: |
RGD |
PMID:23404913 |
RGD:9686064 |
NCBI chr 5:95,813,849...95,822,726
Ensembl chr 5:95,751,319...95,822,726
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|
| G |
GLUL |
glutamate-ammonia ligase |
|
ISO
EXP |
protein:increased activity:skeletal muscle:activity is increased in Zucker fa/fa genetically obese but not dietary obese (fa/?) rats vs non-obese (fa/?) rats
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:20882379 PMID:15481771 |
RGD:2301479 |
NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206
|
|
| G |
GNAS |
GNAS complex locus |
|
IAGP
EXP |
associated with Polycystic Ovary Syndrome;DNA:polymorphism: :393T>C (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity |
CTD
ClinVar
RGD |
PMID:11784876 PMID:12970262 PMID:17062894 PMID:21525160 PMID:23281139 PMID:23796510 PMID:25741868 PMID:25802881 PMID:28492532 PMID:29059381 PMID:17062894 More...
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RGD:11568045 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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|
| G |
GNB3 |
G protein subunit beta 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15961981 PMID:16141801 |
|
NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393
|
|
| G |
GNPDA2 |
glucosamine-6-phosphate deaminase 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079261 |
|
NCBI chr 4:44,701,795...44,726,556
Ensembl chr 4:44,682,200...44,726,588
|
|
| G |
GOT2 |
glutamic-oxaloacetic transaminase 2 |
|
ISO |
protein:increased expression:skeletal muscle tissue, T-tubule (rat) |
RGD |
PMID:23743348 |
RGD:11041118 |
NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342
|
|
| G |
GPAM |
glycerol-3-phosphate acyltransferase, mitochondrial |
|
ISO |
mRNA:increased expression:pancreatic islet |
RGD |
PMID:9032096 |
RGD:2313659 |
NCBI chr10:112,149,865...112,227,677
Ensembl chr10:112,149,865...112,215,377
|
|
| G |
GPR12 |
G protein-coupled receptor 12 |
|
ISS |
OMIM:601665 |
MouseDO |
|
|
NCBI chr13:26,755,200...26,760,786
Ensembl chr13:26,755,200...26,760,786
|
|
| G |
GPR17 |
G protein-coupled receptor 17 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34144038 |
|
NCBI chr 2:127,646,153...127,652,639
Ensembl chr 2:127,645,864...127,652,639
|
|
| G |
GPT2 |
glutamic--pyruvic transaminase 2 |
|
ISO |
protein:increased expression, activity:liver: |
RGD |
PMID:25865565 |
RGD:11342811 |
NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289
|
|
| G |
GPX1 |
glutathione peroxidase 1 |
treatment |
EXP
ISO |
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:15184668 PMID:30298849 |
RGD:401960083 |
NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
|
|
| G |
GPX3 |
glutathione peroxidase 3 |
treatment |
ISO
EXP |
protein:decreased expression, activity:plasma (mouse)
mRNA:decreased expression:adipose tissue (rat)
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:embryo, blastocyst
protein:decreased expression:plasma |
CTD
RGD |
PMID:11328671 PMID:19270708 PMID:18562625 PMID:19212806 PMID:21862610 PMID:31791316 PMID:21535898 More...
|
RGD:2312633, RGD:2307430, RGD:5683906, RGD:401827913, RGD:401827923 |
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
|
|
| G |
GRIA4 |
glutamate ionotropic receptor AMPA type subunit 4 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr11:105,609,616...105,982,090
Ensembl chr11:105,609,535...105,982,090
|
|
| G |
GSTA4 |
glutathione S-transferase alpha 4 |
|
ISO |
mRNA:decreased expression:gonadal fat pad (mouse) |
RGD |
PMID:20150287 |
RGD:5687771 |
NCBI chr 6:52,977,953...52,995,284
Ensembl chr 6:52,977,948...52,995,304
|
|
| G |
GSTT1 |
glutathione S-transferase theta 1 |
|
ISO |
mRNA:decreased expression:liver |
RGD |
PMID:31063713 |
RGD:14701042 |
|
|
| G |
GUCY2C |
guanylate cyclase 2C |
|
ISS |
OMIM:601665 |
MouseDO |
|
|
NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599
|
|
| G |
HADH |
hydroxyacyl-CoA dehydrogenase |
|
ISO
EXP |
protein:increased expression:skeletal muscle
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:20882379 PMID:16088331 |
RGD:2302228 |
NCBI chr 4:107,989,889...108,035,171
Ensembl chr 4:107,989,714...108,035,241
|
|
| G |
HCRT |
hypocretin neuropeptide precursor |
|
IEP
ISO
EXP |
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
mRNA:increased expression:perifornical nucleus
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:27071101 PMID:15970339 PMID:16135994 PMID:12560202 |
RGD:1600932, RGD:1600933, RGD:1358428 |
NCBI chr17:42,184,060...42,185,452
Ensembl chr17:42,184,060...42,185,452
|
|
| G |
HDAC4 |
histone deacetylase 4 |
|
IEP |
mRNA,protein:decreased expression:mononuclear cell, adipose tissue: |
RGD |
PMID:24086512 |
RGD:9681453 |
NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
|
|
| G |
HFE |
homeostatic iron regulator |
|
IAGP |
associated with Diabetes Mellitus, Type 2;DNA:missense mutations:CDS:p.C282Y, p.H63D (human) |
RGD |
PMID:10705106 |
RGD:1601449 |
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
|
|
| G |
HGF |
hepatocyte growth factor |
|
IEP |
protein:increased expression:serum |
RGD |
PMID:12706940 |
RGD:1642704 |
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
|
|
| G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
|
IEP |
associated with hepatocellular carcinoma;RNA:decreased expression:liver: |
RGD |
PMID:31321740 |
RGD:155882550 |
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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|
| G |
HK1 |
hexokinase 1 |
susceptibility |
IDA
ISO |
|
RGD |
PMID:12524468 PMID:131232 |
RGD:1601528, RGD:1601527 |
NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
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|
| G |
HK2 |
hexokinase 2 |
|
ISO
IDA
EXP |
mRNA:increased expression:gastrocnemius
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:20882379 PMID:16555472 PMID:11319725 |
RGD:1624365, RGD:2313227 |
NCBI chr 2:74,834,127...74,893,359
Ensembl chr 2:74,834,127...74,893,359
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|
| G |
HMGA2 |
high mobility group AT-hook 2 |
|
ISO |
|
RGD |
PMID:10742101 |
RGD:1601569 |
NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
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|
| G |
HMGB2 |
high mobility group box 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 4:173,331,376...173,334,358
Ensembl chr 4:173,331,376...173,334,432
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|
| G |
HMGCS1 |
3-hydroxy-3-methylglutaryl-CoA synthase 1 |
|
ISO |
protein:decreased activity:liver (rat) |
RGD |
PMID:1685984 |
RGD:2326155 |
NCBI chr 5:43,287,470...43,313,412
Ensembl chr 5:43,287,470...43,313,512
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|
| G |
HMOX1 |
heme oxygenase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18334666 PMID:18375438 PMID:19171794 |
|
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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|
| G |
HOXB5 |
homeobox B5 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22484627 |
|
NCBI chr17:48,591,257...48,593,779
Ensembl chr17:48,591,257...48,593,779
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|
| G |
HP |
haptoglobin |
treatment |
ISO
IEP |
mRNA:increased expression:white fat
protein:increased expression:serum |
RGD |
PMID:11807829 PMID:17161237 PMID:15181041 PMID:19917068 |
RGD:1626349, RGD:1626339, RGD:1626346, RGD:9685197 |
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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| G |
HRH3 |
histamine receptor H3 |
|
ISO |
|
RGD |
PMID:17189541 |
RGD:1626405 |
NCBI chr20:62,214,960...62,220,278
Ensembl chr20:62,214,960...62,220,278
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|
| G |
HSD11B1 |
hydroxysteroid 11-beta dehydrogenase 1 |
|
IEP
IEA
EXP |
mRNA:increased expression:adipose tissue:13-fold higher in obese subjects than controls, protein expression also increased
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:17628001 PMID:21786805 PMID:16914598 PMID:15118671 |
RGD:1625071, RGD:1331525 |
NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
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|
| G |
HSD11B2 |
hydroxysteroid 11-beta dehydrogenase 2 |
resistance |
IDA
ISO |
transgenic mice expressing human HSD11B2
mRNA:increased expression:adipose tissue:subcutaneous not retroperitoneal fat |
RGD |
PMID:17208436 PMID:15793240 |
RGD:1625081, RGD:1625083 |
NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553
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|
| G |
HSPA1B |
heat shock protein family A (Hsp70) member 1B |
|
IAGP |
DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p<0.000001) |
RGD |
PMID:11319647 |
RGD:1626642 |
NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254
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|
| G |
HSPA5 |
heat shock protein family A (Hsp70) member 5 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26655953 |
|
NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
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|
| G |
HTR1B |
5-hydroxytryptamine receptor 1B |
|
ISO |
protein:increase expression:arcuate nucleus |
RGD |
PMID:10564740 |
RGD:1626450 |
NCBI chr 6:77,460,924...77,463,491
Ensembl chr 6:77,460,924...77,463,491
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|
| G |
HTR2A |
5-hydroxytryptamine receptor 2A |
susceptibility
no_association |
IAGP
EXP |
DNA:polymorphism:promoter:-1438G>A
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron (rs912127) (human) |
CTD
RGD |
PMID:17097612 PMID:16328014 PMID:16491645 PMID:23900445 |
RGD:1624370, RGD:1624369, RGD:405650675 |
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
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|
| G |
HTR2C |
5-hydroxytryptamine receptor 2C |
susceptibility |
IAGP
EXP |
DNA:polymorphism:promoter:-759C>T
associated with Schizophrenia and Psychotic Disorders;DNA:polymorphisms:promoter:multiple
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:17702092 PMID:19142110 PMID:15048662 PMID:17016522 |
RGD:1624991, RGD:1624982 |
NCBI chr X:114,584,086...114,910,061
Ensembl chr X:114,584,078...114,910,061
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| G |
ICAM1 |
intercellular adhesion molecule 1 |
|
IEP
ISO
EXP |
protein:increased secretion:plasma (human)
protein:increased expression:submandibular gland (rat)
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:11782876 PMID:20004360 PMID:20973827 |
RGD:4145463, RGD:4145329 |
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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| G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
|
RGD |
PMID:14969338 |
RGD:1626475 |
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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|
| G |
IDO1 |
indoleamine 2,3-dioxygenase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27020609 |
|
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
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|
| G |
IFNG |
interferon gamma |
|
ISO |
associated with Asthma;protein:increased expression:serum |
RGD |
PMID:19575934 |
RGD:2311494 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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|
| G |
IGF1R |
insulin like growth factor 1 receptor |
|
ISO |
mRNA:decreased expression:heart (rat) |
RGD |
PMID:11009458 |
RGD:12904882 |
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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|
| G |
IGF2 |
insulin like growth factor 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11528401 |
|
