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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
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Accession:DOID:0080208 term browser browse the term
Definition:A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol. (DO)
Synonyms:exact_synonym: MAFLD;   MASLD;   NAFL;   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;   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: DOID:0080546;   MIM:613282;   MIM:613387
 xref: EFO:0003095;   EFO:1001248;   NCI:C84444

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metabolic dysfunction-associated steatotic liver disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO mRNA:increased expression:liver (rat) RGD PMID:22112382 RGD:11040992 NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20040336 NCBI chr21:61,459,344...61,529,017 JBrowse link
G 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:18926681 PMID:29341352 RGD:14700775 NCBI chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265 		JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 ISO protein:increased expression:liver RGD PMID:22112382 RGD:11040992 NCBI chr16:42,646,316...42,703,124
Ensembl chr16:42,646,812...42,702,852 		JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 disease_progression ISO mRNA:increased expression:liver (rat) RGD PMID:23117815 RGD:15045604 NCBI chr14:63,414,241...63,439,193
Ensembl chr14:63,413,691...63,438,917 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 disease_progression ISO mRNA:decreased expression:liver (rat) RGD PMID:23117815 RGD:15045604 NCBI chr14:63,389,817...63,420,048
Ensembl chr14:63,390,433...63,413,906 		JBrowse link
G ACACA acetyl-CoA carboxylase alpha treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr16:30,374,166...30,704,635
Ensembl chr16:30,452,343...30,705,004 		JBrowse link
G ACACB acetyl-CoA carboxylase beta treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr11:104,325,250...104,488,567
Ensembl chr11:104,349,573...104,488,003 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain treatment ISO RGD PMID:23076603 RGD:10047124 NCBI chr20:57,428,863...57,468,422
Ensembl chr20:57,428,472...57,468,359 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain treatment ISO RGD PMID:22569299 PMID:23076603 RGD:10047121 RGD:10047124 NCBI chr16:6,593,288...6,598,980
Ensembl chr16:6,593,287...6,598,979 		JBrowse link
G ACO1 aconitase 1 ISO protein:increased activity:liver RGD PMID:23805238 RGD:11541090 NCBI chr12:47,771,140...47,874,478
Ensembl chr12:47,806,436...47,874,227 		JBrowse link
G ACTB actin beta ISO protein:increased carbonylation:liver RGD PMID:25282656 RGD:11541097 NCBI chr28:16,195,676...16,197,161
Ensembl chr12:52,426,752...52,427,879 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO mRNA, protein:increased expression, increased activity:liver, plasma (rat) RGD PMID:19652891 RGD:2315953 NCBI chr12:4,677,237...4,718,825
Ensembl chr12:4,677,229...4,714,386 		JBrowse link
G ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 7:47,226,787...47,248,518
Ensembl chr 7:47,226,191...47,248,234 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing susceptibility
treatment
disease_progression		 ISO mRNA, protein:decreased expression:liver
associated with Type 1 Diabetes Mellitus; protein:decreased expression:plasma
CTD Direct Evidence: marker/mechanism
associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human)
DNA:hypermethylation
DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human)
protein:decreased expression:serum
associated with obesity;protein:decreased expression:serum:
associated with Obesity, Morbid;		 RGD
CTD		 PMID:15239085 PMID:18713296 PMID:19606393 PMID:20415685 PMID:21255792 More... RGD:11076260 RGD:14401598 RGD:14401717 RGD:14401719 RGD:5685373 RGD:5686355 RGD:5686660 RGD:5686810 RGD:5686841 NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391 		JBrowse link
G ADIPOR2 adiponectin receptor 2 severity
susceptibility
treatment		 ISO mRNA:increased expression:liver (rat)
mRNA:increased expression:liver (human)
DNA:missense mutation:cds: (human)
mRNA, protein:decreased expression:serum, liver (mouse)		 RGD PMID:17006986 PMID:19422483 PMID:25345946 PMID:25536648 PMID:26770322 More... RGD:1599139 RGD:24922200 RGD:24922201 RGD:25330097 RGD:25440492 RGD:25824941 NCBI chr11:1,802,694...1,836,703
Ensembl chr11:1,738,026...1,837,060 		JBrowse link
G ADRB3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R (rs4994) (human) RGD PMID:15318095 RGD:5684892 NCBI chr 8:35,993,553...35,998,200
Ensembl chr 8:35,994,775...35,997,060 		JBrowse link
G AHCY adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29127188 NCBI chr 2:38,579,254...38,601,218
Ensembl chr 2:38,579,024...38,601,208 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23508103 PMID:29416063 RGD:405866380 NCBI chr21:40,778,198...40,826,491
Ensembl chr21:40,778,218...40,826,478 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 susceptibility
treatment		 ISO DNA:SNPs:intron, enhancer: (rs2494732, rs2494752)
associated with Experimental Diabetes Mellitus		 RGD PMID:30186875 PMID:37525829 RGD:14401598 RGD:407419881 NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698 		JBrowse link
G ALDH1A1 aldehyde dehydrogenase 1 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr12:83,949,529...84,092,452
Ensembl chr12:83,949,399...84,009,003 		JBrowse link
G ALDH1B1 aldehyde dehydrogenase 1 family member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr12:42,191,112...42,450,267
Ensembl chr12:42,192,629...42,194,182 		JBrowse link
