RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: metabolic dysfunction-associated steatotic liver disease
Accession: DOID:0080208
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Definition: A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:\n(1) Body mass index ≥ 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.\n(2) Fasting serum glucose ≥ 5.6 mmol/L, 2-hr post-load glucose levels ≥ 7.8 mmol/L, glycated hemoglobin (HbA1c) ≥ 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose ≥ 11.1 mmol/L (pediatric only).\n(3) Blood pressure ≥ lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age ≥ 13 years); or specific hypertensive drug treatment.\n(4) Plasma triglycerides ≥ 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age ≥ 10 years); or lipid lowering treatment.\n(5) Plasma high-density lipoprotein cholesterol ≤ 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment. (DO)
Synonyms: exact_synonym: MAFLD; MASLD; NAFLD; Nonalcoholic Fatty Liver; metabolic dysfunction-associated fatty liver disease; metabolic dysfunction-related steatotic liver disease; metabolic-associated fatty liver disease; non-alcoholic fatty liver disease; nonalcoholic fatty liver disease
narrow_synonym: NAFLD1; NAFLD2
related_synonym: Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2; alcoholic liver disease, susceptibility to, 1; nonalcoholic fatty liver disease, susceptibility to; nonalcoholic fatty liver disease, susceptibility to, 1
primary_id: MESH:D065626
alt_id: OMIM:613282 ; OMIM:613387
xref: EFO:0003095 ; NCI:C84444
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Abcb1a
ATP binding cassette subfamily B member 1A
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:22112382
RGD:11040992
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcb1b
ATP-binding cassette, sub-family B member 1B
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:22112382
RGD:11040992
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
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Abcb4
ATP binding cassette subfamily B member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20040336
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Abcc2
ATP binding cassette subfamily C member 2
severity
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs:exon:p.Glu1188Val(rs17222723),p.Tyr1515Cys(rs8187710)(human)
CTD RGD
PMID:29341352 PMID:18926681
RGD:14700775
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcc3
ATP binding cassette subfamily C member 3
IEP
protein:increased expression:liver
RGD
PMID:22112382
RGD:11040992
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
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Abcg5
ATP binding cassette subfamily G member 5
disease_progression
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:23117815 PMID:25263431
RGD:15045604 , RGD:15045610
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Abcg8
ATP binding cassette subfamily G member 8
disease_progression
IEP
mRNA:decreased expression:liver (rat) mRNA:increased expression:liver (rat)
RGD
PMID:23117815 PMID:25263431
RGD:15045604 , RGD:15045610
NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Acaca
acetyl-CoA carboxylase alpha
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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Acacb
acetyl-CoA carboxylase beta
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
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Acadm
acyl-CoA dehydrogenase medium chain
treatment
IEP
RGD
PMID:23076603
RGD:10047124
NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147
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Acadvl
acyl-CoA dehydrogenase, very long chain
treatment
IEP
RGD
PMID:22569299 PMID:23076603
RGD:10047121 , RGD:10047124
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Aco1
aconitase 1
IDA
protein:increased activity:liver
RGD
PMID:23805238
RGD:11541090
NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391
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Actb
actin, beta
IDA
protein:increased carbonylation:liver
RGD
PMID:25282656
RGD:11541097
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
IEP
mRNA, protein:increased expression, increased activity:liver, plasma (rat)
RGD
PMID:19652891
RGD:2315953
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Adh4
alcohol dehydrogenase 4 (class II), pi polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 2:226,948,717...226,966,747
Ensembl chr 2:226,947,466...226,987,591
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Adipoq
adiponectin, C1Q and collagen domain containing
susceptibility treatment disease_progression
IEP ISO
protein:decreased expression:serum DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human) associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human) DNA:hypermethylation CTD Direct Evidence: marker/mechanism associated with obesity;protein:decreased expression:serum: associated with Obesity, Morbid; mRNA, protein:decreased expression:liver
CTD RGD
PMID:20415685 PMID:22152320 PMID:22269154 PMID:26042596 PMID:27860427 PMID:21255792 PMID:15239085 PMID:18713296 PMID:19606393 More...
RGD:5685373 , RGD:14401719 , RGD:11076260 , RGD:14401717 , RGD:5686355 , RGD:5686660 , RGD:5686810 , RGD:5686841
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adipor2
adiponectin receptor 2
susceptibility treatment severity
ISO IEP
DNA:missense mutation:cds: (human) mRNA:increased expression:liver (human) mRNA:increased expression:liver (rat) mRNA, protein:decreased expression:serum, liver (mouse)
RGD
PMID:25345946 PMID:25536648 PMID:19422483 PMID:26770322 PMID:17006986 PMID:29569260 More...