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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|
| G |
IGFBP2 |
insulin like growth factor binding protein 2 |
|
IEP
IMP
EXP |
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:22537059 PMID:17426323 PMID:17259371 |
RGD:1626478, RGD:1626479 |
NCBI chr 2:216,632,828...216,664,436
Ensembl chr 2:216,632,828...216,664,436
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|
| G |
IGFBP3 |
insulin like growth factor binding protein 3 |
|
ISO |
mRNA, protein:decreased expression:pancreatic fat pad |
RGD |
PMID:22067319 |
RGD:10402755 |
NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
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| G |
IGFBP6 |
insulin like growth factor binding protein 6 |
|
IDA |
human transgene overexpressed in mouse brain |
RGD |
PMID:15889232 |
RGD:2301717 |
NCBI chr12:53,097,667...53,102,340
Ensembl chr12:53,097,436...53,102,345
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|
| G |
IKBKB |
inhibitor of nuclear factor kappa B kinase subunit beta |
|
ISO |
protein:increased expression:liver: |
RGD |
PMID:15685173 |
RGD:10045952 |
NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
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|
| G |
IL10 |
interleukin 10 |
|
ISO
IEP |
protein:increase expression:serum |
RGD |
PMID:18787467 PMID:28843383 |
RGD:2308945, RGD:14975146 |
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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|
| G |
IL15 |
interleukin 15 |
|
IEP |
mRNA, protein:altered expression:skeletal muscle, plasma |
RGD |
PMID:18697873 |
RGD:2313573 |
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
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|
| G |
IL18 |
interleukin 18 |
treatment |
ISO |
|
RGD |
PMID:20490358 PMID:16732281 |
RGD:7175343, RGD:14695532 |
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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| G |
IL1B |
interleukin 1 beta |
treatment |
ISO
IEP |
protein:increased expression:plasma (mouse)
protein:increased expression:kidney (rat) |
RGD |
PMID:16567518 PMID:23150506 PMID:20490358 PMID:24146106 PMID:28843383 |
RGD:1626637, RGD:7175086, RGD:7175343, RGD:10450599, RGD:14975146 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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|
| G |
IL1RN |
interleukin 1 receptor antagonist |
|
ISO
IEP |
mRNA, protein:increased expression:adipose tissue |
RGD |
PMID:12975454 PMID:12716739 |
RGD:1626664, RGD:1626665 |
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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| G |
IL3 |
interleukin 3 |
|
IEP |
protein: decreased expression: plasma |
RGD |
PMID:21203453 |
RGD:5686875 |
NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204
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|
| G |
IL6 |
interleukin 6 |
|
IAGP
IEP
ISO
EXP |
DNA:polymorphism>promoter:174G>C
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
mRNA:increased expression:islet of Langerhans
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:20141834 PMID:24042701 PMID:16493118 PMID:19228869 PMID:21826222 |
RGD:1601582, RGD:2307257, RGD:10402828 |
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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|
| G |
IL6R |
interleukin 6 receptor |
susceptibility |
IAGP
IEP |
DNA:polymorphism: :p.D358A
DNA:duplication
protein:increased expression:serum
DNA:SNP, haplotypes:promoter:-208G>A (rs4845617) (human) |
RGD |
PMID:16817825 PMID:12917504 PMID:17434052 PMID:17984249 |
RGD:1625430, RGD:1625428, RGD:1625429, RGD:10402807 |
NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
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| G |
IL7 |
interleukin 7 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20376352 |
|
NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523
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|
| G |
INPP5E |
inositol polyphosphate-5-phosphatase E |
treatment |
ISO
EXP |
protein:increased expression:skeletal muscle, white adipose tissue
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:19668215 PMID:23349329 PMID:23349329 |
RGD:12911211, RGD:12911211 |
NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
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|
| G |
INPPL1 |
inositol polyphosphate phosphatase like 1 |
|
IAGP |
DNA:SNPs: :rs2276047,snp8,rs9886(human) |
RGD |
PMID:15220217 |
RGD:1626127 |
NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
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|
| G |
INS |
insulin |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2777199 PMID:8923850 PMID:11528401 PMID:29035695 |
|
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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| G |
IRS1 |
insulin receptor substrate 1 |
|
ISO
EXP |
protein:decreased tyrosine phosphorylation, increased serine phosphorylation:skeletal muscle
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:23954404 PMID:22982470 |
RGD:7207062 |
NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
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| G |
IRS2 |
insulin receptor substrate 2 |
|
IEA |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
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|
| G |
ITGAM |
integrin subunit alpha M |
|
EXP
IEP |
CTD Direct Evidence: marker/mechanism
protein:increased expression:monocyte (human) |
CTD
RGD |
PMID:29035695 PMID:21446916 |
RGD:329901665 |
NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
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| G |
ITIH4 |
inter-alpha-trypsin inhibitor heavy chain 4 |
|
ISO |
|
RGD |
PMID:22134356 |
RGD:11352709 |
NCBI chr 3:52,812,962...52,830,672
Ensembl chr 3:52,812,962...52,830,688
|
|
| G |
JAK2 |
Janus kinase 2 |
|
IEP
ISO |
mRNA:decreased expression:omental adipose tissue:by microarray
protein:decreased expression:hypothalamus |
RGD |
PMID:14630696 PMID:23397595 |
RGD:1627661, RGD:10411893 |
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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|
| G |
JUND |
JunD proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
mRNA,protein:increased expression:heart |
RGD |
PMID:30629164 |
RGD:401900736 |
NCBI chr19:18,279,694...18,281,622
Ensembl chr19:18,279,694...18,281,622
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| G |
KCNH2 |
potassium voltage-gated channel subfamily H member 2 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:7889573 PMID:9024139 PMID:9927399 PMID:10753933 PMID:10973849 PMID:11113008 PMID:11468227 PMID:11668638 PMID:11854117 PMID:12354768 PMID:15051636 PMID:15840476 PMID:16432067 PMID:17160940 PMID:17445409 PMID:18441445 PMID:18593567 PMID:19716085 PMID:19841300 PMID:22581653 PMID:22949429 PMID:23303164 PMID:24606995 PMID:24623279 PMID:24667783 PMID:25741868 PMID:26847485 PMID:28492532 PMID:29672598 PMID:30246897 More...
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|
NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
|
|
| G |
KCNMA1 |
potassium calcium-activated channel subfamily M alpha 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27605626 |
|
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
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| G |
KCTD15 |
potassium channel tetramerization domain containing 15 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079261 |
|
NCBI chr19:33,794,040...33,815,761
Ensembl chr19:33,795,933...33,815,763
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| G |
KDM3A |
lysine demethylase 3A |
|
ISO
ISS |
OMIM:601665 |
MouseDO
RGD |
PMID:19875498 |
RGD:9590220 |
NCBI chr 2:86,437,044...86,492,716
Ensembl chr 2:86,440,647...86,492,716
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|
| G |
KIF4A |
kinesin family member 4A |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
|
NCBI chr X:70,290,104...70,420,886
Ensembl chr X:70,290,104...70,420,886
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| G |
KITLG |
KIT ligand |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23954404 |
|
NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851
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| G |
LACTB |
lactamase beta |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18344982 |
|
NCBI chr15:63,121,861...63,142,061
Ensembl chr15:63,121,833...63,142,061
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|
| G |
LBP |
lipopolysaccharide binding protein |
treatment |
ISO
EXP |
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:23349936 PMID:19917068 |
RGD:9685197 |
NCBI chr20:38,346,482...38,377,013
Ensembl chr20:38,346,482...38,377,013
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| G |
LCN2 |
lipocalin 2 |
|
ISO
IEP |
mRNA:increased expression:epididymal fat pad, adipose cell (rat)
mRNA:decreased expression:ovary, testicle
protein:increased expression:serum |
RGD |
PMID:18292240 PMID:32627017 PMID:21143924 |
RGD:2316514, RGD:126790490, RGD:126790530 |
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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| G |
LDLR |
low density lipoprotein receptor |
|
IEA
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25554529 PMID:15118671 |
RGD:1331525 |
NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
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| G |
LEP |
leptin |
no_association
treatment |
ISO
IAGP
IEA
IEP
ISS
EXP |
protein:increased expression:serum
in a US Caucasian population
mouse protein in a rat model
DNA:nonsense mutation:cds:
OMIM:601665
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity |
MouseDO
CTD
ClinVar
RGD |
PMID:9202122 PMID:9502777 PMID:9826672 PMID:17517446 PMID:18515891 PMID:19913045 PMID:20122948 PMID:24042701 PMID:25086370 PMID:25551525 PMID:25554529 PMID:25741868 PMID:26186301 PMID:27071101 PMID:28492532 PMID:28698385 PMID:31313498 PMID:21075806 PMID:19726711 PMID:15910756 PMID:7624776 PMID:15118671 PMID:19267279 PMID:10029567 PMID:23793169 PMID:23800849 PMID:22948215 More...
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RGD:5128551, RGD:5128629, RGD:1643130, RGD:2311134, RGD:1331525, RGD:2311132, RGD:10053612, RGD:10053638, RGD:8549777, RGD:12904911 |
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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| G |
LEPR |
leptin receptor |
susceptibility
treatment
no_association
sexual_dimorphism
disease_progression |
ISO
IAGP
IEA
EXP
ISS |
mRNA:decreased expression:lung
DNA:polymorphism:exon:p.Q223R (human)
DNA:missense mutation:CDS:p.Q269P (rat)
protein:increased expression:hippocampus, astrocyte
compared to BN
compared to age-matched lean +/fa rats
compared to heterozygous controls +/fa
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity
CTD Direct Evidence: marker/mechanism
OMIM:601665
DNA:mutations:cds: : (rat)
DNA:mutations::cds: : (rat)
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity |
ClinVar
CTD
MouseDO
RGD |
PMID:3519326 PMID:8666155 PMID:11354636 PMID:11380591 PMID:11443193 PMID:12006639 PMID:17065336 PMID:17229951 PMID:17785359 PMID:18490929 PMID:19913045 PMID:20567778 PMID:21393862 PMID:21744741 PMID:22276206 PMID:22331430 PMID:23563609 PMID:24263156 PMID:25222487 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29743445 PMID:30689673 PMID:30993381 PMID:35235096 PMID:35472412 PMID:20592105 PMID:8841178 PMID:18204169 PMID:8702432 PMID:15118671 PMID:24785100 PMID:16284652 PMID:9545018 PMID:22693203 PMID:27465994 PMID:27225180 PMID:20159938 PMID:9843879 PMID:27465994 PMID:11500530 PMID:32710530 PMID:28746409 PMID:10901178 More...