G ALDH1L2 aldehyde dehydrogenase 1 family member L2 ISO OMIM:613282 | OMIM:613387 MouseDO NCBI chr11:100,242,649...100,311,164
Ensembl chr11:100,247,262...100,298,621 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member susceptibility
treatment		 ISO DNA:missense mutation:cds: (rs671) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:25392542 PMID:27214654 PMID:29718361 PMID:31026768 RGD:11536476 RGD:15036808 RGD:15042863 NCBI chr11:107,019,015...107,060,784
Ensembl chr11:107,019,111...107,060,374 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr20:113,661,850...113,693,665 JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:20967760 RGD:5509622 NCBI chr16:4,112,795...4,121,764
Ensembl chr16:4,111,151...4,121,645 		JBrowse link
G APOA1 apolipoprotein A1 treatment ISO RGD PMID:26420354 RGD:25671437 NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G APOE apolipoprotein E ISO RGD PMID:21184788 RGD:6904141 NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438 		JBrowse link
G APOH apolipoprotein H ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr16:55,209,142...55,231,176 JBrowse link
G AR androgen receptor ameliorates ISO RGD PMID:36555703 RGD:407424611 NCBI chr  X:57,380,587...57,553,613
Ensembl chr  X:57,380,611...57,546,776 		JBrowse link
G ATG7 autophagy related 7 treatment ISO ClinVar Annotator: match by term: NAFLD1 ClinVar
RGD		 PMID:25741868 PMID:31787541 PMID:35405176 RGD:25823196 NCBI chr22:47,187,305...47,571,309
Ensembl chr22:47,325,614...47,571,070 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO RGD PMID:25222487 RGD:13703054 NCBI chr18:34,815,924...34,828,052
Ensembl chr18:34,816,027...34,830,924 		JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chr11:52,587,608...52,600,057
Ensembl chr11:52,587,143...52,600,756 		JBrowse link
G AZGP1 alpha-2-glycoprotein 1, zinc-binding treatment ISO RGD PMID:27982256 RGD:153352323 NCBI chr28:13,104,262...13,120,329
Ensembl chr28:13,104,323...13,120,363 		JBrowse link
G B3GAT1 beta-1,3-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24211274 NCBI chr 1:125,449,162...125,490,208
Ensembl chr 1:125,448,500...125,490,192 		JBrowse link
G BECN1 beclin 1 treatment ISO RGD PMID:31787541 RGD:25823196 NCBI chr16:63,469,187...63,482,627
Ensembl chr16:63,469,192...63,485,322 		JBrowse link
G C1QC complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:35789393 NCBI chr20:110,016,355...110,021,123
Ensembl chr20:110,016,362...110,020,854 		JBrowse link
G CA3 carbonic anhydrase 3 ISO protein:increased expression:liver RGD PMID:35108454 RGD:408426003 NCBI chr 8:80,805,296...80,816,127
Ensembl chr 8:80,805,134...80,816,190 		JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity ISO protein:increased expression:plasma RGD PMID:24927058 PMID:25813056 RGD:14995922 RGD:14995928 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 treatment
disease_progression		 ISO protein:increased expression:serum: RGD PMID:27639593 RGD:14995335 NCBI chr16:29,351,214...29,361,317 JBrowse link
G CCR2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism: :190A>G(human) RGD PMID:26591766 RGD:14995492 NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728 		JBrowse link
G CD14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20353583 NCBI chr23:43,264,917...43,266,825
Ensembl chr23:43,264,336...43,266,993 		JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:31027316 RGD:127345132 NCBI chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO mRNA:increased expression:liver RGD PMID:21216282 PMID:24280415 RGD:11041117 RGD:6893543 NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669 		JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr10:50,146,038...50,312,870
Ensembl chr10:50,143,971...50,311,767 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:17241878 PMID:23703580 RGD:2308807 RGD:8552713 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:29289645 PMID:31211621 RGD:14747028 NCBI chr 1:5,704,275...5,784,077
Ensembl chr 1:5,730,853...5,784,337 		JBrowse link
G CREB1 cAMP responsive element binding protein 1 treatment ISO RGD PMID:28770225 RGD:401940144 NCBI chr10:93,316,774...93,395,187
Ensembl chr10:93,316,840...93,388,832 		JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:28824718 RGD:27095887 NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15706422 NCBI chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chr26:8,727,996...8,733,254 JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO protein:decreased expression:liver (mouse) RGD PMID:29710028 RGD:25671411 NCBI chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:25317811 PMID:26428356 PMID:26703967 PMID:28458161 RGD:11573192 RGD:14700871 RGD:14700881 NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211 		JBrowse link
G DGAT2 diacylglycerol O-acyltransferase 2 treatment ISO RGD PMID:17618857 PMID:24166662 PMID:26394137 RGD:10400900 RGD:10401056 RGD:329955565 NCBI chr 1:66,985,413...67,018,058
Ensembl chr 1:66,985,466...67,021,182 		JBrowse link
G ECH1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr 6:33,439,490...33,449,349
Ensembl chr 6:33,439,682...33,449,272 		JBrowse link
G EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr28:15,225,768...15,269,692
Ensembl chr28:15,233,909...15,269,594 		JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:34274649 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO RGD PMID:24351808 RGD:9588320 NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573 		JBrowse link