RGD:24922200 , RGD:25824941 , RGD:25440492 , RGD:25330097 , RGD:1599139 , RGD:24922201
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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Adrb3
adrenoceptor beta 3
ISO
DNA:missense mutation:cds:p.W64R (rs4994) (human)
RGD
PMID:15318095
RGD:5684892
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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Ahcy
adenosylhomocysteinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29127188
NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29416063
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Aldh1a1
aldehyde dehydrogenase 1 family, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961
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Aldh1b1
aldehyde dehydrogenase 1 family, member B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 5:60,063,370...60,068,378
Ensembl chr 5:60,063,225...60,068,378
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Aldh1l2
aldehyde dehydrogenase 1 family, member L2
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr 7:20,254,246...20,305,793
Ensembl chr 7:20,254,233...20,305,776
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Aldh2
aldehyde dehydrogenase 2 family member
treatment susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds: (rs671) (human)
CTD RGD
PMID:29718361 PMID:25392542 PMID:27214654 PMID:31026768
RGD:15042863 , RGD:11536476 , RGD:15036808
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Aldh4a1
aldehyde dehydrogenase 4 family, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345
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Alox15
arachidonate 15-lipoxygenase
ISO
RGD
PMID:20967760
RGD:5509622
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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Apoa1
apolipoprotein A1
treatment
ISO
RGD
PMID:26420354
RGD:25671437
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoe
apolipoprotein E
IDA
RGD
PMID:21184788
RGD:6904141
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Apoh
apolipoprotein H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
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Atg7
autophagy related 7
ISO
ClinVar Annotator: match by term: NAFLD1
ClinVar
PMID:25741868 PMID:35405176
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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Atp5f1a
ATP synthase F1 subunit alpha
IDA
RGD
PMID:25222487
RGD:13703054
NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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Atp5f1b
ATP synthase F1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25666834
NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
treatment
IEP
RGD
PMID:27982256
RGD:153352323
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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B3gat1
beta-1,3-glucuronyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211274
NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
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C1qc
complement C1q C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35789393
NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29718361
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl2
C-C motif chemokine ligand 2
severity
IEP ISO
protein:increased expression:plasma
RGD
PMID:25813056 PMID:24927058
RGD:14995922 , RGD:14995928
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl5
C-C motif chemokine ligand 5
disease_progression treatment
IEP IMP
RGD
PMID:27639593 PMID:27639593
RGD:14995335 , RGD:14995335
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism: :190A>G(human)
RGD
PMID:26591766
RGD:14995492
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cd14
CD14 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20353583
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:31027316
RGD:127345132
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd36
CD36 molecule
ISO
mRNA:increased expression:liver
RGD
PMID:21216282 PMID:24280415
RGD:6893543 , RGD:11041117
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cideb
cell death-inducing DFFA-like effector b
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:25263431
RGD:15045610
NCBI chr15:29,252,208...29,256,482
Ensembl chr15:29,252,213...29,256,605
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Cobll1
cordon-bleu WH2 repeat protein-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr 3:49,753,260...49,915,168
Ensembl chr 3:49,753,262...49,915,194
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Col1a1
collagen type I alpha 1 chain
treatment
ISO IDA
RGD
PMID:23703580 PMID:17241878
RGD:8552713 , RGD:2308807
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Cpt1a
carnitine palmitoyltransferase 1A
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29289645 PMID:31211621
RGD:14747028
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Cxcl10
C-X-C motif chemokine ligand 10
treatment
ISO
RGD
PMID:28824718
RGD:27095887
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15706422
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27565560
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
protein:decreased expression:liver (mouse)
RGD
PMID:29710028
RGD:25671411
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26428356 PMID:26703967 PMID:28458161 PMID:25317811
RGD:11573192 , RGD:14700881 , RGD:14700871
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Cyp8b1
cytochrome P450 family 8 subfamily B member 1
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:25263431
RGD:15045610
NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
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Dgat2
diacylglycerol O-acyltransferase 2
treatment
IEP ISO
RGD
PMID:24166662 PMID:26394137 PMID:17618857
RGD:10400900 , RGD:329955565 , RGD:10401056
NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
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Ech1
enoyl-CoA hydratase 1
treatment
ISO
RGD
PMID:31961704
RGD:21408561
NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795
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Eif2ak1
eukaryotic translation initiation factor 2 alpha kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
IEP
RGD
PMID:24351808
RGD:9588320
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22841818
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23127599
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fasn