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RGD:5129154, RGD:1600612, RGD:5128855, RGD:729297, RGD:1331525, RGD:10411891, RGD:10412018, RGD:10412023, RGD:10412038, RGD:12911217, RGD:12910507, RGD:7365117, RGD:628910, RGD:12911217, RGD:628581, RGD:401960103, RGD:401965413, RGD:401965414 |
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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| G |
LEPROT |
leptin receptor overlapping transcript |
|
IAGP |
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:65,420,668...65,436,007
Ensembl chr 1:65,420,587...65,436,007
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|
| G |
LIPC |
lipase C, hepatic type |
|
IEP
ISO |
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human)
protein:altered expression:liver, plasma (rat) |
RGD |
PMID:12843191 PMID:11544558 |
RGD:2308835, RGD:2308784 |
NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844
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|
| G |
LIPE |
lipase E, hormone sensitive type |
|
ISO |
mRNA:decreased expression:white fat |
RGD |
PMID:17712951 |
RGD:2313580 |
NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388
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|
| G |
LIPG |
lipase G, endothelial type |
|
IEP |
protein:increased expression:plasma |
RGD |
PMID:16772345 |
RGD:1641819 |
NCBI chr18:49,561,479...49,599,185
Ensembl chr18:49,560,699...49,599,185
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|
| G |
LOC106728418 |
LEP 5' regulatory region |
|
IAGP |
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity |
ClinVar |
|
|
NCBI chr 7:128,238,356...128,241,306
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|
| G |
LOC108167315 |
POMC promoter region |
|
IAGP |
ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr 2:25,168,454...25,169,266
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| G |
LOC114803475 |
PPARG eExon liver enhancer |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:12,405,503...12,406,702
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|
| G |
LOC122094844 |
Sharpr-MPRA regulatory region 5730 |
|
IAGP |
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity |
ClinVar |
|
|
NCBI chr 1:65,615,946...65,616,240
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|
| G |
LOC126806660 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:41549167-41550366 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr 3:41,507,676...41,508,875
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|
| G |
LOC126861261 |
MED14-independent group 3 enhancer GRCh37_chr11:73715060-73716259 |
|
IAGP |
ClinVar Annotator: match by term: UCP3-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:74,004,015...74,005,214
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| G |
LOC129933280 |
ATAC-STARR-seq lymphoblastoid silent region 11244 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:25,161,684...25,161,833
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| G |
LPL |
lipoprotein lipase |
treatment |
ISO
EXP |
mRNA:increased expression:white fat
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:18344982 PMID:17712951 PMID:18952837 PMID:28514832 PMID:27160499 |
RGD:2313580, RGD:2313300, RGD:13793401, RGD:13794378 |
NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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|
| G |
MAPK1 |
mitogen-activated protein kinase 1 |
|
IEP |
protein:increased phosphorylation:endometrium (human) |
RGD |
PMID:20074784 |
RGD:13782055 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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|
| G |
MAPK3 |
mitogen-activated protein kinase 3 |
|
IEP |
protein:increased phosphorylation:endometrium (human) |
RGD |
PMID:20074784 |
RGD:13782055 |
NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
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|
| G |
MAPT |
microtubule associated protein tau |
|
ISO |
|
RGD |
PMID:25257559 |
RGD:13800921 |
NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
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|
| G |
MBL1P |
mannose binding lectin 1, pseudogene |
|
ISO |
protein:decreased secretion:plasma (mouse) |
RGD |
PMID:16955210 |
RGD:4889156 |
NCBI chr10:79,920,178...79,923,119
Ensembl chr10:79,920,327...79,923,032
Ensembl chr10:79,920,327...79,923,032
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| G |
MBL2 |
mannose binding lectin 2 |
|
IAGP |
DNA:missense mutations:cds:p.R52C, p.G57E (human) |
RGD |
PMID:16955210 |
RGD:4889156 |
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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| G |
MC3R |
melanocortin 3 receptor |
susceptibility |
IAGP
IEA
ISS |
DNA:point mutation:I183N
DNA:missense mutations:cds:p.T6K, p.V81I (human)
ClinVar Annotator: match by term: Obesity
OMIM:601665 |
ClinVar
MouseDO
RGD |
PMID:11889220 PMID:16123355 PMID:15118671 |
RGD:1625178, RGD:6484587, RGD:1331525 |
NCBI chr20:56,248,732...56,249,815
Ensembl chr20:56,248,732...56,249,815
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| G |
MC4R |
melanocortin 4 receptor |
|
IAGP
IEA
ISO
EXP
ISS |
DNA:nonsense mutation:cds:p.K314X (rat)
mRNA:decreased expression:hypothalamus
ClinVar Annotator: match by term: Obesity
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity due to melanocortin 4 receptor deficiency
ClinVar Annotator: match by term: Monogenic Obesity
ClinVar Annotator: match by term: Obesity, autosomal dominant
OMIM:601665
mRNA, protein:decreased expression:liver (rat)
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 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
CTD
MouseDO
RGD |
PMID:9267995 PMID:10078568 PMID:10199800 PMID:10577903 PMID:10585465 PMID:10592235 PMID:10903341 PMID:10903343 PMID:11443223 PMID:12364414 PMID:12364415 PMID:12499395 PMID:12588803 PMID:12629567 PMID:12646665 PMID:12646666 PMID:12690102 PMID:12815165 PMID:12851297 PMID:12959994 PMID:12970296 PMID:14633862 PMID:14764812 PMID:14764818 PMID:14973783 PMID:15037865 PMID:15126516 PMID:15448103 PMID:15466016 PMID:15486053 PMID:15585384 PMID:15805150 PMID:15975705 PMID:16030156 PMID:16032553 PMID:16083993 PMID:16094248 PMID:16231025 PMID:16274851 PMID:16289450 PMID:16469222 PMID:16492696 PMID:16507637 PMID:16611215 PMID:16614075 PMID:16616374 PMID:16710097 PMID:16752916 PMID:16960181 PMID:17143585 PMID:17185898 PMID:17286227 PMID:17306938 PMID:17357083 PMID:17492953 PMID:17517246 PMID:17519222 PMID:17579204 PMID:17590021 PMID:17628007 PMID:17668051 PMID:17986382 PMID:18454148 PMID:18559663 PMID:18801902 PMID:18835933 PMID:18997677 PMID:19011902 PMID:19079260 PMID:19079261 PMID:19091795 PMID:19151714 PMID:19179454 PMID:19184404 PMID:19244934 PMID:19284607 PMID:19298524 PMID:19301229 PMID:19400288 PMID:19417090 PMID:19766264 PMID:19889825 PMID:20462274 PMID:20631012 PMID:20696697 PMID:20826565 PMID:20966905 PMID:20975296 PMID:21085626 PMID:21404042 PMID:22106157 PMID:22447289 PMID:22463805 PMID:22688572 PMID:23146882 PMID:23251400 PMID:23505181 PMID:23791567 PMID:24248383 PMID:24276017 PMID:24385306 PMID:24426828 PMID:24512492 PMID:24611737 PMID:24705671 PMID:24780838 PMID:24890885 PMID:25076858 PMID:25136332 PMID:25332687 PMID:25741868 PMID:25741869 PMID:26047380 PMID:26179253 PMID:26238496 PMID:26244670 PMID:26467025 PMID:26588347 PMID:26666384 PMID:26782456 PMID:26788538 PMID:27222505 PMID:27654141 PMID:28218067 PMID:28492532 PMID:29273807 PMID:29311635 PMID:29758564 PMID:29861388 PMID:29970488 PMID:30048591 PMID:30719650 PMID:30811542 PMID:30926952 PMID:30991789 PMID:31002796 PMID:31118516 PMID:31841602 PMID:32185475 PMID:32534219 PMID:32952152 PMID:32971154 PMID:33761344 PMID:33889637 PMID:12646665 PMID:15118671 PMID:21527895 PMID:9019399 PMID:21779089 PMID:24400148 PMID:35945320 More...
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RGD:1600756, RGD:1331525, RGD:6478803, RGD:6484144, RGD:6484210, RGD:13825242, RGD:329951016 |
NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
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| G |
MCHR1 |
melanin concentrating hormone receptor 1 |
|
ISO |
mRNA:increased expression:hypothalamus |
RGD |
PMID:15363890 |
RGD:1624360 |
NCBI chr22:40,679,484...40,682,812
Ensembl chr22:40,679,273...40,682,812
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| G |
ME1 |
malic enzyme 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270708 |
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NCBI chr 6:83,210,402...83,431,051
Ensembl chr 6:83,210,402...83,431,051
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| G |
MFN2 |
mitofusin 2 |
|
IEP
ISO |
mRNA:decreased expression:skeletal muscle tissue (human)
mRNA:decreased expression:liver (rat) |
RGD |
PMID:12598526 PMID:25336449 |
RGD:1601412, RGD:12880438 |
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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| G |
MGRN1 |
mahogunin ring finger 1 |
|
ISO |
|
RGD |
PMID:16638826 |
RGD:1641947 |
NCBI chr16:4,624,826...4,690,972
Ensembl chr16:4,616,493...4,690,974
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| G |
MIF |
macrophage migration inhibitory factor |
|
IEP
IAGP |
mRNA, protein:increased expression:mononuclear cell, plasma
DNA:polymorphisms:promoter |
RGD |
PMID:15472203 PMID:16247506 |
RGD:1641953, RGD:1641950 |
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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| G |
MIR107 |
microRNA 107 |
|
ISO |
RNA:decreased expression:liver: |
RGD |
PMID:21120623 |
RGD:14975298 |
NCBI chr10:89,592,747...89,592,827
Ensembl chr10:89,592,747...89,592,827
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| G |
MIR125A |
microRNA 125a |
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ISO |
|
RGD |
PMID:31988048 |
RGD:21403676 |
NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
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| G |
MIR130A |
microRNA 130a |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242765 |
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NCBI chr11:57,641,198...57,641,286
Ensembl chr11:57,641,198...57,641,286
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| G |
MIR130B |
microRNA 130b |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242765 |
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NCBI chr22:21,653,304...21,653,385
Ensembl chr22:21,653,304...21,653,385
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| G |
MIR155 |
microRNA 155 |
|
ISO
IEP |
miRNA:decreased expression:serum |
RGD |
PMID:28970282 PMID:27856635 PMID:29479888 |
RGD:21079445, RGD:21079446, RGD:24922220 |
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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| G |
MIR184 |
microRNA 184 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23954404 |
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NCBI chr15:79,209,788...79,209,871
Ensembl chr15:79,209,788...79,209,871
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| G |
MIR21 |
microRNA 21 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23954404 |
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NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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| G |
MIR223 |
microRNA 223 |
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IEP |
RNA:increased expression:pancreatic islet |
RGD |
PMID:31118273 |
RGD:25823139 |
NCBI chr X:66,018,870...66,018,979
Ensembl chr X:66,018,870...66,018,979
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| G |
MIR23A |
microRNA 23a |
|
IEP |
associated with hepatocellular carcinoma;RNA:increased expression:exosome, liver: |
RGD |
PMID:31321740 |
RGD:155882550 |
NCBI chr19:13,836,587...13,836,659
Ensembl chr19:13,836,587...13,836,659
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| G |
MIR23B |
microRNA 23b |
|
IEP |
associated with hepatocellular carcinoma;RNA:increased expression:exosome, liver: |
RGD |
PMID:31321740 |
RGD:155882550 |
NCBI chr 9:95,085,208...95,085,304
Ensembl chr 9:95,085,208...95,085,304
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| G |
MIR34A |
microRNA 34a |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23834033 |
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NCBI chr 1:9,151,668...9,151,777
Ensembl chr 1:9,151,668...9,151,777
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| G |
MKKS |
MKKS centrosomal shuttling protein |
no_association |
IAGP
IDA
ISS |
protein:substitution:A242S possible contribution
unlikely to play a major role in the pathogenesis of nonsyndromic obesity
OMIM:601665 |
MouseDO
RGD |
PMID:15483080 PMID:15483080 PMID:10973251 |
RGD:1601414, RGD:1601414, RGD:1581208 |
NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
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| G |
MMP19 |
matrix metallopeptidase 19 |
|
ISO |
mRNA:increased expression:adipose tissue |
RGD |
PMID:12529376 PMID:15169894 |
RGD:1642023, RGD:1642022 |
NCBI chr12:55,835,433...55,842,936
Ensembl chr12:55,835,433...55,842,966
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| G |
MMP9 |
matrix metallopeptidase 9 |
|
IEP
EXP |
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:21156398 PMID:17512313 |
RGD:1642026 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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| G |
MMUT |
methylmalonyl-CoA mutase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
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NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253
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| G |
MRC1 |
mannose receptor C-type 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29035695 |
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NCBI chr10:17,809,348...17,911,164
Ensembl chr10:17,809,348...17,911,164
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| G |
MT-CYB |
mitochondrially encoded cytochrome b |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:12905068 PMID:25741868 |
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NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
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| G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
IAGP |
DNA:missense mutation: :p.A64V (human) |
RGD |
PMID:16060290 |
RGD:2300401 |
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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| G |
MT3 |
metallothionein 3 |
|
ISO |
|
RGD |
PMID:21726645 |
RGD:6480475 |
NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
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| G |
MTCH2 |
mitochondrial carrier 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079261 |
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NCBI chr11:47,604,317...47,642,559
Ensembl chr11:47,617,315...47,642,607
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| G |
MTOR |
mechanistic target of rapamycin kinase |
|
ISO |
mRNA, protein:decreased expression:hypothalamus |
RGD |
PMID:25807795 |
RGD:11570513 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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| G |
MTTP |
microsomal triglyceride transfer protein |
susceptibility |
IAGP |
DNA:polymorphisms |
RGD |
PMID:15635487 |
RGD:1625486 |
NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
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| G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