G FASN fatty acid synthase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr16:73,988,410...74,008,374
Ensembl chr16:73,982,899...74,006,551 		JBrowse link
G FGF21 fibroblast growth factor 21 severity ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:26797127 PMID:29289645 PMID:32195457 RGD:25330354 NCBI chr 6:42,006,125...42,008,749
Ensembl chr 6:42,006,064...42,008,736 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 severity ISO RGD PMID:32195457 RGD:25330354 NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508 		JBrowse link
G FOLR2 folate receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:30794826 NCBI chr 1:63,436,430...63,441,924
Ensembl chr 1:63,436,684...63,441,743 		JBrowse link
G FOXO1 forkhead box O1 treatment ISO associated with Type 1 Diabetes Mellitus RGD PMID:30186875 RGD:14401598 NCBI chr 3:18,916,849...19,027,776
Ensembl chr 3:18,920,651...19,027,707 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:liver		 CTD
RGD		 PMID:23329013 PMID:35654975 RGD:329951008 NCBI chr 5:39,487,304...39,900,238
Ensembl chr 5:39,487,418...39,725,747 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 treatment ISO associated with type 2 diabetes mellitus RGD PMID:27840945 PMID:30100243 RGD:14695535 RGD:14695545 NCBI chr16:63,380,921...63,392,122
Ensembl chr16:63,381,382...63,391,540 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:20211032 RGD:10449177 NCBI chr  X:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		JBrowse link
G GGT1 gamma-glutamyltransferase 1 ISO protein:increased expression:serum: RGD PMID:23730648 RGD:14747013
G GNMT glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31086990 NCBI chr17:29,196,142...29,199,728
Ensembl chr17:29,196,321...29,198,947 		JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 9:105,049,954...105,083,750
Ensembl chr 9:105,049,711...105,113,374 		JBrowse link
G GPT glutamic--pyruvic transaminase severity ISO protein:increased expression:liver,serum
CTD Direct Evidence: marker/mechanism
protein:increased activity:plasma		 RGD
CTD		 PMID:18710424 PMID:22922605 PMID:24768200 PMID:35654975 RGD:14975160 RGD:14975250 RGD:14975251 NCBI chr 8:138,716,802...138,721,421
Ensembl chr 8:138,718,767...138,721,251 		JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 ISO protein:increased expression:liver,serum
protein:increased activity:plasma		 RGD PMID:18710424 PMID:22922605 RGD:14975250 RGD:14975251 NCBI chr 5:32,743,850...32,791,299
Ensembl chr 5:32,744,065...32,791,479 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24597775 RGD:11352823 NCBI chr22:10,754,976...10,756,617 JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:24622831 RGD:10401873 NCBI chr 8:28,778,713...28,851,907 JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23643483 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO protein:decreased expression:liver RGD PMID:24782632 RGD:14694831 NCBI chr14:81,411,620...81,468,415
Ensembl chr14:81,411,648...81,472,257 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:increased expression:liver (human)
associated with iron overload;protein:increased expression:serum (human)		 RGD PMID:28051796 PMID:29871592 RGD:15042878 RGD:15042880 NCBI chr 6:30,214,820...30,218,100
Ensembl chr 6:30,215,563...30,217,996 		JBrowse link
G HFE homeostatic iron regulator ISO DNA:missense mutation:CDS:p.H63D
DNA:missense mutation:cds:p.C282Y (human)		 RGD PMID:9453491 PMID:11473047 RGD:1601452 RGD:8694420 NCBI chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase disease_progression ISO mRNA:decreased expression:liver (rat) RGD PMID:19913842 PMID:23117815 RGD:15045604 RGD:5508690 NCBI chr 4:69,664,784...69,690,343
Ensembl chr 4:69,665,417...69,688,686 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A treatment ISO associated with morbid obesity;mRNA:decreased expression:liver RGD PMID:33081272 PMID:35732081 RGD:401900305 RGD:401900606 NCBI chr 3:24,820,029...24,884,472
Ensembl chr 3:24,820,035...24,883,432 		JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO associated with morbid obesity;mRNA:decreased expression:liver RGD PMID:33081272 RGD:401900305 NCBI chr10:117,132,919...117,152,132
Ensembl chr10:117,133,195...117,149,681 		JBrowse link
G IDE insulin degrading enzyme ISO RGD PMID:26576191 RGD:13792804 NCBI chr 9:85,722,728...85,843,247
Ensembl chr 9:85,721,886...85,843,117 		JBrowse link
G IFI30 IFI30 lysosomal thiol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr 6:16,644,361...16,649,599
Ensembl chr 6:16,644,392...16,649,751 		JBrowse link
G IFNA2 interferon alpha 2 ISO associated with obesity, protein:increased expression:serum (human) RGD PMID:30602382 RGD:21406431 NCBI chr12:58,468,018...58,469,825 JBrowse link
G IGF1 insulin like growth factor 1 susceptibility ISO associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) RGD PMID:24275070 RGD:12904726 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308 		JBrowse link
G IGF1R insulin like growth factor 1 receptor susceptibility ISO associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) RGD PMID:24275070 RGD:12904726 NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930 		JBrowse link
G IGFBP7 insulin like growth factor binding protein 7 treatment
disease_progression		 ISO mRNA:increased expression:liver (rat)
mRNA:increased expression:liver (human)		 RGD PMID:31397492 PMID:31805951 PMID:35312185 PMID:36034446 RGD:401960873 RGD:401960876 RGD:401960878 RGD:401960879 NCBI chr 7:11,617,096...11,694,530 JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21115542 NCBI chr  X:128,781,975...128,816,039
Ensembl chr  X:128,787,785...128,806,083 		JBrowse link