fatty acid synthase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
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Fgf21
fibroblast growth factor 21
severity
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:26797127 PMID:29289645 PMID:32195457
RGD:25330354
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
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Fgfr1
Fibroblast growth factor receptor 1
severity
ISO
RGD
PMID:32195457
RGD:25330354
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Folr2
folate receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30794826
NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724
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Foxo1
forkhead box O1
treatment
IMP
associated with Diabetes Mellitus, Experimental
RGD
PMID:30186875
RGD:14401598
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:liver
CTD RGD
PMID:35654975 PMID:23329013
RGD:329951008
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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G6pc1
glucose-6-phosphatase catalytic subunit 1
treatment
ISO
associated with type 2 diabetes mellitus
RGD
PMID:30100243 PMID:27840945
RGD:14695535 , RGD:14695545
NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
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G6pd
glucose-6-phosphate dehydrogenase
treatment
IEP
RGD
PMID:20211032
RGD:10449177
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gnmt
glycine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31086990
NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
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Gpam
glycerol-3-phosphate acyltransferase, mitochondrial
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
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Gpt
glutamic--pyruvic transaminase
severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased activity:plasma
CTD RGD
PMID:35654975 PMID:24768200 PMID:22922605
RGD:14975160 , RGD:14975251
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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Gpt2
glutamic--pyruvic transaminase 2
ISO
protein:increased activity:plasma
RGD
PMID:22922605
RGD:14975251
NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
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Gpx1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:24597775
RGD:11352823
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gsr
glutathione-disulfide reductase
treatment
IEP
RGD
PMID:24622831
RGD:10401873
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Gsta1
glutathione S-transferase alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23643483
NCBI chr 9:23,703,476...23,720,121
Ensembl chr 9:23,703,477...23,720,121
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Gstm1
glutathione S-transferase mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23643483
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23643483
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23643483
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
IEP
protein:decreased expression:liver
RGD
PMID:24782632
RGD:14694831
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
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Hamp
hepcidin antimicrobial peptide
IEP
associated with iron overload;protein:increased expression:serum (human) mRNA:increased expression:liver (human)
RGD
PMID:29871592 PMID:28051796
RGD:15042878 , RGD:15042880
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hfe
homeostatic iron regulator
ISO
DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:9453491
RGD:8694420
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
disease_progression
IEP
mRNA:decreased expression:liver mRNA:altered expression:liver (rat) mRNA:decreased expression:liver (rat)
RGD
PMID:19913842 PMID:25263431 PMID:23117815
RGD:5508690 , RGD:15045610 , RGD:15045604
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Hp
haptoglobin
IEP ISO
protein:increased expression:serum protein:decreased expression:serum
RGD
PMID:21806828 PMID:21806828
RGD:9491781 , RGD:9491781
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Htr2a
5-hydroxytryptamine receptor 2A
treatment
ISO
RGD
PMID:35732081
RGD:401900606
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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Ide
insulin degrading enzyme
IEP
RGD
PMID:26576191
RGD:13792804
NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440
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Ifi30
IFI30, lysosomal thiol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr16:18,675,590...18,679,655
Ensembl chr16:18,675,613...18,681,175
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Igf1
insulin-like growth factor 1
susceptibility
IEP
associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat)
RGD
PMID:24275070
RGD:12904726
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf1r
insulin-like growth factor 1 receptor
susceptibility
IEP
associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat)
RGD
PMID:24275070
RGD:12904726
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Igfbp7
insulin-like growth factor binding protein 7
treatment disease_progression
ISO IEP
mRNA:increased expression:liver (human) mRNA:increased expression:liver (rat)
RGD
PMID:31397492 PMID:35312185 PMID:36034446 PMID:31805951
RGD:401960873 , RGD:401960879 , RGD:401960878 , RGD:401960876
NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21115542
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Il10
interleukin 10
severity
ISO
associated with morbid obesity
RGD
PMID:25894568
RGD:14975151
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:18802068
RGD:4145478
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il18
interleukin 18
treatment severity
IEP ISO
protein:increased expression:plasma
RGD
PMID:24006666 PMID:28660148 PMID:20422882
RGD:8655964 , RGD:14696674 , RGD:14696664
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
no_association
ISO
DNA:SNPs:CDS:rs1143634 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:CDS:rs16944 (human)
CTD RGD
PMID:32613381 PMID:27730688 PMID:27730688
RGD:14975293 , RGD:14975293
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
severity
ISO
associated with morbid obesity, protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:35654975 PMID:22027586
RGD:14401582
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il3
interleukin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