mRNA:decreased expression:pancreas (rat) |
RGD |
PMID:22421529 |
RGD:7240547 |
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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| G |
MYH10 |
myosin heavy chain 10 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,474,212...8,630,725
Ensembl chr17:8,474,207...8,631,376
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| G |
MYH9 |
myosin heavy chain 9 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
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| G |
MYOD1 |
myogenic differentiation 1 |
|
ISO |
mRNA:decreased expression:plantaris |
RGD |
PMID:22349736 PMID:18508911 |
RGD:9686079, RGD:2313320 |
NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
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| G |
MYOG |
myogenin |
|
ISO |
mRNA:decreased expression:plantaris |
RGD |
PMID:18508911 |
RGD:2313320 |
NCBI chr 1:203,083,129...203,086,012
Ensembl chr 1:203,083,129...203,086,012
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| G |
NAMPT |
nicotinamide phosphoribosyltransferase |
|
IEP
EXP |
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:23834033 PMID:17618961 |
RGD:1642336 |
NCBI chr 7:106,248,298...106,285,888
Ensembl chr 7:106,248,298...106,285,966
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| G |
NCF2 |
neutrophil cytosolic factor 2 |
|
ISO |
protein:increased expression:artery |
RGD |
PMID:17515452 |
RGD:2314435 |
NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905
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| G |
NCOA1 |
nuclear receptor coactivator 1 |
|
ISS |
OMIM:601665 |
MouseDO |
|
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NCBI chr 2:24,491,254...24,770,702
Ensembl chr 2:24,491,254...24,770,702
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| G |
NCOA3 |
nuclear receptor coactivator 3 |
|
IAGP |
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 chr20:47,501,887...47,656,872
Ensembl chr20:47,501,887...47,656,877
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| G |
NDUFB6 |
NADH:ubiquinone oxidoreductase subunit B6 |
|
ISO |
mRNA:decreased expression:epididymal fat pad |
RGD |
PMID:20559011 |
RGD:13822707 |
NCBI chr 9:32,553,001...32,573,159
Ensembl chr 9:32,553,001...32,573,184
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| G |
NEGR1 |
neuronal growth regulator 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079261 |
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NCBI chr 1:71,395,943...72,282,539
Ensembl chr 1:71,395,943...72,282,539
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| G |
NEIL1 |
nei like DNA glycosylase 1 |
|
EXP
ISS |
CTD Direct Evidence: marker/mechanism
OMIM:601665 |
CTD
MouseDO |
PMID:16446448 PMID:21285402 |
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NCBI chr15:75,347,039...75,357,115
Ensembl chr15:75,346,955...75,357,115
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| G |
NEUROD1 |
neuronal differentiation 1 |
|
IEP |
mRNA:increased expression:pancreas |
RGD |
PMID:15979049 |
RGD:1625044 |
NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827
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| G |
NFE2L2 |
NFE2 like bZIP transcription factor 2 |
|
ISO
IEP |
protein:decreased expression:liver macrophage:
protein:decreased expression:hepatocyte: |
RGD |
PMID:32102936 PMID:32102936 |
RGD:21201281, RGD:21201281 |
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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| G |
NHLH2 |
nescient helix-loop-helix 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20808804 |
|
NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917
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| G |
NMB |
neuromedin B |
susceptibility |
IAGP |
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:11194934 PMID:15585758 |
RGD:1642062, RGD:1642059 |
NCBI chr15:84,655,132...84,658,199
Ensembl chr15:84,655,129...84,658,563
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|
| G |
NMU |
neuromedin U |
susceptibility |
IAGP
ISO |
DNA:polymorphisms:cds:p.R165W,p.A19E |
RGD |
PMID:16984985 PMID:15448684 PMID:17706946 |
RGD:1642094, RGD:1642095, RGD:1642093 |
NCBI chr 4:55,595,231...55,636,793
Ensembl chr 4:55,595,229...55,636,698
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| G |
NNT |
nicotinamide nucleotide transhydrogenase |
|
ISO |
protein:decreased expression:gastrocnemius, soleus |
RGD |
PMID:25761734 |
RGD:13513980 |
NCBI chr 5:43,602,675...43,707,396
Ensembl chr 5:43,602,692...43,707,405
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| G |
NOS1 |
nitric oxide synthase 1 |
|
ISO |
|
RGD |
PMID:16316351 |
RGD:1642132 |
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
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| G |
NOS2 |
nitric oxide synthase 2 |
|
IEP
ISO |
protein:increased expression:sputum
protein:increased expression:liver, gastrocnemius muscle, adipose tissue (mouse) |
RGD |
PMID:18098375 PMID:21896669 |
RGD:4891935, RGD:5509059 |
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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|
| G |
NOS3 |
nitric oxide synthase 3 |
treatment |
ISO |
protein:decreased expression:artery |
RGD |
PMID:17623751 PMID:29180887 |
RGD:2292133, RGD:13504728 |
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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| G |
NOX4 |
NADPH oxidase 4 |
treatment |
ISO |
|
RGD |
PMID:30298849 |
RGD:401960083 |
NCBI chr11:89,324,353...89,589,557
Ensembl chr11:89,324,353...89,498,187
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| G |
NPC1 |
NPC intracellular cholesterol transporter 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19151714 |
|
NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506
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| G |
NPPA |
natriuretic peptide A |
|
IEP |
associated with Heart Failure; |
RGD |
PMID:23566312 |
RGD:7247714 |
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
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|
| G |
NPPB |
natriuretic peptide B |
treatment |
IDA
ISO |
associated with Diabetes Mellitus, Type 2
mRNA:decreased expression:heart
associated with hypoxia; protein:increased expression:blood serum (rat) |
RGD |
PMID:21959345 PMID:24009719 PMID:33310031 |
RGD:5685647, RGD:7327171, RGD:329955450 |
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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| G |
NPY |
neuropeptide Y |
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ISO |
mRNA, protein:increased expression:hypothalamus |
RGD |
PMID:17447163 |
RGD:10448938 |
NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
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| G |
NPY1R |
neuropeptide Y receptor Y1 |
susceptibility |
ISO
EXP
ISS |
associated with Hyperinsulinemia
mRNA:increased expression:hypothalamus
CTD Direct Evidence: marker/mechanism
OMIM:601665 |
CTD
MouseDO
RGD |
PMID:20975297 PMID:9861026 PMID:17447163 |
RGD:1642306, RGD:10448938 |
NCBI chr 4:163,323,962...163,344,689
Ensembl chr 4:163,323,962...163,344,832
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| G |
NPY2R |
neuropeptide Y receptor Y2 |
|
IAGP
ISO |
DNA:SNP:promoter:−4448C>A, NCBI refSNP ID=rs12649641; Danish white subjects
mRNA:increased expression:hypothalamus |
RGD |
PMID:17019604 PMID:17447163 |
RGD:1642379, RGD:10448938 |
NCBI chr 4:155,173,723...155,217,076
Ensembl chr 4:155,208,636...155,217,078
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| G |
NPY5R |
neuropeptide Y receptor Y5 |
susceptibility |
IAGP
IEA
ISO
EXP |
DNA:polymorphisms
mRNA:increased expression:hypothalamus
CTD Direct Evidence: marker/mechanism
DNA:SNP:utr (Y5R1c52) (human) |
CTD
RGD |
PMID:10849579 PMID:10849579 PMID:15118671 PMID:17447163 PMID:23900445 |
RGD:1625493, RGD:1331525, RGD:10448938, RGD:405650675 |
NCBI chr 4:163,343,892...163,352,403
Ensembl chr 4:163,343,892...163,351,934
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| G |
NQO1 |
NAD(P)H quinone dehydrogenase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17405841 |
|
NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
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| G |
NR0B2 |
nuclear receptor subfamily 0 group B member 2 |
|
IAGP
EXP |
ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by term: NR0B2-related condition
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity, mild, early-onset
ClinVar Annotator: match by term: NR0B2-related condition | ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: NR0B2-related condition | ClinVar Annotator: match by term: Obesity |
OMIM
ClinVar
CTD
RGD |
PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510 PMID:11136233 More...
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RGD:1600912 |
NCBI chr 1:26,911,489...26,913,975
Ensembl chr 1:26,911,489...26,913,975
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| G |
NR1H2 |
nuclear receptor subfamily 1 group H member 2 |
disease_progression |
IAGP
ISO |
DNA:polymorphism:multiple
mRNA:increased expression:liver (rat) |
RGD |
PMID:17108812 PMID:20939869 PMID:25612518 |
RGD:1626248, RGD:13506790, RGD:15045599 |
NCBI chr19:50,376,457...50,383,388
Ensembl chr19:50,329,653...50,383,388
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| G |
NR1H3 |
nuclear receptor subfamily 1 group H member 3 |
disease_progression |
IAGP
ISO |
DNA:polymorphism:multiple
mRNA:increased expression:liver (rat) |
RGD |
PMID:17108812 PMID:25612518 |
RGD:1626248, RGD:15045599 |
NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033
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| G |
NR1H4 |
nuclear receptor subfamily 1 group H member 4 |
disease_progression |
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:25612518 |
RGD:15045599 |
NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
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| G |
NR1I2 |
nuclear receptor subfamily 1 group I member 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20869355 |
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NCBI chr 3:119,782,101...119,818,487
Ensembl chr 3:119,780,484...119,818,487
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| G |
NR1I3 |
nuclear receptor subfamily 1 group I member 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20869355 |
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NCBI chr 1:161,229,669...161,238,203
Ensembl chr 1:161,229,666...161,238,244
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| G |
NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
no_association |
ISO
IAGP
IEA |
protein:polymorphism:N363S
associated with Depressive Disorder, Major;DNA:SNP:intron:IVS2+646C>G (human) |
RGD
GAD |
PMID:20723946 PMID:16725041 PMID:15118671 PMID:18246526 |
RGD:4892206, RGD:1601498, RGD:1331525, RGD:7174717 |
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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| G |
NR3C2 |
nuclear receptor subfamily 3 group C member 2 |
treatment |
ISO |
|
RGD |
PMID:30298849 |
RGD:401960083 |
NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698
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| G |
NRF1 |
nuclear respiratory factor 1 |
treatment |
ISO |
mRNA:decreased expression:left ventricle myocardium (rat) |
RGD |
PMID:33310031 |
RGD:329955450 |
NCBI chr 7:129,611,720...129,757,076
Ensembl chr 7:129,611,720...129,757,082
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| G |
NRXN1 |
neurexin 1 |
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IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:49,918,503...51,032,132
Ensembl chr 2:49,918,503...51,225,575
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| G |
NTRK2 |
neurotrophic receptor tyrosine kinase 2 |
|
EXP
IAGP |
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity |
CTD
ClinVar |
PMID:15494731 |
|
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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| G |
NUCB2 |
nucleobindin 2 |
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ISO |
protein:increased expression:adipose tissue: |
RGD |
PMID:22641054 |
RGD:9831187 |
NCBI chr11:17,276,739...17,349,980
Ensembl chr11:17,208,153...17,349,980
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| G |
NUDC |
nuclear distribution C, dynein complex regulator |
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IAGP |
ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by term: NR0B2-related condition
ClinVar Annotator: match by term: Obesity, mild, early-onset
ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by term: NR0B2-related condition | ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: NR0B2-related condition | ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:11136233 PMID:20233523 PMID:25741868 PMID:28492532 PMID:33094510 |
|
NCBI chr 1:26,900,161...26,946,871
Ensembl chr 1:26,900,238...26,946,871
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| G |
OGG1 |
8-oxoguanine DNA glycosylase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29709520 |
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NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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| G |
OPRM1 |
opioid receptor mu 1 |
treatment |
ISO
IDA |
DNA, mRNA:hypermethylation, increased expression:promoter, hypothalamus
DNA:hypermethylation:promoter, peripheral blood mononuclear cell |
RGD |
PMID:31258545 PMID:31258545 PMID:16876155 |
RGD:401827956, RGD:401827956, RGD:401842391 |
NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867
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| G |
OTC |
ornithine transcarbamylase |
|
ISO |
protein:increased activity:liver (rat) |
RGD |
PMID:1330956 |
RGD:4144087 |
NCBI chr X:38,327,684...38,422,928
Ensembl chr X:38,327,598...38,422,908
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| G |
OXCT1 |
3-oxoacid CoA-transferase 1 |
|
ISO |
mRNA:decreased expression:thalamus (rat) |
RGD |
PMID:19219059 |
RGD:2326191 |
NCBI chr 5:41,730,065...41,870,425
Ensembl chr 5:41,730,065...41,870,425
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| G |
PACS1 |
phosphofurin acidic cluster sorting protein 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23563609 |
|
NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744
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| G |
PARP1 |
poly(ADP-ribose) polymerase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20561897 |
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NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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| G |
PAX8 |
paired box 8 |
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IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921
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| G |
PCK1 |
phosphoenolpyruvate carboxykinase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
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| G |
PCSK1 |
proprotein convertase subtilisin/kexin type 1 |
|
TAS
IAGP
EXP
ISS |
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity
OMIM:601665 |
CTD
ClinVar
MouseDO
RGD |
PMID:18604207 PMID:25741868 PMID:28492532 PMID:15189116 PMID:9207799 |
RGD:1357925, RGD:1601274 |
NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