G IL10 interleukin 10 severity ISO associated with morbid obesity RGD PMID:25894568 RGD:14975151 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:serum RGD PMID:18802068 RGD:4145478 NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869 		JBrowse link
G IL18 interleukin 18 severity
treatment		 ISO protein:increased expression:plasma RGD PMID:20422882 PMID:24006666 PMID:28660148 RGD:14696664 RGD:14696674 RGD:8655964 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G IL1B interleukin 1 beta no_association ISO DNA:SNPs:CDS:rs1143634 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:CDS:rs16944 (human)		 RGD
CTD		 PMID:27730688 PMID:32613381 RGD:14975293 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL1RN interleukin 1 receptor antagonist severity ISO associated with morbid obesity, protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22027586 PMID:35654975 RGD:14401582 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G IL3 interleukin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr23:34,894,630...34,899,105 JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258 		JBrowse link
G IL6 interleukin 6 ISO DNA:SNPs:promoter:rs10499563, rs1800795 (human)
mRNA,protein:increased expression:liver,plasma		 RGD PMID:18510618 PMID:27730688 RGD:14975293 RGD:7829808 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:32613381 NCBI chr 1:1,965,128...1,969,090 JBrowse link
G INSR insulin receptor treatment
susceptibility		 ISO DNA:deletion:cds:codon 306 in exon 4 (mouse)
DNA:deletion:cds: (codon 306, exon 4) (mouse)		 RGD PMID:28468951 PMID:29325294 RGD:14700929 RGD:14700932 NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592 		JBrowse link
G IRS1 insulin receptor substrate 1 ISO RGD PMID:20846698 RGD:6483014 NCBI chr10:112,748,283...112,812,368 JBrowse link
G IRS2 insulin receptor substrate 2 ISO RGD PMID:20846698 RGD:6483014 NCBI chr 3:88,045,439...88,076,468 JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:18782535 PMID:28100771 RGD:6483030 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		JBrowse link
G KLB klotho beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr27:10,860,301...10,933,480
Ensembl chr27:10,861,760...10,903,400 		JBrowse link
G KRT18 keratin 18 disease_progression ISO protein:increased expression:serum (human)
protein:increased degradation:serum (rat)
associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat)		 RGD PMID:29989845 PMID:30089409 PMID:30149902 PMID:30839434 RGD:18337481 RGD:18337482 RGD:18337497 RGD:26884460 NCBI chr11:49,073,733...49,081,706 JBrowse link
G LAMA1 laminin subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr18:65,996,233...66,162,510 JBrowse link
G LDLR low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20938947 PMID:23127599 PMID:23285030 NCBI chr 6:10,062,204...10,091,780
Ensembl chr 6:10,062,790...10,091,377 		JBrowse link
G LEP leptin ISO associated with type 2 diabetes mellitus;protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
OMIM:613282 | OMIM:613387
associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human)
associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma		 RGD
CTD
MouseDO		 PMID:18713300 PMID:20476641 PMID:24211274 PMID:30052309 PMID:36105184 RGD:2311137 RGD:25330346 RGD:25330349 NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220 		JBrowse link
G LEPR leptin receptor susceptibility ISO DNA:SNP:cds:p.Q223R(human)
OMIM:613282 | OMIM:613387
DNA:intron:c.2673+1118C>T (rs6700896) (human)		 RGD
MouseDO		 PMID:22215535 PMID:27257426 RGD:14696694 RGD:21079462 NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229 		JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr19:13,121,261...13,127,663
Ensembl chr19:13,121,297...13,127,679 		JBrowse link
G LOC103223491 peroxisome proliferator-activated receptor alpha treatment ISO RGD PMID:31211621 RGD:14747028 NCBI chr19:28,614,892...28,709,272
Ensembl chr19:28,615,413...28,708,763 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23643483 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LOC103230356 uncharacterized LOC103230356 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29515023 NCBI chr25:29,230,358...29,380,617
Ensembl chr25:29,233,558...29,379,922 		JBrowse link
G LOC103231165 isocitrate dehydrogenase (NADP(+)) 2 severity
susceptibility		 ISO RGD PMID:29861476 PMID:31064654 RGD:14985251 RGD:14985252 NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657 		JBrowse link
G LPL lipoprotein lipase treatment ISO RGD PMID:27978932 PMID:30214514 RGD:13793398 RGD:13794377 NCBI chr 8:18,009,049...18,038,315
Ensembl chr 8:18,009,093...18,038,598 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 treatment ISO associated with Diabetes Mellitus, Type 2;
protein:increased phosphorylation:adipose tissue, liver (rat)		 RGD PMID:24404139 PMID:27909723 RGD:13506784 RGD:150340686 NCBI chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase disease_progression ISO RGD PMID:24845607 RGD:14694829 NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093 		JBrowse link
G MFN2 mitofusin 2 treatment ISO RGD PMID:26401075 RGD:13204743 NCBI chr20:119,787,700...119,818,455
Ensembl chr20:119,787,370...119,816,693 		JBrowse link
G MLXIPL MLX interacting protein like treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr28:9,442,520...9,465,772 JBrowse link
G MLYCD malonyl-CoA decarboxylase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 5:69,312,978...69,329,346
Ensembl chr 5:69,313,062...69,329,102 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767 		JBrowse link