mRNA,protein:increased expression:liver,plasma DNA:SNPs:promoter:rs10499563, rs1800795 (human)
RGD
PMID:18510618 PMID:27730688
RGD:7829808 , RGD:14975293
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32613381
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Insr
insulin receptor
susceptibility treatment
IMP ISO IEP
DNA:deletion:cds:codon 306 in exon 4 (mouse) DNA:deletion:cds: (codon 306, exon 4) (mouse)
RGD
PMID:28468951 PMID:28468951 PMID:29325294
RGD:14700929 , RGD:14700929 , RGD:14700932
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Irs1
insulin receptor substrate 1
IEP
RGD
PMID:20846698
RGD:6483014
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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Irs2
insulin receptor substrate 2
IEP
RGD
PMID:20846698
RGD:6483014
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
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Jak2
Janus kinase 2
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28100771 PMID:18782535
RGD:6483030
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Klb
klotho beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
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Krt18
keratin 18
disease_progression
ISO IEP
protein:increased expression:serum (human) associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat) protein:increased degradation:serum (rat)
RGD
PMID:30839434 PMID:29989845 PMID:30149902 PMID:30089409
RGD:18337481 , RGD:26884460 , RGD:18337497 , RGD:18337482
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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Lama1
laminin subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr 9:107,692,770...107,816,847
Ensembl chr 9:107,692,770...107,817,478
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Ldlr
low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20938947 PMID:23127599 PMID:23285030
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Lep
leptin
ISO ISS IEP
associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma CTD Direct Evidence: marker/mechanism OMIM:613282 | OMIM:613387 associated with type 2 diabetes mellitus;protein:increased expression:serum (human) associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human)
CTD MouseDO RGD
PMID:24211274 PMID:36105184 PMID:18713300 PMID:30052309 PMID:20476641
RGD:2311137 , RGD:25330349 , RGD:25330346
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
susceptibility
ISO ISS
DNA:intron:c.2673+1118C>T (rs6700896) (human) DNA:SNP:cds:p.Q223R(human) OMIM:613282 | OMIM:613387
MouseDO RGD
PMID:22215535 PMID:27257426
RGD:14696694 , RGD:21079462
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lif
LIF, interleukin 6 family cytokine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482
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Lpl
lipoprotein lipase
treatment
IDA IEP
RGD
PMID:30214514 PMID:27978932
RGD:13793398 , RGD:13794377
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Mapk8
mitogen-activated protein kinase 8
treatment
IEP
associated with Diabetes Mellitus, Type 2; protein:increased phosphorylation:adipose tissue, liver (rat)
RGD
PMID:24404139 PMID:27909723
RGD:13506784 , RGD:150340686
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Met
MET proto-oncogene, receptor tyrosine kinase
disease_progression
ISO
RGD
PMID:24845607
RGD:14694829
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mfn2
mitofusin 2
treatment
IEP
RGD
PMID:26401075
RGD:13204743
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mir155
microRNA 155
ISO
miRNA:decreased expression:blood, liver
RGD
PMID:27856635 PMID:27832630
RGD:21079446 , RGD:25671479
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir200b
microRNA 200b
severity
ISO
induced by nutritional deficiency.
RGD
PMID:22561871 PMID:20548288
RGD:14928332 , RGD:14974031
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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Mir20a
microRNA 20a
IEP
associated with type 2 diabetes mellitus
RGD
PMID:30030064
RGD:25823148
NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168
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Mir22
microRNA 22
severity treatment
ISO
RGD
PMID:32195457 PMID:32195457
RGD:25330354 , RGD:25330354
NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133
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Mir34a
microRNA 34a
ISO
miRNA:increased expression:plasma
RGD
PMID:27077736
RGD:11533145
NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
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Mlxipl
MLX interacting protein-like
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
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Mlycd
malonyl-CoA decarboxylase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
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Mmp1
matrix metallopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mthfr
methylenetetrahydrofolate reductase
severity susceptibility
ISO
DNA:SNP: :1298A > C (human) DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
RGD
PMID:24488901 PMID:17563923
RGD:14696706 , RGD:14696748
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mttp
microsomal triglyceride transfer protein
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:35654975 PMID:15094225
RGD:1581245
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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Nampt
nicotinamide phosphoribosyltransferase
treatment
IEP
RGD
PMID:27982256
RGD:153352323
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25294219 PMID:23592516
RGD:10412712
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nlrp3
NLR family, pyrin domain containing 3
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nos2
nitric oxide synthase 2
ISO
mRNA, protein:increased expression:liver (mouse)
RGD
PMID:21948338
RGD:5509578
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nqo1
NAD(P)H quinone dehydrogenase 1
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29289645 PMID:28932253
RGD:13434914
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:25263431
RGD:15045610
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
treatment disease_progression susceptibility
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver (rat) mRNA:decreased expression:liver (rat) DNA:deletion:cds:exon 9 (mouse)
CTD RGD
PMID:29142166 PMID:32062620 PMID:29743187 PMID:30257410 PMID:25263431 PMID:23117815 PMID:23700488 More...