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| G |
PCSK1N |
proprotein convertase subtilisin/kexin type 1 inhibitor |
|
ISO |
protein:increased expression:brainstem |
RGD |
PMID:11680901 PMID:15012590 |
RGD:1642351, RGD:1642350 |
NCBI chr X:48,831,096...48,835,610
Ensembl chr X:48,831,096...48,835,610
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| G |
PDE3A |
phosphodiesterase 3A |
|
ISO |
mRNA:decreased expression:heart |
RGD |
PMID:9648839 |
RGD:2300415 |
NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583
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| G |
PDE9A |
phosphodiesterase 9A |
treatment |
ISO |
|
RGD |
PMID:34618683 |
RGD:242170038 |
NCBI chr21:42,653,621...42,775,509
Ensembl chr21:42,653,621...42,775,509
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| G |
PDP1 |
pyruvate dehydrogenase phosphatase catalytic subunit 1 |
|
IDA |
protein:decreased activity:circulating lymphocytes |
RGD |
PMID:15897476 |
RGD:1642637 |
NCBI chr 8:93,916,923...93,926,068
Ensembl chr 8:93,857,807...93,926,068
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| G |
PDX1 |
pancreatic and duodenal homeobox 1 |
|
IEP |
mRNA:increased expression:exocrine pancreas (human) |
RGD |
PMID:15979049 |
RGD:1625044 |
NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313
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| G |
PEX11A |
peroxisomal biogenesis factor 11 alpha |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30585412 |
|
NCBI chr15:89,681,535...89,690,754
Ensembl chr15:89,677,764...89,690,783
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| G |
PFKFB3 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr10:6,144,921...6,326,637
Ensembl chr10:6,144,934...6,254,644
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| G |
PGF |
placental growth factor |
|
ISO
IEP |
associated with Pre-eclampsia;protein:increased expression:serum
associated with pancreatic cancer;protein:increased expression:plasma (human) |
RGD |
PMID:16020476 PMID:16769024 PMID:26861455 |
RGD:1642385, RGD:1642384, RGD:14349030 |
NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
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| G |
PGR |
progesterone receptor |
|
IAGP |
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 chr11:101,029,624...101,129,813
Ensembl chr11:101,029,624...101,129,813
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| G |
PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
|
ISO |
|
RGD |
PMID:21949398 |
RGD:6482700 |
NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
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| G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
protein:decreased tyrosine phosphorylation:skeletal muscle, liver
protein:decreased expression:soleus |
RGD |
PMID:9399964 PMID:16123202 |
RGD:1625218, RGD:1625220 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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| G |
PKLR |
pyruvate kinase L/R |
|
ISO |
mRNA, protein:decreased expression:liver |
RGD |
PMID:12958186 |
RGD:1625583 |
NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438
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| G |
PLAT |
plasminogen activator, tissue type |
|
IEP |
|
RGD |
PMID:12818410 |
RGD:2311677 |
NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
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|
| G |
PLAUR |
plasminogen activator, urokinase receptor |
|
IEP |
|
RGD |
PMID:21372607 |
RGD:6484121 |
NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
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|
| G |
PLIN1 |
perilipin 1 |
susceptibility |
IAGP
ISO
EXP |
DNA:snp:intron:g.11482G>A (human)
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:15001633 PMID:15985482 PMID:11371650 |
RGD:1581041, RGD:737723 |
NCBI chr15:89,664,367...89,679,367
Ensembl chr15:89,664,367...89,679,427
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| G |
PLSCR3 |
phospholipid scramblase 3 |
|
ISS |
OMIM:601665 |
MouseDO |
|
|
NCBI chr17:7,389,727...7,394,525
Ensembl chr17:7,389,727...7,394,842
|
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| G |
PMCH |
pro-melanin concentrating hormone |
|
ISO
EXP |
associated with Hyperphagia;protein:increased expression:hypothalamus
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:12355323 PMID:15363890 PMID:12453827 |
RGD:1624360, RGD:1642486 |
NCBI chr12:102,196,459...102,197,833
Ensembl chr12:102,196,459...102,197,833
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|
| G |
PNLIP |
pancreatic lipase |
susceptibility |
ISO |
|
RGD |
PMID:15883013 |
RGD:1358859 |
NCBI chr10:116,545,931...116,567,855
Ensembl chr10:116,545,931...116,567,855
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|
| G |
PNPLA3 |
patatin like phospholipase domain containing 3 |
|
ISO |
|
RGD |
PMID:11431482 |
RGD:14985224 |
NCBI chr22:43,923,805...43,947,582
Ensembl chr22:43,923,792...43,964,488
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| G |
POGZ |
pogo transposable element derived with ZNF domain |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
|
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| G |
POMC |
proopiomelanocortin |
|
IAGP
EXP
ISS
ISO |
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by term: Monogenic Obesity
OMIM:601665
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
DNA:deletions:exons |
CTD
ClinVar
MouseDO
OMIM
RGD |
PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 PMID:12165561 PMID:14557433 PMID:16289378 PMID:16459314 PMID:18091355 PMID:18697863 PMID:19153526 PMID:19221669 PMID:20349035 PMID:23293326 PMID:23649472 PMID:25741868 PMID:27906547 PMID:28492532 PMID:29970488 PMID:35574020 PMID:15189116 PMID:35343586 More...
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RGD:1357925, RGD:406192936 |
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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| G |
PON2 |
paraoxonase 2 |
|
ISO |
protein:increased expression:white adipose tissue |
RGD |
PMID:21365757 |
RGD:8661255 |
NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
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|
| G |
PPARA |
peroxisome proliferator activated receptor alpha |
treatment |
EXP
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 chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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|
| G |
PPARD |
peroxisome proliferator activated receptor delta |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16168052 PMID:20176998 |
|
NCBI chr 6:35,342,558...35,428,178
Ensembl chr 6:35,342,558...35,428,191
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|
| G |
PPARG |
peroxisome proliferator activated receptor gamma |
susceptibility
treatment |
IAGP
ISO
IEA
EXP |
DNA:point mutation:exon:P115Q
mRNA:decreased expression:retroperitoneal fat pad
DNA:polymorphism
mRNA:increased expression:adipose tissue
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity |
OMIM
CTD
ClinVar
RGD |
PMID:9467001 PMID:9792554 PMID:10381354 PMID:10523018 PMID:10690291 PMID:10851250 PMID:11089532 PMID:14569127 PMID:14616762 PMID:14671186 PMID:25741868 PMID:28242765 PMID:28492532 PMID:9753710 PMID:18427128 PMID:18683148 PMID:18457007 PMID:15118671 PMID:30298849 More...
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RGD:1601443, RGD:2301859, RGD:2301847, RGD:2301884, RGD:1331525, RGD:401960083 |
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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|
| G |
PPARGC1A |
PPARG coactivator 1 alpha |
treatment |
ISO |
mRNA:increased expression:retroperitoneal fat pad (rat)
mRNA:decreased expression:left ventricle myocardium (rat) |
RGD |
PMID:23256146 PMID:23180161 PMID:22401878 PMID:33310031 |
RGD:7241848, RGD:7242011, RGD:7242183, RGD:329955450 |
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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|
| G |
PPARGC1B |
PPARG coactivator 1 beta |
resistance |
IAGP
EXP |
DNA:polymorphism: :p.A203P
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity, variation in |
CTD
ClinVar
RGD |
PMID:15863669 PMID:30738174 PMID:15863669 |
RGD:1642501 |
NCBI chr 5:149,730,310...149,857,959
Ensembl chr 5:149,730,298...149,855,022
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| G |
PPIA |
peptidylprolyl isomerase A |
|
HEP |
mRNA:increased expression:blood (human) |
RGD |
PMID:32496587 |
RGD:150383342 |
NCBI chr 7:44,796,681...44,803,117
Ensembl chr 7:44,796,680...44,824,564
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| G |
PPM1L |
protein phosphatase, Mg2+/Mn2+ dependent 1L |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18344982 |
|
NCBI chr 3:160,756,231...161,078,902
Ensembl chr 3:160,755,602...161,078,902
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|
| G |
PRG2 |
proteoglycan 2, pro eosinophil major basic protein |
|
HEP |
mRNA:decreased expression:placenta (human) |
RGD |
PMID:28125591 |
RGD:40902990 |
NCBI chr11:57,386,780...57,390,650
Ensembl chr11:57,386,780...57,390,650
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|
| G |
PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29367455 |
|
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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| G |
PRKAR2B |
protein kinase cAMP-dependent type II regulatory subunit beta |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20975297 |
|
NCBI chr 7:107,044,705...107,161,811
Ensembl chr 7:107,044,705...107,161,811
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| G |
PRKCB |
protein kinase C beta |
|
ISO |
mRNA, protein:increased expression:mononuclear cell |
RGD |
PMID:17180352 |
RGD:1625512 |
NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
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| G |
PRKCD |
protein kinase C delta |
|
ISO |
protein:decreased expression:heart ventricle |
RGD |
PMID:11478406 |
RGD:1642533 |
NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
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|
| G |
PRKCH |
protein kinase C eta |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23563609 |
|
NCBI chr14:61,187,468...61,550,976
Ensembl chr14:61,187,559...61,550,976
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| G |
PRKCI |
protein kinase C iota |
|
ISS |
OMIM:601665 |
MouseDO |
|
|
NCBI chr 3:170,222,424...170,305,977
Ensembl chr 3:170,222,424...170,305,977
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| G |
PRKG1 |
protein kinase cGMP-dependent 1 |
|
ISO |
protein:increased expression:kidney, glomerulus |
RGD |
PMID:23454089 |
RGD:7777114 |
NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
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| G |
PRL |
prolactin |
|
IEP |
|
RGD |
PMID:8388614 |
RGD:1642559 |
NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
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|
| G |
PRLH |
prolactin releasing hormone |
|
ISO
ISS |
OMIM:601665 |
MouseDO
RGD |
PMID:15854142 |
RGD:1641829 |
NCBI chr 2:237,566,574...237,567,175
Ensembl chr 2:237,566,574...237,567,175
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|
| G |
PRLHR |
prolactin releasing hormone receptor |
|
ISO |
|
RGD |
PMID:15854142 |
RGD:1641829 |
NCBI chr10:118,589,997...118,595,648
Ensembl chr10:118,589,997...118,595,648
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|
| G |
PRMT7 |
protein arginine methyltransferase 7 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 |
|
NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852
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| G |
PROX1 |
prospero homeobox 1 |
|
ISS |
OMIM:601665 |
MouseDO |
|
|
NCBI chr 1:213,983,151...214,041,510
Ensembl chr 1:213,983,181...214,041,510
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| G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO
EXP |
protein:increased expression:liver
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:21156398 PMID:21978752 |
RGD:5508307 |
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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| G |
PTPN1 |
protein tyrosine phosphatase non-receptor type 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10744717 PMID:20075852 |
|
NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241
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| G |
PTPRF |
protein tyrosine phosphatase receptor type F |
|
IEP
ISO |
protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05)
protein:increased expression, increased activity:subcutaneous adipose tissue:2.03-fold higher activity in obese than lean individuals (P < 0.001) |
RGD |
PMID:9218523 PMID:7769120 PMID:7666792 |
RGD:1642733, RGD:1642727, RGD:1642732 |
NCBI chr 1:43,522,051...43,623,666
Ensembl chr 1:43,525,187...43,623,666
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| G |
PYY |
peptide YY |
|
IAGP
EXP |
ClinVar Annotator: match by term: Obesity
CTD Direct Evidence: marker/mechanism |
ClinVar
CTD |
PMID:10898754 PMID:11825645 PMID:16368708 |
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NCBI chr17:43,952,733...44,004,445
Ensembl chr17:43,952,733...44,004,469
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| G |
RAB21 |
RAB21, member RAS oncogene family |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
|
NCBI chr12:71,754,863...71,800,286
Ensembl chr12:71,754,863...71,800,286
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|
| G |
RAI1 |
retinoic acid induced 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15459175 PMID:19116176 |
|
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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|
| G |
RAPGEF3 |
Rap guanine nucleotide exchange factor 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
|
NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040
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| G |
RARRES2 |
retinoic acid receptor responder 2 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:31284705 PMID:30873215 |
RGD:15036824, RGD:15036825 |
NCBI chr 7:150,338,329...150,341,629
Ensembl chr 7:150,338,317...150,341,662
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|
| G |
RB1 |
RB transcriptional corepressor 1 |
|
IEP |
mRNA:decreased expression:adipose tissue |
RGD |
PMID:23315497 |
RGD:8547988 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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|
| G |
RBP4 |
retinol binding protein 4 |
disease_progression
ameliorates |
ISO
IEP |
mRNA, protein:decreased expression:adipose tissue, serum
protein:increased expression:blood serum (human) |
RGD |
PMID:18401839 PMID:17292720 PMID:21585349 |
RGD:2302016, RGD:329845862, RGD:329853312 |
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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| G |
RELA |
RELA proto-oncogene, NF-kB subunit |
|
IEP |
|
RGD |
PMID:18356846 |
RGD:2298856 |
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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|
| G |
REN |
renin |
|
IEP |
mRNA:increased expression:abdomen, subcutaneous adipose tissue, mesenchymal stem cell (human) |
RGD |
PMID:22648117 |
RGD:6784503 |
NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
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|
| G |
RETN |
resistin |
|
IEP
IAGP
ISO |
mRNA, protein:increased expression:subcutaneous adipose tissue, serum