G MRTFA myocardin related transcription factor A ISO CTD Direct Evidence: therapeutic CTD PMID:33779332 NCBI chr19:22,980,071...23,197,199
Ensembl chr19:22,981,216...23,034,179 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility
severity		 ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
DNA:SNP: :1298A > C (human)		 RGD PMID:17563923 PMID:24488901 RGD:14696706 RGD:14696748 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G MTTP microsomal triglyceride transfer protein ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:15094225 PMID:35654975 RGD:1581245 NCBI chr 7:47,706,591...47,765,154
Ensembl chr 7:47,717,089...47,765,149 		JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:27982256 RGD:153352323 NCBI chr21:75,160,748...75,195,781
Ensembl chr21:75,158,596...75,196,025 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:23592516 PMID:25294219 RGD:10412712 NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339 		JBrowse link
G NGF nerve growth factor ISO protein:increased expression:plasma RGD PMID:22434756 RGD:401976546 NCBI chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO OMIM:613282 | OMIM:613387
CTD Direct Evidence: therapeutic		 MouseDO
CTD		 PMID:34274649 NCBI chr25:84,431,436...84,463,387
Ensembl chr25:84,434,527...84,463,249 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA, protein:increased expression:liver (mouse) RGD PMID:21948338 RGD:5509578 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:28932253 PMID:29289645 RGD:13434914 NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 disease_progression
treatment
susceptibility
severity		 ISO mRNA:decreased expression:liver (rat)
mRNA:increased expression:liver (rat)
DNA:deletion:cds:exon 9 (mouse)
CTD Direct Evidence: marker/mechanism
cholic acid fed FXR-/- mouse		 RGD
CTD		 PMID:12971955 PMID:23117815 PMID:23700488 PMID:29142166 PMID:29743187 More... RGD:14696797 RGD:14701033 RGD:15045573 RGD:15045604 RGD:15090799 NCBI chr11:95,792,428...95,877,989
Ensembl chr11:95,792,996...95,878,293 		JBrowse link
G NTS neurotensin ISO protein:increased expression:serum RGD PMID:35769889 RGD:596992335 NCBI chr11:81,270,147...81,278,327
Ensembl chr11:81,270,593...81,277,713 		JBrowse link
G PDK4 pyruvate dehydrogenase kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr21:53,445,607...53,458,729
Ensembl chr21:53,445,457...53,460,776 		JBrowse link
G PEMT phosphatidylethanolamine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29416063 NCBI chr16:16,540,096...16,626,251
Ensembl chr16:16,539,985...16,611,279 		JBrowse link
G PGRMC1 progesterone receptor membrane component 1 ISO OMIM:613282 | OMIM:613387 MouseDO
G PHYH phytanoyl-CoA 2-hydroxylase treatment ISO RGD PMID:29031784 RGD:13831310 NCBI chr 9:13,309,059...13,331,606
Ensembl chr 9:13,308,951...13,331,504 		JBrowse link
G PKLR pyruvate kinase L/R treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr20:8,540,228...8,547,184
Ensembl chr20:8,540,763...8,545,884 		JBrowse link
G PLA2G7 phospholipase A2 group VII ISO protein:increased expression:serum RGD PMID:22112193 RGD:6482771 NCBI chr17:25,538,645...25,571,230
Ensembl chr17:25,538,438...25,574,269 		JBrowse link
G PNPLA3 patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase susceptibility ISO DNA:SNPs: :
ClinVar Annotator: match by term: NAFLD1 | ClinVar Annotator: match by term: Susceptibility to Nonalcoholic Fatty Liver Disease		 RGD
ClinVar		 PMID:18820647 PMID:21381068 PMID:24033266 PMID:24917523 PMID:25290313 More... RGD:13463463 NCBI chr19:26,435,302...26,458,368
Ensembl chr19:26,435,599...26,462,210 		JBrowse link
G PON2 paraoxonase 2 treatment ISO RGD PMID:22536512 RGD:8661257 NCBI chr21:53,607,353...53,637,056
Ensembl chr21:53,607,541...53,639,896 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603006
G PPARD peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16574099 PMID:29289645 NCBI chr17:36,695,546...36,779,554
Ensembl chr17:36,695,494...36,779,577 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment
susceptibility		 ISO associated with Obesity; DNA:missense mutation:cds:p.G482S rs8192678 (human) RGD PMID:21373642 PMID:23269818 PMID:26394137 RGD:329955565 RGD:6484527 RGD:7241847 NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582 		JBrowse link
G PPARGC1B PPARG coactivator 1 beta treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr23:52,337,802...52,462,553
Ensembl chr23:52,428,052...52,455,089 		JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor ISO OMIM:613282 | OMIM:613387 MouseDO NCBI chr 2:686,413...687,865
Ensembl chr 2:686,129...687,892 		JBrowse link
G PRDX3 peroxiredoxin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:34678374 NCBI chr 9:111,957,865...111,968,514
Ensembl chr 9:111,955,952...111,968,475 		JBrowse link
G PRF1 perforin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24211274 NCBI chr 9:60,692,544...60,698,000
Ensembl chr 9:60,692,600...60,698,465 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr 6:12,743,752...12,759,155 JBrowse link
G PRKCA protein kinase C alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr16:54,638,548...55,144,372
Ensembl chr16:54,642,729...54,948,256 		JBrowse link
G PRKCD protein kinase C delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr22:14,561,401...14,592,877
Ensembl chr22:14,565,282...14,592,873 		JBrowse link
G PRKCE protein kinase C epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr14:61,022,903...61,570,390