RGD:14696797 , RGD:15090799 , RGD:15045610 , RGD:15045604 , RGD:14701033
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Nr5a2
nuclear receptor subfamily 5, group A, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29515023
NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326
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Pdk4
pyruvate dehydrogenase kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr 4:33,591,796...33,601,798
Ensembl chr 4:33,589,799...33,601,850
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Pemt
phosphatidylethanolamine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29416063
NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
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Pgrmc1
progesterone receptor membrane component 1
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682
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Phyh
phytanoyl-CoA 2-hydroxylase
treatment
IEP
RGD
PMID:29031784
RGD:13831310
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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Pklr
pyruvate kinase L/R
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
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Pla2g7
phospholipase A2 group VII
ISO
protein:increased expression:serum
RGD
PMID:22112193
RGD:6482771
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Pnpla3
patatin-like phospholipase domain containing 3
susceptibility
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:613282 | OMIM:613387 ClinVar Annotator: match by term: NAFLD1 | ClinVar Annotator: match by term: Susceptibility to Nonalcoholic Fatty Liver Disease DNA:SNPs: :rs738407, rs738409, and rs2896019 (human) associated with obesity;DNA:SNP: :rs738409 (p.I148M) (human)
CTD MouseDO ClinVar RGD
PMID:18820647 PMID:21381068 PMID:24033266 PMID:24531328 PMID:24917523 PMID:25290313 PMID:26200108 PMID:27180240 PMID:27288299 PMID:28073161 PMID:28492532 PMID:29158695 PMID:24831885 PMID:24477042 PMID:26740948 More...
RGD:14981596 , RGD:14981593 , RGD:13463463
NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
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Pon2
paraoxonase 2
treatment
IEP
RGD
PMID:22536512
RGD:8661257
NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
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Ppara
peroxisome proliferator activated receptor alpha
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23603006 PMID:31211621
RGD:14747028
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Ppard
peroxisome proliferator-activated receptor delta
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16574099 PMID:29289645
NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ppargc1a
PPARG coactivator 1 alpha
treatment susceptibility
IDA IEP ISO
associated with Obesity; DNA:missense mutation:cds:p.G482S rs8192678 (human)
RGD
PMID:21373642 PMID:26394137 PMID:23269818
RGD:6484527 , RGD:329955565 , RGD:7241847
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ppargc1b
PPARG coactivator 1 beta
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194
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Ppdpf
pancreatic progenitor cell differentiation and proliferation factor
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
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Prdx3
peroxiredoxin 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34678374
NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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Prf1
perforin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211274
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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Prkca
protein kinase C, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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Prkcd
protein kinase C, delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
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Prkce
protein kinase C, epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26023714
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgs2
prostaglandin-endoperoxide synthase 2
treatment
ISO
RGD
PMID:26723251
RGD:11086779
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Rag2
recombination activating 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211274
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Rarres2
retinoic acid receptor responder 2
disease_progression
ISO IEP
mRNA:decreased expression:liver mRNA, protein:decreased expression:liver,serum
RGD
PMID:23507574 PMID:23507574 PMID:23507574
RGD:15036822 , RGD:15036822 , RGD:15036822
NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
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Rdx
radixin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29341352
NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
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Retn
resistin
IEP
protein:increased expression:serum
RGD
PMID:20560816
RGD:7207249
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Samm50
SAMM50 sorting and assembly machinery component
ISO
DNA:SNPs: :
RGD
PMID:26740948
RGD:13463463
NCBI chr 7:115,317,472...115,341,682
Ensembl chr 7:115,317,404...115,341,682
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Scarb1
scavenger receptor class B, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23127599
NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647