DNA:SNP:promoter:-420C>G (human) |
RGD |
PMID:22816026 PMID:17598818 PMID:11201732 |
RGD:7207072, RGD:7207155, RGD:7207158 |
NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
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|
| G |
RHOA |
ras homolog family member A |
|
ISO |
protein:increased expression:membrane, aorta, skeletal muscle |
RGD |
PMID:16267124 |
RGD:2298881 |
NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
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|
| G |
RMST |
rhabdomyosarcoma 2 associated transcript |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23563609 |
|
NCBI chr12:97,462,804...97,565,035
Ensembl chr12:97,430,884...97,598,415
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|
| G |
RPS6KB1 |
ribosomal protein S6 kinase B1 |
|
ISO |
protein:increased phosphorylation:skeletal muscle |
RGD |
PMID:15604215 |
RGD:1642978 |
NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574
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|
| G |
RSC1A1 |
regulator of solute carriers 1 |
|
ISS |
OMIM:601665 |
MouseDO |
|
|
NCBI chr 1:15,659,713...15,662,033
Ensembl chr 1:15,659,713...15,662,033
|
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| G |
RSRC2 |
arginine and serine rich coiled-coil 2 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr12:122,503,454...122,526,936
Ensembl chr12:122,503,454...122,527,000
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|
| G |
RXRA |
retinoid X receptor alpha |
susceptibility |
ISO |
|
RGD |
PMID:15936932 |
RGD:1643104 |
NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585
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|
| G |
RYR1 |
ryanodine receptor 1 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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|
| G |
SAT1 |
spermidine/spermine N1-acetyltransferase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr X:23,783,173...23,786,210
Ensembl chr X:23,783,173...23,786,210
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|
| G |
SCAPER |
S-phase cyclin A associated protein in the ER |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:30723319 |
|
NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
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| G |
SDC1 |
syndecan 1 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:11522680 PMID:15189116 |
RGD:1643129, RGD:1357925 |
NCBI chr 2:20,200,797...20,225,475
Ensembl chr 2:20,200,797...20,225,433
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| G |
SDC3 |
syndecan 3 |
|
IAGP
EXP |
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity, association with |
OMIM
CTD
ClinVar |
PMID:17018662 |
|
NCBI chr 1:30,869,466...30,909,735
Ensembl chr 1:30,869,466...30,908,758
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| G |
SELP |
selectin P |
|
IEP |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:altered localization:platelet |
RGD |
PMID:19228864 |
RGD:2312291 |
NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
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|
| G |
SERPINA12 |
serpin family A member 12 |
treatment |
ISO |
|
RGD |
PMID:16030142 |
RGD:1547845 |
NCBI chr14:94,487,279...94,517,844
Ensembl chr14:94,487,274...94,517,844
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|
| G |
SERPINE1 |
serpin family E member 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23819014 |
|
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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|
| G |
SERPINF1 |
serpin family F member 1 |
|
IDA
ISO |
protein:increased expression:serum (rat) |
RGD |
PMID:17491674 PMID:24424059 |
RGD:2312347, RGD:8633067 |
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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|
| G |
SFTPA1 |
surfactant protein A1 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:15136884 |
RGD:4143472 |
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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|
| G |
SFTPB |
surfactant protein B |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:15136884 |
RGD:4143472 |
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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|
| G |
SH2B1 |
SH2B adaptor protein 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079261 |
|
NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
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|
| G |
SIM1 |
SIM bHLH transcription factor 1 |
|
IAGP
ISS |
DNA:translocation
OMIM:601665
ClinVar Annotator: match by term: SIM1-related condition
ClinVar Annotator: match by term: Obesity due to SIM1 deficiency
ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition |
MouseDO
ClinVar
RGD |
PMID:2152513 PMID:16924270 PMID:19401419 PMID:21512513 PMID:23778136 PMID:23778139 PMID:24097297 PMID:25234154 PMID:25741868 PMID:26795956 PMID:28492532 PMID:29216354 PMID:30991789 PMID:33434169 PMID:10587584 More...
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RGD:1624165 |
NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921
|
|
| G |
SIM1-AS1 |
SIM1 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Obesity due to SIM1 deficiency
ClinVar Annotator: match by term: SIM1-related condition |
ClinVar |
PMID:19401419 PMID:21512513 PMID:25741868 PMID:26795956 PMID:28492532 |
|
NCBI chr 6:100,393,486...100,444,796
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|
| G |
SIRT1 |
sirtuin 1 |
treatment |
ISO
EXP |
protein:decreased expression:ovary
CTD Direct Evidence: therapeutic |
CTD
RGD |
PMID:24184811 PMID:24773342 PMID:24135502 |
RGD:9585762, RGD:9586064 |
NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
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|
| G |
SIRT3 |
sirtuin 3 |
|
ISO
EXP |
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:23956348 PMID:21901160 |
RGD:9586047 |
NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931
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|
| G |
SIRT6 |
sirtuin 6 |
|
ISO |
protein:decreased expression:ovary |
RGD |
PMID:24135502 |
RGD:9586064 |
NCBI chr19:4,174,109...4,182,563
Ensembl chr19:4,174,109...4,182,566
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|
| G |
SLC10A1 |
solute carrier family 10 member 1 |
disease_progression |
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:25612518 |
RGD:15045599 |
NCBI chr14:69,775,416...69,797,241
Ensembl chr14:69,775,416...69,797,241
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|
| G |
SLC16A7 |
solute carrier family 16 member 7 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr12:59,596,029...59,789,841
Ensembl chr12:59,596,029...59,789,855
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|
| G |
SLC22A1 |
solute carrier family 22 member 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20956498 |
|
NCBI chr 6:160,121,815...160,158,718
Ensembl chr 6:160,121,815...160,158,718
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|
| G |
SLC22A2 |
solute carrier family 22 member 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27401566 |
|
NCBI chr 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638
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|
| G |
SLC22A3 |
solute carrier family 22 member 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27401566 |
|
NCBI chr 6:160,348,378...160,452,577
Ensembl chr 6:160,348,378...160,452,577
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|
| G |
SLC27A1 |
solute carrier family 27 member 1 |
susceptibility |
ISO |
protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle |
RGD |
PMID:15281014 PMID:16611988 |
RGD:1642794, RGD:1642790 |
NCBI chr19:17,468,767...17,506,168
Ensembl chr19:17,468,769...17,506,168
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|
| G |
SLC27A4 |
solute carrier family 27 member 4 |
|
IEP |
mRNA:increased expression:subcutaneous adipose tissue |
RGD |
PMID:15168018 |
RGD:1625638 |
NCBI chr 9:128,340,527...128,361,470
Ensembl chr 9:128,340,527...128,361,470
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|
| G |
SLC2A1 |
solute carrier family 2 member 1 |
treatment |
IDA |
associated with Polycystic Ovary Syndrome |
RGD |
PMID:24842895 |
RGD:12879503 |
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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|
| G |
SLC32A1 |
solute carrier family 32 member 1 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
|
NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372
|
|
| G |
SLC6A1 |
solute carrier family 6 member 1 |
|
ISO |
|
RGD |
PMID:11191352 |
RGD:1643191 |
NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247
|
|
| G |
SLC6A14 |
solute carrier family 6 member 14 |
susceptibility |
IAGP |
DNA:SNPs |
RGD |
PMID:15331564 |
RGD:1625271 |
NCBI chr X:116,436,606...116,461,458
Ensembl chr X:116,436,606...116,461,458
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|
| G |
SLC6A3 |
solute carrier family 6 member 3 |
susceptibility
no_association |
IAGP |
DNA:polymorphism |
RGD |
PMID:12490667 PMID:16674552 |
RGD:1625655, RGD:1625653 |
NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
|
|
| G |
SLC9A3 |
solute carrier family 9 member A3 |
|
ISO |
protein:decreased expression:kidney cortex |
RGD |
PMID:16757903 |
RGD:1625672 |
NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
|
|
| G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
|
|
| G |
SNAP25 |
synaptosome associated protein 25 |
|
ISS |
OMIM:601665 |
MouseDO |
|
|
NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258
|
|
| G |
SOCS1 |
suppressor of cytokine signaling 1 |
|
ISO |
mRNA, protein:increased expression:white fat |
RGD |
PMID:11027633 |
RGD:2298920 |
NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
|
|
| G |
SOCS3 |
suppressor of cytokine signaling 3 |
|
ISO
IEP
IAGP |
mRNA, protein:increased expression:white fat
mRNA:decreased expression:subcutaneous adipose tissue
mRNA:altered expression:skeletal muscle, subcutaneous adipose tissue
DNA:SNP:utr (rs4969170) (human) |
RGD |
PMID:11027633 PMID:16920065 PMID:15331532 PMID:23900445 |
RGD:2298920, RGD:1625676, RGD:2313790, RGD:405650675 |
NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
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|
| G |
SOD1 |
superoxide dismutase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24042701 |
|
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
|
|
| G |
SOD2 |
superoxide dismutase 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16317704 PMID:23956348 PMID:30738174 |
|
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
|
|
| G |
SORBS1 |
sorbin and SH3 domain containing 1 |
|
IAGP |
DNA:SNP: :p.T228A (human) |
RGD |
PMID:11532984 |
RGD:1642744 |
NCBI chr10:95,311,773...95,561,371
Ensembl chr10:95,311,771...95,561,414
|
|
| G |
SPARC |
secreted protein acidic and cysteine rich |
|
ISO |
mRNA:increased expression:adipose tissue |
RGD |
PMID:11294850 |
RGD:2300062 |
NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
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|
| G |
SQLE |
squalene epoxidase |
|
ISO |
|
RGD |
PMID:15556298 |
RGD:1581399 |
NCBI chr 8:124,998,505...125,022,283
Ensembl chr 8:124,998,497...125,022,283
|
|
| G |
SRD5A1 |
steroid 5 alpha-reductase 1 |
|
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:20098742 |
RGD:4891511 |
NCBI chr 5:6,633,440...6,674,386
Ensembl chr 5:6,633,290...6,676,539
|
|
| G |
SREBF1 |
sterol regulatory element binding transcription factor 1 |
|
EXP
IAGP |
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity |
CTD
ClinVar |
PMID:10900012 PMID:25741868 |
|
NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
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|
| G |
SREBF2 |
sterol regulatory element binding transcription factor 2 |
|
ISO |
protein:increased expression:fat cell, nucleus |
RGD |
PMID:9786926 |
RGD:2308843 |
NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,105...41,907,306
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|
| G |
STAT3 |
signal transducer and activator of transcription 3 |
|
ISO
IAGP |
protein:decreased phosphorylation:hypothalamus
DNA:SNP:rs4796793 (human) |
RGD |
PMID:23397595 PMID:23900445 |
RGD:10411893, RGD:405650675 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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|
| G |
STAT4 |
signal transducer and activator of transcription 4 |
treatment |
ISO |
|
RGD |
PMID:20978234 |
RGD:5509594 |
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
|
|
| G |
STK11 |
serine/threonine kinase 11 |
|
ISO |
protein:decreased expression:gastrocnemius |
RGD |
PMID:16352671 |
RGD:1601389 |
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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|
| G |
STS |
steroid sulfatase |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24497646 |
|
NCBI chr X:7,147,290...7,354,641
Ensembl chr X:7,147,237...7,804,358
|
|
| G |
SUCLA2 |
succinate-CoA ligase ADP-forming subunit beta |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968
|
|
| G |
SUCLG2 |
succinate-CoA ligase GDP-forming subunit beta |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr 3:67,360,460...67,654,612
Ensembl chr 3:67,360,460...67,654,612
|
|
| G |
SZT2 |
SZT2 subunit of KICSTOR complex |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247
|
|
| G |
SZT2-AS1 |
SZT2 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:43,447,776...43,448,644
Ensembl chr 1:43,447,776...43,448,644
|
|
| G |
TBC1D1 |
TBC1 domain family member 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16893906 PMID:18325908 PMID:18931681 |
|
NCBI chr 4:37,891,084...38,139,173
Ensembl chr 4:37,891,084...38,139,175
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|
| G |
TBX3 |
T-box transcription factor 3 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
|
|
| G |
TBXA2R |
thromboxane A2 receptor |
|
ISO |
mRNA:increased expression:carotid artery |
RGD |
PMID:12409963 |
RGD:1601447 |
NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875
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|
| G |
TF |
transferrin |
|
ISO
EXP |
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:20882379 PMID:16267817 |
RGD:1601520 |
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
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|
| G |
TFAM |
transcription factor A, mitochondrial |
treatment |
IEP
ISO |
mRNA:decreased expression:left ventricle myocardium (rat) |
RGD |
PMID:21862610 PMID:33310031 |
RGD:5683906, RGD:329955450 |
NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220
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|
| G |
TFRC |
transferrin receptor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17062801 PMID:20882379 |
|
NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
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|
| G |
TGFB1 |
transforming growth factor beta 1 |
severity |
IEP
ISO |
protein:increased expression:adipose tissue
protein:increased expression:platelet
associated with hypertension;protein:increased expression:blood |
RGD |
PMID:16253647 PMID:16477387 PMID:15944724 |
RGD:1601563, RGD:1601561, RGD:1601579 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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|
| G |
TH |
tyrosine hydroxylase |
resistance |
IAGP |
DNA:polymorphism:intron:g.1170_1173dupTCAT (human) |
RGD |