Ensembl chr14:61,026,017...61,242,343 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:26023714 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 treatment ISO RGD PMID:26723251 RGD:11086779 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G RAG2 recombination activating 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24211274 NCBI chr 1:28,645,175...28,653,823
Ensembl chr 1:28,649,930...28,651,513 		JBrowse link
G RARRES2 retinoic acid receptor responder 2 disease_progression ISO mRNA:decreased expression:liver
mRNA, protein:decreased expression:liver,serum		 RGD PMID:23507574 RGD:15036822 NCBI chr21:118,487,199...118,490,561
Ensembl chr21:118,487,506...118,489,516 		JBrowse link
G RDX radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr 1:101,554,640...101,647,765
Ensembl chr 1:101,554,334...101,623,093 		JBrowse link
G RETN resistin ISO protein:increased expression:serum RGD PMID:20560816 RGD:7207249 NCBI chr 6:7,154,771...7,156,459
Ensembl chr 6:7,155,337...7,156,505 		JBrowse link
G SAMM50 SAMM50 sorting and assembly machinery component ISO DNA:SNPs: : RGD PMID:26740948 RGD:13463463 NCBI chr19:26,467,319...26,509,695
Ensembl chr19:26,467,278...26,510,168 		JBrowse link
G SCARB1 scavenger receptor class B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23127599 NCBI chr11:120,134,485...120,223,512
Ensembl chr11:120,134,874...120,216,904 		JBrowse link
G SCD stearoyl-CoA desaturase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 9:93,380,812...93,398,860
Ensembl chr 9:93,380,914...93,398,912 		JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr24:72,158,521...72,171,139
Ensembl chr24:72,156,784...72,163,500 		JBrowse link
G SERPINB2 serpin family B member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr18:15,906,461...15,922,636
Ensembl chr18:15,906,469...15,922,594 		JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:blood: RGD PMID:25091195 RGD:13208545 NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202 		JBrowse link
G SIDT2 SID1 transmembrane family member 2 ISO OMIM:613282 | OMIM:613387 MouseDO NCBI chr 1:108,550,091...108,568,470
Ensembl chr 1:108,549,792...108,569,172 		JBrowse link
G SIRT1 sirtuin 1 severity
treatment		 ISO protein:decreased expression:liver
CTD Direct Evidence: therapeutic
associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue		 RGD
CTD		 PMID:17498258 PMID:20033348 PMID:22902550 PMID:26026874 RGD:9585663 RGD:9585746 RGD:9586021 NCBI chr 9:63,463,059...63,497,893
Ensembl chr 9:63,462,389...63,497,867 		JBrowse link
G SIRT2 sirtuin 2 treatment ISO associated with Obesity RGD PMID:22327056 RGD:9586049 NCBI chr 6:33,493,106...33,518,793
Ensembl chr 6:33,493,079...33,518,647 		JBrowse link
G SIRT3 sirtuin 3 treatment ISO associated with Obesity RGD PMID:22327056 RGD:9586049 NCBI chr 1:25,740...49,471
Ensembl chr 1:26,927...48,944 		JBrowse link
G SIRT4 sirtuin 4 ISO RGD PMID:20651844 RGD:9586052 NCBI chr11:115,640,976...115,659,074
Ensembl chr11:115,640,555...115,658,687 		JBrowse link
G SIRT6 sirtuin 6 treatment ISO RGD PMID:21373642 RGD:6484527 NCBI chr 6:3,924,230...3,932,583
Ensembl chr 6:3,924,230...3,932,590 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 treatment ISO RGD PMID:32429274 RGD:597538527 NCBI chr23:35,123,442...35,173,254
Ensembl chr23:35,124,433...35,173,264 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 treatment ISO RGD PMID:32429274 RGD:597538527 NCBI chr23:35,197,909...35,224,466
Ensembl chr23:35,197,985...35,223,137 		JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:15094225 PMID:24597775 RGD:11352823 RGD:1581245 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 disease_progression
treatment		 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:liver (mouse)		 CTD
RGD		 PMID:23603006 PMID:24633463 PMID:26394137 PMID:29173234 RGD:329955565 RGD:401827867 NCBI chr16:16,847,603...16,874,239
Ensembl chr16:16,845,491...16,859,554 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO RGD PMID:18782535 RGD:6483030 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		JBrowse link
G STC2 stanniocalcin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097666 NCBI chr23:75,475,020...75,489,727
Ensembl chr23:75,475,022...75,488,678 		JBrowse link
G TFRC transferrin receptor ISO protein:increased expression:liver RGD PMID:23805238 RGD:11541090 NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584 		JBrowse link
G TG thyroglobulin sexual_dimorphism ISO RGD PMID:30016121 RGD:401976499 NCBI chr 8:127,293,797...127,567,218
Ensembl chr 8:127,293,834...127,567,771 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 PMID:32613381 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		JBrowse link
G TLR2 toll like receptor 2 sexual_dimorphism ISO mRNA:increased expression:liver RGD PMID:33770523 RGD:597538511 NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795 		JBrowse link
G TLR4 toll like receptor 4 treatment
severity		 ISO mRNA:increased expression:liver: RGD PMID:22253482 PMID:23301938 PMID:25413054 RGD:14700656 RGD:14700658 RGD:7777122 NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515 		JBrowse link
G TM6SF2 transmembrane 6 superfamily member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531328 NCBI chr 6:17,730,273...17,740,557
Ensembl chr 6:17,729,925...17,740,006 		JBrowse link
G TNF tumor necrosis factor treatment
severity		 ISO associated with morbid obesity
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum, liver (rat)		 RGD
CTD		 PMID:19034968 PMID:25219124 PMID:25894568 PMID:32613381 RGD:10450574 RGD:14975151 RGD:14995482