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Scd
stearoyl-CoA desaturase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpinb2
serpin family B member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615
NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
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Serpine1
serpin family E member 1
ISO
protein:increased expression:blood:
RGD
PMID:25091195
RGD:13208545
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sidt2
SID1 transmembrane family, member 2
ISS
OMIM:613282 | OMIM:613387
MouseDO
NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
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Sirt1
sirtuin 1
treatment severity
IEP ISO
CTD Direct Evidence: therapeutic associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue protein:decreased expression:liver
CTD RGD
PMID:26026874 PMID:17498258 PMID:20033348 PMID:22902550
RGD:9585663 , RGD:9586021 , RGD:9585746
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sirt2
sirtuin 2
treatment
IDA
associated with Obesity
RGD
PMID:22327056
RGD:9586049
NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975
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Sirt3
sirtuin 3
treatment
IDA
associated with Obesity
RGD
PMID:22327056
RGD:9586049
NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
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Sirt4
sirtuin 4
IEP
RGD
PMID:20651844
RGD:9586052
NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439
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Sirt6
sirtuin 6
treatment
IEP
RGD
PMID:21373642
RGD:6484527
NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
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Sod2
superoxide dismutase 2
treatment
ISO
RGD
PMID:15094225 PMID:24597775
RGD:1581245 , RGD:11352823
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Srebf1
sterol regulatory element binding transcription factor 1
disease_progression treatment
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (mouse)
CTD RGD
PMID:23603006 PMID:24633463 PMID:29173234 PMID:26394137
RGD:401827867 , RGD:329955565
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Stat3
signal transducer and activator of transcription 3
IDA
RGD
PMID:18782535
RGD:6483030
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stc2
stanniocalcin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097666
NCBI chr10:16,251,046...16,260,815
Ensembl chr10:16,250,853...16,262,973
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Tff3
trefoil factor 3
treatment
ISO
mRNA,protein:decreased expression:liver:
RGD
PMID:31211621 PMID:31211621
RGD:14747028 , RGD:14747028
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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Tfrc
transferrin receptor
IEP
protein:increased expression:liver
RGD
PMID:23805238
RGD:11541090
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tg
thyroglobulin
sexual_dimorphism
ISO
RGD
PMID:30016121
RGD:401976499
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21664615 PMID:32613381
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr4
toll-like receptor 4
treatment severity
IEP ISO
mRNA:increased expression:liver:
RGD
PMID:23301938 PMID:25413054 PMID:22253482
RGD:7777122 , RGD:14700658 , RGD:14700656
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
ISO
mRNA:increased expression:liver (human, mouse)
RGD
PMID:28687713
RGD:18337289
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tm6sf2
transmembrane 6 superfamily member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24531328
NCBI chr16:19,344,218...19,351,431
Ensembl chr16:19,344,222...19,351,431
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Tnf
tumor necrosis factor
treatment severity
IEP ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum, liver (rat) associated with morbid obesity
CTD RGD
PMID:32613381 PMID:25219124 PMID:19034968 PMID:25894568
RGD:10450574 , RGD:14995482 , RGD:14975151
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfaip3
TNF alpha induced protein 3
severity
ISO
RGD
PMID:27253414
RGD:151347600
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20353583
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Trib1
tribbles pseudokinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654975
NCBI chr 7:91,206,579...91,213,126
Ensembl chr 7:91,206,579...91,214,731
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Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497
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Ucp2
uncoupling protein 2
treatment
IDA ISO IEP
mRNA:increased expression:liver mRNA, protein:increased expression:liver
RGD
PMID:21359922 PMID:18308829 PMID:18543254
RGD:7175312 , RGD:7204435 , RGD:7204434
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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Vdr
vitamin D receptor
treatment
ISO
mRNA,protein:increased expression:hepatocyte:
RGD
PMID:27245430 PMID:27245430 PMID:27245430
RGD:14401753 , RGD:14401753 , RGD:14401753
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vldlr
very low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29289645
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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Xbp1
X-box binding protein 1
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24097666 PMID:26394137
RGD:329955565