PMID:16251897 |
RGD:1601632 |
NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
|
|
| G |
THBD |
thrombomodulin |
severity |
IEP |
protein:increased expression:plasma |
RGD |
PMID:16651309 |
RGD:1601640 |
NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
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|
| G |
THBS1 |
thrombospondin 1 |
|
IEP |
mRNA,protein:increased expression:mononuclear cell, adipose tissue: |
RGD |
PMID:24086512 |
RGD:9681453 |
NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466
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|
| G |
TIMP1 |
TIMP metallopeptidase inhibitor 1 |
|
IEP |
protein:increased expression:plasma |
RGD |
PMID:17512313 |
RGD:1642026 |
NCBI chr X:47,582,436...47,586,789
Ensembl chr X:47,582,408...47,586,789
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|
| G |
TLR2 |
toll like receptor 2 |
|
ISO |
|
RGD |
PMID:18787058 |
RGD:2312681 |
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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|
| G |
TLR4 |
toll like receptor 4 |
susceptibility |
ISO |
|
RGD |
PMID:19144836 PMID:19144836 PMID:17053832 |
RGD:2312510, RGD:2312510, RGD:1620653 |
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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|
| G |
TMEM18 |
transmembrane protein 18 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079261 |
|
NCBI chr 2:663,877...677,406
Ensembl chr 2:663,877...677,406
|
|
| G |
TNF |
tumor necrosis factor |
treatment |
ISO
IEP
EXP |
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:9502777 PMID:11328671 PMID:20141834 PMID:29035695 PMID:24146106 PMID:28843383 More...
|
RGD:10450599, RGD:14975146 |
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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|
| G |
TNFRSF1A |
TNF receptor superfamily member 1A |
|
IEP |
protein:increased expression:serum |
RGD |
PMID:12935365 |
RGD:1624179 |
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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|
| G |
TNFRSF1B |
TNF receptor superfamily member 1B |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11782876 |
|
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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|
| G |
TRPV1 |
transient receptor potential cation channel subfamily V member 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17347480 |
|
NCBI chr17:3,565,446...3,609,411
Ensembl chr17:3,565,444...3,609,411
|
|
| G |
TSC1 |
TSC complex subunit 1 |
|
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:25807795 |
RGD:11570513 |
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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|
| G |
TUB |
TUB bipartite transcription factor |
susceptibility
no_association |
ISO
IAGP
ISS |
DNA:splice-site mutation
OMIM:601665 |
MouseDO
RGD |
PMID:8612280 PMID:8772727 |
RGD:1625565, RGD:1625564 |
NCBI chr11:8,019,059...8,106,243
Ensembl chr11:8,019,244...8,106,243
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|
| G |
TYK2 |
tyrosine kinase 2 |
|
ISS |
OMIM:601665 |
MouseDO |
|
|
NCBI chr19:10,350,533...10,380,572
Ensembl chr19:10,350,533...10,380,608
|
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| G |
UCN |
urocortin |
treatment |
ISO |
|
RGD |
PMID:17932219 |
RGD:1642774 |
NCBI chr 2:27,307,400...27,308,445
Ensembl chr 2:27,307,400...27,308,445
|
|
| G |
UCP1 |
uncoupling protein 1 |
no_association |
IAGP
EXP |
DNA:polymorphism: :-3826A>G (human)
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD
RGD |
PMID:15592485 PMID:8968850 |
RGD:1624977 |
NCBI chr 4:140,559,431...140,568,961
Ensembl chr 4:140,559,431...140,568,961
|
|
| G |
UCP2 |
uncoupling protein 2 |
susceptibility |
IAGP
EXP |
DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human)
DNA:SNPs, insertion/deletion, haplotypes:promoter, 3' utr:-2723T>A, -866G>A, *158_159ins45 (human)
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:11381268 PMID:17870627 PMID:11381268 |
RGD:2313512, RGD:737761 |
NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,672...73,982,843
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|
| G |
UCP3 |
uncoupling protein 3 |
susceptibility
no_association |
IAGP
ISO
IEA
IDA
EXP |
DNA:SNP:exon:p.V102I (human)
DNA:polymorphism:promoter:-55C>T (human)
DNA:polymorphism:exon (human)
ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity
ClinVar Annotator: match by term: UCP3-related condition
ClinVar Annotator: match by term: Obesity | 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: UCP3-related condition |
OMIM
ClinVar
CTD
RGD |
PMID:9769326 PMID:10618503 PMID:21544083 PMID:25741868 PMID:28492532 PMID:9769326 PMID:14673524 PMID:18249216 PMID:9700198 PMID:15118671 PMID:12145158 More...
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RGD:1625189, RGD:2313518, RGD:2313506, RGD:2313526, RGD:1331525, RGD:2313519 |
NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085
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|
| G |
ULK4 |
unc-51 like kinase 4 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
|
|
NCBI chr 3:41,246,599...41,962,103
Ensembl chr 3:41,246,599...41,962,130
|
|
| G |
UQCRC2 |
ubiquinol-cytochrome c reductase core protein 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20882379 |
|
NCBI chr16:21,953,361...21,983,660
Ensembl chr16:21,953,288...21,983,660
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|
| G |
VCAM1 |
vascular cell adhesion molecule 1 |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:19260948 |
RGD:2312763 |
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
|
|
| G |
VDR |
vitamin D receptor |
|
IEA |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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|
| G |
VGF |
VGF nerve growth factor inducible |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12177191 |
|
NCBI chr 7:101,162,509...101,169,952
Ensembl chr 7:101,162,509...101,165,569
|
|
| G |
VHL |
von Hippel-Lindau tumor suppressor |
|
IEP |
associated with hepatocellular carcinoma;RNA:decreased expression:liver: |
RGD |
PMID:31321740 |
RGD:155882550 |
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
|
|
| G |
VLDLR |
very low density lipoprotein receptor |
susceptibility |
ISO
EXP |
CTD Direct Evidence: marker/mechanism |
CTD
RGD |
PMID:20975297 PMID:11557677 |
RGD:1625568 |
NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056
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|
| G |
VWF |
von Willebrand factor |
|
IEP |
protein:increased expression:plasma
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma |
RGD |
PMID:16631442 PMID:16739871 |
RGD:1625711, RGD:1625710 |
NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
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|
| G |
WNT10B |
Wnt family member 10B |
|
ISO
IAGP |
DNA:SNP:CDS:amino acid C256Y, mutant unable to activate WNT/beta-catenin signaling pathway |
RGD |
PMID:17578883 PMID:16477437 |
RGD:2326237, RGD:2300029 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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|
| G |
WNT3A |
Wnt family member 3A |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28242765 |
|
NCBI chr 1:228,006,998...228,061,271
Ensembl chr 1:228,006,998...228,061,271
|
|
| G |
XDH |
xanthine dehydrogenase |
treatment |
ISO |
|
RGD |
PMID:7616299 |
RGD:13210504 |
NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742
|
|
| G |
ZBTB7B |
zinc finger and BTB domain containing 7B |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
|
NCBI chr 1:155,001,750...155,018,523
Ensembl chr 1:155,002,630...155,018,523
|
|
| G |
ZC3H10 |
zinc finger CCCH-type containing 10 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:31775033 |
|
NCBI chr12:56,118,266...56,127,514
Ensembl chr12:56,118,260...56,127,514
|
|
| G |
ZFHX3 |
zinc finger homeobox 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
|
NCBI chr16:72,782,885...73,891,930
Ensembl chr16:72,782,885...73,891,871
|
|
| G |
ZFR2 |
zinc finger RNA binding protein 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
|
NCBI chr19:3,804,024...3,869,038
Ensembl chr19:3,804,024...3,869,038
|
|
| G |
ZNF169 |
zinc finger protein 169 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29273807 |
|
NCBI chr 9:94,259,298...94,301,829
Ensembl chr 9:94,259,298...94,301,829
|
|
| G |
ZNF778 |
zinc finger protein 778 |
|
IAGP |
ClinVar Annotator: match by term: Obesity |
ClinVar |
PMID:25741868 |
|
NCBI chr16:89,217,703...89,237,141
Ensembl chr16:89,217,703...89,237,141
|
|
|
|
|---|
| G |
CD163 |
CD163 molecule |
exacerbates |
IEP |
protein:increased expression:blood serum (human) |
RGD |
PMID:31027316 |
RGD:127345132 |
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
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|
| G |
CYP2R1 |
cytochrome P450 family 2 subfamily R member 1 |
|
IAGP |
DNA:SNP:CDS: rs12794714 (human) |
RGD |
PMID:34906413 |
RGD:401900724 |
NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
|
|
| G |
HSD11B1 |
hydroxysteroid 11-beta dehydrogenase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15199296 |
|
NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
|
|
|
|
|---|
| G |
CTF1 |
cardiotrophin 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547
|
|
| G |
GUCY2C |
guanylate cyclase 2C |
|
ISS |
|
MouseDO |
|
|
NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599
|
|
| G |
LEP |
leptin |
|
ISS |
|
MouseDO |
|
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NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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NEIL1 |
nei like DNA glycosylase 1 |
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ISS |
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MouseDO |
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NCBI chr15:75,347,039...75,357,115
Ensembl chr15:75,346,955...75,357,115
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| G |
PPARA |
peroxisome proliferator activated receptor alpha |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15309680 |
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NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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| G |
PPARG |
peroxisome proliferator activated receptor gamma |
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ISS |
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MouseDO |
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NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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| G |
PPARGC1A |
PPARG coactivator 1 alpha |
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ISO |
mRNA:increased expression:gastrocnemius muscle (rat) |
RGD |
PMID:23320128 |
RGD:7241841 |
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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| G |
PRKCI |
protein kinase C iota |
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ISS |
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MouseDO |
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NCBI chr 3:170,222,424...170,305,977
Ensembl chr 3:170,222,424...170,305,977
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| G |
SIRT3 |
sirtuin 3 |
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ISS |
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MouseDO |
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NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931
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| G |
SLC2A9 |
solute carrier family 2 member 9 |
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ISS |
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MouseDO |
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NCBI chr 4:9,771,025...10,040,270
Ensembl chr 4:9,771,153...10,054,936
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| G |
ATP2A2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
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ISO |
protein:increased oxidation:cardiac muscle cell |
RGD |
PMID:23997093 |
RGD:13782087 |
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
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| G |
BAX |
BCL2 associated X, apoptosis regulator |
treatment |
ISO |
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RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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| G |
BCL2 |
BCL2 apoptosis regulator |
treatment |
ISO |
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RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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| G |
FADD |
Fas associated via death domain |
treatment |
ISO |
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RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390
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| G |
FAS |
Fas cell surface death receptor |
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ISO |
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RGD |
PMID:30172001 |
RGD:13792561 |
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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| G |
LEP |
leptin |
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ISS |
OMIM:605552 |
MouseDO |
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NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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| G |
LPL |
lipoprotein lipase |
treatment |
ISO |
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RGD |
PMID:26996629 |
RGD:13794382 |
NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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| G |
MTTP |
microsomal triglyceride transfer protein |
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IAGP |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1 |
ClinVar |
PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
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NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
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| G |
TLR2 |
toll like receptor 2 |
susceptibility |
ISO |
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RGD |
PMID:19841034 |
RGD:15090861 |
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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| G |
TP53INP1 |
tumor protein p53 inducible nuclear protein 1 |
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ISS |
OMIM:605552 |
MouseDO |
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NCBI chr 8:94,925,972...94,949,378
Ensembl chr 8:94,925,972...94,949,378
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| G |
AHDC1 |
AT-hook DNA binding motif containing 1 |
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IAGP |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 |
ClinVar |
PMID:25741868 PMID:29696776 PMID:33644933 |
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NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431
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| G |
DYRK1B |
dual specificity tyrosine phosphorylation regulated kinase 1B |
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IAGP |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition |
ClinVar
OMIM |
PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:28492532 PMID:32041611 More...