G TNFAIP3 TNF alpha induced protein 3 severity ISO RGD PMID:27253414 RGD:151347600 NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20353583 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497 		JBrowse link
G TRIB1 tribbles pseudokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr 8:120,013,757...120,021,823
Ensembl chr 8:120,014,339...120,019,887 		JBrowse link
G TRIB3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr 2:35,512,911...35,530,856
Ensembl chr 2:35,512,861...35,530,966 		JBrowse link
G UCP2 uncoupling protein 2 treatment ISO mRNA, protein:increased expression:liver
mRNA:increased expression:liver		 RGD PMID:18308829 PMID:18543254 PMID:21359922 RGD:7175312 RGD:7204434 RGD:7204435 NCBI chr 1:65,238,311...65,246,841
Ensembl chr 1:65,235,775...65,246,450 		JBrowse link
G VDR vitamin D receptor treatment ISO mRNA,protein:increased expression:hepatocyte: RGD PMID:27245430 RGD:14401753 NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		JBrowse link
G VLDLR very low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr12:76,900,551...76,933,601
Ensembl chr12:76,899,189...76,933,584 		JBrowse link
G XBP1 X-box binding protein 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:24097666 PMID:26394137 RGD:329955565 NCBI chr19:11,670,605...11,677,168 JBrowse link
metabolic dysfunction-associated steatohepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 treatment ISO RGD PMID:29505790 RGD:19165131 NCBI chr12:34,587,123...34,734,936
Ensembl chr12:34,587,118...34,731,642 		JBrowse link
G ACACA acetyl-CoA carboxylase alpha treatment ISO RGD PMID:28458350 RGD:401799674 NCBI chr16:30,374,166...30,704,635
Ensembl chr16:30,452,343...30,705,004 		JBrowse link
G ACER3 alkaline ceramidase 3 treatment
disease_progression		 ISO mRNA:increased expression:liver RGD PMID:31949129 RGD:35673324 NCBI chr 1:68,072,323...68,228,036
Ensembl chr 1:68,072,544...68,227,736 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO mRNA:increased expression:liver (mouse) RGD PMID:28100771 RGD:127285675 NCBI chr 9:82,358,937...82,376,289
Ensembl chr 9:82,359,086...82,372,446 		JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment
susceptibility		 ISO associated with obesity;protein:decreased expression:liver (mouse)
mRNA:decreased expression:liver (rat)		 RGD PMID:18666257 PMID:19763702 PMID:20606728 PMID:20965162 PMID:30131158 RGD:21076282 RGD:25330094 RGD:25330095 RGD:25440494 RGD:25824942 NCBI chr11:1,802,694...1,836,703
Ensembl chr11:1,738,026...1,837,060 		JBrowse link
G ADRA2A adrenoceptor alpha 2A ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr 9:104,015,577...104,019,364
Ensembl chr 9:104,016,580...104,017,932 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 treatment ISO RGD PMID:33865013 RGD:407987425 NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698 		JBrowse link
G APOA1 apolipoprotein A1 treatment ISO human gene in mouse model
mRNA, protein: increased expression:liver, serum (rat)		 RGD PMID:24793484 PMID:30187493 RGD:21408551 RGD:25671434 NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G ATG12 autophagy related 12 treatment ISO RGD PMID:34052187 RGD:407532640 NCBI chr23:19,073,545...19,087,603
Ensembl chr23:19,072,401...19,087,625 		JBrowse link
G ATG5 autophagy related 5 treatment ISO RGD PMID:34052187 RGD:407532640 NCBI chr13:67,482,538...67,619,201
Ensembl chr13:67,482,595...67,617,902 		JBrowse link
G ATG7 autophagy related 7 treatment ISO RGD PMID:34052187 RGD:407532640 NCBI chr22:47,187,305...47,571,309
Ensembl chr22:47,325,614...47,571,070 		JBrowse link
G AZGP1 alpha-2-glycoprotein 1, zinc-binding treatment ISO associated with type 2 diabetes mellitus; RGD PMID:29608898 RGD:153352320 NCBI chr28:13,104,262...13,120,329
Ensembl chr28:13,104,323...13,120,363 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO protein:increased expression:liver (human) RGD PMID:29307797 RGD:153297819 NCBI chr 1:93,692,239...93,711,905 JBrowse link
G BNIP3L BCL2 interacting protein 3 like treatment ISO RGD PMID:34052187 RGD:407532640 NCBI chr 8:24,497,311...24,521,424
Ensembl chr 8:24,497,351...24,523,553 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility ISO mRNA:increased expression:liver
mRNA:increased expression:liver (rat)
RNA:increased expression:liver:
mRNA:altered expression:liver (mouse)		 RGD PMID:20606728 PMID:24294355 PMID:24429361 PMID:30369082 RGD:14975280 RGD:14995462 RGD:21076282 RGD:407446378 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:serum: RGD PMID:27639593 RGD:14995335 NCBI chr16:29,351,214...29,361,317 JBrowse link
G CD68 CD68 molecule disease_progression
severity		 ISO protein:increased expression:liver (rat)
protein:increased expression:blood serum (human)
protein:decreased expression:liver (human)
protein:increased expression:liver (mouse)		 RGD PMID:21635548 PMID:24294355 PMID:28951310 PMID:31337151 RGD:407420265 RGD:407420270 RGD:407446377 RGD:407446378 NCBI chr16:6,956,633...6,959,645
Ensembl chr16:6,957,212...6,959,042 		JBrowse link
G CLDN1 claudin 1 ISO mRNA:increased expression:distal colon (rat) RGD PMID:31189495 RGD:26884351 NCBI chr15:84,518,464...84,533,587
Ensembl chr15:84,516,478...84,532,969 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ameliorates
treatment		 ISO RGD PMID:28100771 PMID:33315911 RGD:127285675 RGD:407420266 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A treatment ISO RGD PMID:28458350 RGD:401799674 NCBI chr 1:5,704,275...5,784,077
Ensembl chr 1:5,730,853...5,784,337 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 severity ISO mRNA,protein:increased expression:liver,serum RGD PMID:25048951 RGD:27095890 NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO mRNA:increased expression:liver (human) RGD PMID:28774887 RGD:15045601 NCBI chr10:104,682,437...104,723,781