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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Abca1
ATP binding cassette subfamily A member 1
treatment
ISO
RGD
PMID:29505790
RGD:19165131
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Acaca
acetyl-CoA carboxylase alpha
treatment
IEP
RGD
PMID:28458350
RGD:401799674
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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Acer3
alkaline ceramidase 3
treatment disease_progression
ISO
mRNA:increased expression:liver
RGD
PMID:31949129 PMID:31949129 PMID:31949129
RGD:35673324 , RGD:35673324 , RGD:35673324
NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591
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Acta2
actin alpha 2, smooth muscle
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:28100771
RGD:127285675
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Adipor2
adiponectin receptor 2
susceptibility treatment
IEP ISO
mRNA:decreased expression:liver (rat) associated with obesity associated with obesity;protein:decreased expression:liver (mouse)
RGD
PMID:20606728 PMID:30131158 PMID:20965162 PMID:18666257 PMID:19763702
RGD:21076282 , RGD:25824942 , RGD:25440494 , RGD:25330095 , RGD:25330094
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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Adra2a
adrenoceptor alpha 2A
ISO
protein:increased expression:liver (human)
RGD
PMID:30009772
RGD:401976534
NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
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Apoa1
apolipoprotein A1
treatment
ISO IEP
human gene in mouse model mRNA, protein: increased expression:liver, serum (rat)
RGD
PMID:24793484 PMID:30187493
RGD:21408551 , RGD:25671434
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
treatment
IEP
associated with type 2 diabetes mellitus;
RGD
PMID:29608898
RGD:153352320
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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Birc3
baculoviral IAP repeat-containing 3
ISO
protein:increased expression:liver (human)
RGD
PMID:29307797
RGD:153297819
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO IEP
RNA:increased expression:liver: mRNA:increased expression:liver (rat)
RGD
PMID:24429361 PMID:20606728 PMID:30369082
RGD:14975280 , RGD:21076282 , RGD:14995462
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:serum:
RGD
PMID:27639593
RGD:14995335
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cldn1
claudin 1
IEP
mRNA:increased expression:distal colon (rat)
RGD
PMID:31189495
RGD:26884351
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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Col1a1
collagen type I alpha 1 chain
ameliorates
ISO
RGD
PMID:28100771
RGD:127285675
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Cpt1a
carnitine palmitoyltransferase 1A
treatment
IEP
RGD
PMID:28458350
RGD:401799674
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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Cxcl10
C-X-C motif chemokine ligand 10
severity
ISO
mRNA,protein:increased expression:liver,serum
RGD
PMID:25048951 PMID:25048951
RGD:27095890 , RGD:27095890
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
mRNA:increased expression:liver (human)
RGD
PMID:28774887
RGD:15045601
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Cyp7a1
cytochrome P450 family 7 subfamily A member 1
treatment
ISO IEP
mRNA:increased expression:liver (human) mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:28774887 PMID:30038487
RGD:15045601 , RGD:15092090
NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
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Gpbar1
G protein-coupled bile acid receptor 1
treatment
IEP
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:30038487
RGD:15092090
NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
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Htr2b
5-hydroxytryptamine receptor 2B
ISO
associated with morbid obesity;mRNA:decreased expression:liver
RGD
PMID:33081272
RGD:401900305
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ameliorates
ISO
RGD
PMID:28415887
RGD:14985253
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ifng
interferon gamma
ameliorates
ISO
RGD
PMID:28100771
RGD:127285675
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
ISO
DNA:SNP:promoter:-1082A>G (rs1800896) (human)
RGD
PMID:28852433
RGD:14975143
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1b
interleukin 1 beta
ameliorates
ISO
RGD
PMID:28100771
RGD:127285675
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il6
interleukin 6
ameliorates
ISO
DNA:SNP:promoter:-174���G/C (human)
RGD
PMID:28852433 PMID:28100771
RGD:14975143 , RGD:127285675
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf5
interferon regulatory factor 5
ISO
mRNA:increased expression:liver
RGD
PMID:27942586
RGD:40924562
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Jak2
Janus kinase 2
ameliorates
ISO
RGD
PMID:28100771
RGD:127285675
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Krt18
keratin 18
severity
ISO ISS IEP
protein:increased degradation:plasma (human) protein:altered degradation:liver, serum (rat) protein:increased expression:serum (human) associated with morbid obesity;protein:increased degradation: plasma(human) protein:increased degradation:serum (human)
MouseDO RGD
PMID:19585618 PMID:24071521 PMID:21993925 PMID:18995215 PMID:19333204 PMID:24630506 More...