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NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201
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| G |
CELA2A |
chymotrypsin like elastase 2A |
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IAGP |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 |
OMIM
ClinVar |
PMID:25741868 PMID:31358993 |
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NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091
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| G |
PHF6 |
PHD finger protein 6 |
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IAGP
ISS
EXP |
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome
ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS
ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders
OMIM:301900
CTD Direct Evidence: marker/mechanism |
ClinVar
MouseDO
CTD
OMIM |
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15580208 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24092917 PMID:24728327 PMID:25099957 PMID:25741868 PMID:25741869 PMID:26648834 PMID:27633282 PMID:27698851 PMID:28492532 PMID:28539120 PMID:28554332 PMID:30403997 PMID:30630810 PMID:33772537 PMID:34041787 PMID:35662002 PMID:36999477 More...
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NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791
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| G |
AFF4 |
ALF transcription elongation factor 4 |
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IAGP |
ClinVar Annotator: match by term: AFF4-related condition | ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome |
OMIM
ClinVar |
PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28492532 PMID:29758562 PMID:31058441 PMID:34782754 More...
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NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
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| G |
TRIP12 |
thyroid hormone receptor interactor 12 |
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IAGP |
ClinVar Annotator: match by term: Clark-Baraitser syndrome
ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition |
ClinVar
OMIM |
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 PMID:28492532 PMID:28660352 PMID:29758562 PMID:31814248 More...
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NCBI chr 2:229,763,837...229,923,186
Ensembl chr 2:229,763,837...229,923,239
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| G |
ANKRD46 |
ankyrin repeat domain 46 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:100,509,752...100,559,759
Ensembl chr 8:100,509,752...100,559,784
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| G |
ATP6V1C1 |
ATPase H+ transporting V1 subunit C1 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:103,021,083...103,073,051
Ensembl chr 8:103,021,063...103,073,051
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| G |
AZIN1 |
antizyme inhibitor 1 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:102,826,302...102,864,200
Ensembl chr 8:102,826,111...102,893,864
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| G |
BAALC |
BAALC binder of MAP3K1 and KLF4 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:103,140,725...103,230,305
Ensembl chr 8:103,140,713...103,230,305
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| G |
COX6C |
cytochrome c oxidase subunit 6C |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:99,877,865...99,893,707
Ensembl chr 8:99,873,200...99,893,707
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| G |
CTHRC1 |
collagen triple helix repeat containing 1 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:103,371,538...103,382,989
Ensembl chr 8:103,371,538...103,382,989
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| G |
DCAF13 |
DDB1 and CUL4 associated factor 13 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:103,415,386...103,443,453
Ensembl chr 8:103,414,714...103,443,453
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| G |
DCSTAMP |
dendrocyte expressed seven transmembrane protein |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:104,339,796...104,356,689
Ensembl chr 8:104,339,087...104,356,689
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| G |
DPYS |
dihydropyrimidinase |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:104,379,431...104,467,055
Ensembl chr 8:104,330,324...104,467,055
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| G |
FBXO43 |
F-box protein 43 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817
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| G |
FZD6 |
frizzled class receptor 6 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:103,298,494...103,332,866
Ensembl chr 8:103,298,433...103,332,866
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| G |
GRHL2 |
grainyhead like transcription factor 2 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726
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| G |
KCNS2 |
potassium voltage-gated channel modifier subfamily S member 2 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr 8:98,426,958...98,432,853
Ensembl chr 8:98,426,958...98,432,853
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| G |
KLF10 |
KLF transcription factor 10 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:102,648,784...102,655,725
Ensembl chr 8:102,648,784...102,655,725
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| G |
LOC110120801 |
VISTA enhancer hs909 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr 8:99,668,181...99,669,581
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| G |
LOC113783876 |
Sharpr-MPRA regulatory region 5914 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
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NCBI chr 8:99,013,019...99,013,395
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| G |
LOC126860453 |
MED14-independent group 3 enhancer GRCh37_chr8:100782591-100783790 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:99,770,363...99,771,562
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| G |
LOC130000825 |
ATAC-STARR-seq lymphoblastoid active region 27683 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:99,080,811...99,080,870
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| G |
LOC130000832 |
ATAC-STARR-seq lymphoblastoid silent region 19412 |
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IAGP |
ClinVar Annotator: match by term: VPS13B-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:100,213,166...100,213,525
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| G |
LRP12 |
LDL receptor related protein 12 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
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| G |
MIR599 |
microRNA 599 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr 8:99,536,636...99,536,730
Ensembl chr 8:99,536,636...99,536,730
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| G |
MIR875 |
microRNA 875 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr 8:99,536,786...99,536,861
Ensembl chr 8:99,536,786...99,536,861
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| G |
MYO7A |
myosin VIIA |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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| G |
NCALD |
neurocalcin delta |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:101,686,542...102,124,907
Ensembl chr 8:101,686,542...102,124,907
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| G |
NIPAL2 |
NIPA like domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:98,189,826...98,294,235
Ensembl chr 8:98,189,826...98,294,393
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| G |
ODF1 |
outer dense fiber of sperm tails 1 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:102,551,589...102,561,018
Ensembl chr 8:102,551,589...102,561,018
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| G |
OSR2 |
odd-skipped related transciption factor 2 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr 8:98,944,442...98,952,100
Ensembl chr 8:98,944,403...98,952,104
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| G |
PABPC1 |
poly(A) binding protein cytoplasmic 1 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:100,702,916...100,722,088
Ensembl chr 8:100,685,816...100,722,809
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| G |
POLR2K |
RNA polymerase II, I and III subunit K |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:100,150,636...100,154,003
Ensembl chr 8:100,150,623...100,154,003
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| G |
POP1 |
POP1 homolog, ribonuclease P/MRP subunit |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835
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| G |
RGS22 |
regulator of G protein signaling 22 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:99,960,936...100,106,049
Ensembl chr 8:99,960,936...100,131,268
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| G |
RIMS2 |
regulating synaptic membrane exocytosis 2 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:103,500,610...104,256,094
Ensembl chr 8:103,500,610...104,254,430
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| G |
RNF19A |
ring finger protein 19A, RBR E3 ubiquitin protein ligase |
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IAGP |
ClinVar Annotator: match by term: VPS13B-related condition |
ClinVar |
PMID:28492532 |
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NCBI chr 8:100,257,067...100,336,204
Ensembl chr 8:100,257,060...100,336,218
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| G |
RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
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| G |
SLC25A32 |
solute carrier family 25 member 32 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:103,398,638...103,415,107
Ensembl chr 8:103,398,635...103,415,189
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| G |
SNX31 |
sorting nexin 31 |
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IAGP |
ClinVar Annotator: match by term: VPS13B-related condition |
ClinVar |
PMID:28492532 |
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NCBI chr 8:100,572,874...100,663,585
Ensembl chr 8:100,572,889...100,663,415
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| G |
SPAG1 |
sperm associated antigen 1 |
|
IAGP |
ClinVar Annotator: match by term: Cohen syndrome
ClinVar Annotator: match by term: VPS13B-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
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| G |
STK3 |
serine/threonine kinase 3 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr 8:98,343,975...98,942,610
Ensembl chr 8:98,371,228...98,942,827
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| G |
UBR5 |
ubiquitin protein ligase E3 component n-recognin 5 |
|
IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:102,252,273...102,412,700
Ensembl chr 8:102,252,273...102,412,759
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| G |
UBR5-DT |
UBR5 divergent transcript |
|
IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:102,239,451...102,252,174
Ensembl chr 8:102,239,386...102,253,750
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| G |
VPS13B |
vacuolar protein sorting 13 homolog B |
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IAGP
ISS
EXP |
ClinVar Annotator: match by term: Cohen syndrome
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition
OMIM:216550
CTD Direct Evidence: marker/mechanism |
ClinVar
MouseDO
CTD
OMIM |
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:15918062 PMID:16199547 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17576681 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:19763152 PMID:20307669 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21850686 PMID:21865173 PMID:22382802 PMID:22406018 PMID:22527104 PMID:22700954 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334746 PMID:24334764 PMID:25060287 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25640679 PMID:25741868 PMID:26104215 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26539891 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28631888 PMID:28832562 PMID:29149870 PMID:29431110 PMID:29453417 PMID:29634382 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30290665 PMID:30602132 PMID:30792901 PMID:30843084 PMID:31444703 PMID:31580008 PMID:31736247 PMID:31943017 PMID:31965297 PMID:32170714 PMID:32384097 PMID:32483926 PMID:32505691 PMID:32581362 PMID:32860008 PMID:32919079 PMID:32959227 PMID:33023636 PMID:33025479 PMID:33217554 PMID:33994118 PMID:34006472 PMID:34353225 PMID:34425733 PMID:35052368 PMID:35690661 More...
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NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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| G |
YWHAZ |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:100,916,523...100,953,382
Ensembl chr 8:100,916,523...100,953,388
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| G |
ZFPM2 |
zinc finger protein, FOG family member 2 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
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| G |
ZNF706 |
zinc finger protein 706 |
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IAGP |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:101,197,052...101,206,222
Ensembl chr 8:101,177,878...101,206,193
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