RGD:18337489 , RGD:27226810 , RGD:18337499 , RGD:18337495 , RGD:18337493 , RGD:18337490
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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Lepr
leptin receptor
susceptibility
ISO
DNA:SNPs: :rs1137100,rs1137101(human)
RGD
PMID:23278404
RGD:14696696
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Mc4r
melanocortin 4 receptor
ISS
MouseDO
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
RGD
PMID:32015322
RGD:151356909
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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Mir21
microRNA 21
ameliorates
ISO
RNA:increased expression:liver
RGD
PMID:26338827 PMID:26338827
RGD:41404659 , RGD:41404659
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir221
microRNA 221
treatment disease_progression
ISO
RGD
PMID:30316865 PMID:22267590
RGD:18337274 , RGD:151709001
NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
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Mir222
microRNA 222
disease_progression
ISO
RGD
PMID:22267590
RGD:151709001
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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Mir223
microRNA 223
treatment
ISO
RNA:increased expression:liver:
RGD
PMID:31585800 PMID:30964207 PMID:30964207
RGD:21408547 , RGD:21408549 , RGD:21408549
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mlxipl
MLX interacting protein-like
treatment
IEP
RGD
PMID:28458350
RGD:401799674
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
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Myd88
MYD88, innate immune signal transduction adaptor
treatment
ISO
RGD
PMID:25790822
RGD:150519907
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IEP
RGD
PMID:25385666
RGD:21201312
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nfkb1
nuclear factor kappa B subunit 1
treatment
IEP
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:30038487
RGD:15092090
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nox4
NADPH oxidase 4
susceptibility
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:20606728
RGD:21076282
NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
treatment
ISO IEP
mRNA:increased expression:liver (human) mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:28774887 PMID:30038487
RGD:15045601 , RGD:15092090
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Pck1
phosphoenolpyruvate carboxykinase 1
treatment
IEP
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:30038487
RGD:15092090
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
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Ripk3
receptor-interacting serine-threonine kinase 3
ISO
mRNA:increased expression:liver (human)
RGD
PMID:21425308
RGD:127229938
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Scd
stearoyl-CoA desaturase
treatment
IEP
RGD
PMID:28458350
RGD:401799674
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Serpinf1
serpin family F member 1
treatment
ISO
human gene in a mouse model protein:increased expression:serum (human)
RGD
PMID:28365916 PMID:26121037
RGD:27226700 , RGD:27226705
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Smad4
SMAD family member 4
ISO
protein:increased expression:liver:
RGD
PMID:29696816 PMID:29696816
RGD:18937002 , RGD:18937002
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Sod1
superoxide dismutase 1
susceptibility
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:20606728
RGD:21076282
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
susceptibility
IEP ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:20606728 PMID:24649902
RGD:21076282 , RGD:26923960
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Srebf1
sterol regulatory element binding transcription factor 1
treatment
IEP
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD
PMID:30038487 PMID:28458350
RGD:15092090 , RGD:401799674
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:29482933
RGD:15090806
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr9
toll-like receptor 9
disease_progression
ISO
mRNA, protein:increased expression:serum, liver (mouse)
RGD
PMID:24650018
RGD:18337469
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
susceptibility
IEP ISO
mRNA:increased expression:liver (rat) mRNA:increased expression:liver (mouse)
RGD
PMID:20606728 PMID:28100771
RGD:21076282 , RGD:127285675
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Txnip
thioredoxin interacting protein
ISO
RGD
PMID:29482933
RGD:15090806
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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Ubd
ubiquitin D
ISO
protein:increased expression:liver (human)
RGD
PMID:30009772
RGD:401976534
NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639 Ensembl chr20:1,385,864...1,408,639
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:serum:
RGD
PMID:27639593
RGD:14995335
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Creb1
cAMP responsive element binding protein 1
treatment
ISO
RGD
PMID:28770225
RGD:401940144
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased expression:serum:
RGD
PMID:23730648
RGD:14747013
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Gpt
glutamic--pyruvic transaminase
ISO
protein:increased expression:liver,serum
RGD
PMID:18710424
RGD:14975250
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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Gpt2
glutamic--pyruvic transaminase 2
ISO
protein:increased expression:liver,serum
RGD
PMID:18710424
RGD:14975250
NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
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Htr2a
5-hydroxytryptamine receptor 2A
ISO
associated with morbid obesity;mRNA:decreased expression:liver
RGD
PMID:33081272
RGD:401900305
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
G
Htr2b
5-hydroxytryptamine receptor 2B
ISO
associated with morbid obesity;mRNA:decreased expression:liver
RGD
PMID:33081272
RGD:401900305
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
severity susceptibility
ISO
RGD
PMID:29861476 PMID:31064654
RGD:14985251 , RGD:14985252
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
G
Ngf
nerve growth factor
ISO
protein:increased expression:plasma
RGD
PMID:22434756
RGD:401976546
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
G
Nr1h4
nuclear receptor subfamily 1, group H, member 4
severity
ISO
cholic acid fed FXR-/- mouse
RGD
PMID:12971955
RGD:15045573
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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