Ensembl chr10:104,682,673...104,726,687 		JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 treatment ISO mRNA, protein:altered expression:liver (rat) treatment with INT-767
mRNA:increased expression:liver (human)		 RGD PMID:28774887 PMID:30038487 RGD:15045601 RGD:15092090 NCBI chr 8:54,475,801...54,489,329
Ensembl chr 8:54,477,105...54,485,649 		JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 treatment ISO mRNA, protein:altered expression:liver (rat) treatment with INT-767 RGD PMID:30038487 RGD:15092090 NCBI chr10:104,141,177...104,145,557
Ensembl chr10:104,144,421...104,145,413 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 disease_progression ISO mRNA,protein:increased expression:liver (rat) RGD PMID:28951310 RGD:407420265 NCBI chr12:12,920,705...12,925,888
Ensembl chr12:12,920,710...12,927,431 		JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO associated with morbid obesity;mRNA:decreased expression:liver RGD PMID:33081272 RGD:401900305 NCBI chr10:117,132,919...117,152,132
Ensembl chr10:117,133,195...117,149,681 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:blood serum (human) RGD PMID:21635548 RGD:407420270 NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263 		JBrowse link
G IFNG interferon gamma ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
G IL10 interleukin 10 ISO DNA:SNP:promoter:-1082A>G (rs1800896) (human) RGD PMID:28852433 RGD:14975143 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL1B interleukin 1 beta ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL6 interleukin 6 ameliorates ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:28100771 PMID:28852433 RGD:127285675 RGD:14975143 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G IRF5 interferon regulatory factor 5 ISO mRNA:increased expression:liver RGD PMID:27942586 RGD:40924562 NCBI chr21:97,536,803...97,549,576
Ensembl chr21:97,537,790...97,549,945 		JBrowse link
G JAK2 Janus kinase 2 ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		JBrowse link
G KRT18 keratin 18 severity ISO protein:increased degradation:plasma (human)
protein:increased degradation:serum (human)
protein:altered degradation:liver, serum (rat)
protein:increased expression:serum (human)
associated with morbid obesity;protein:increased degradation:plasma (human)		 RGD
MouseDO		 PMID:18995215 PMID:19333204 PMID:19585618 PMID:21993925 PMID:24071521 More... RGD:18337489 RGD:18337490 RGD:18337493 RGD:18337495 RGD:18337499 RGD:27226810 NCBI chr11:49,073,733...49,081,706 JBrowse link
G LEPR leptin receptor susceptibility ISO DNA:SNPs: : (rs1137100, rs1137101) (human) RGD PMID:23278404 RGD:14696696 NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229 		JBrowse link
G LOC103231165 isocitrate dehydrogenase (NADP(+)) 2 ameliorates ISO RGD PMID:28415887 RGD:14985253 NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657 		JBrowse link
G LOC103231892 metalloproteinase inhibitor 1 treatment ISO RGD PMID:33315911 RGD:407420266 NCBI chr  X:44,759,412...44,763,243
Ensembl chr  X:44,760,531...44,765,571 		JBrowse link
G MC4R melanocortin 4 receptor ISO MouseDO NCBI chr18:19,380,054...19,386,412
Ensembl chr18:19,380,849...19,381,847 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO RGD PMID:32015322 RGD:151356909
G MLXIPL MLX interacting protein like treatment ISO RGD PMID:28458350 RGD:401799674 NCBI chr28:9,442,520...9,465,772 JBrowse link
G MMP13 matrix metallopeptidase 13 ISO mRNA:altered expression:liver (mouse) RGD PMID:24294355 RGD:407446378 NCBI chr 1:94,322,473...94,370,665
Ensembl chr 1:94,322,979...94,334,747 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA:altered expression:liver (mouse) RGD PMID:24294355 RGD:407446378 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor treatment ISO RGD PMID:25790822 RGD:150519907 NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:25385666 RGD:21201312 NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 treatment ISO mRNA, protein:altered expression:liver (rat) treatment with INT-767 RGD PMID:30038487 RGD:15092090 NCBI chr 7:50,589,494...50,711,472
Ensembl chr 7:50,589,856...50,711,498 		JBrowse link
G NOX4 NADPH oxidase 4 susceptibility ISO mRNA:increased expression:liver (rat) RGD PMID:20606728 RGD:21076282 NCBI chr 1:80,470,418...80,642,513
Ensembl chr 1:80,470,826...80,642,722 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 treatment ISO mRNA, protein:altered expression:liver (rat) treatment with INT-767
mRNA:increased expression:liver (human)		 RGD PMID:28774887 PMID:30038487 RGD:15045601 RGD:15092090 NCBI chr11:95,792,428...95,877,989
Ensembl chr11:95,792,996...95,878,293 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 treatment ISO mRNA, protein:altered expression:liver (rat) treatment with INT-767 RGD PMID:30038487 RGD:15092090 NCBI chr 2:6,550,806...6,556,499
Ensembl chr 2:6,549,652...6,556,478 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:33315911 RGD:407420266 NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234 		JBrowse link
G PINK1 PTEN induced kinase 1 treatment ISO RGD PMID:34052187 RGD:407532640 NCBI chr20:111,902,135...111,919,082
Ensembl chr20:111,902,765...111,919,069 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase treatment ISO RGD PMID:34052187 RGD:407532640 NCBI chr13:88,856,056...90,329,379 JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO mRNA:increased expression:liver (human) RGD PMID:21425308 RGD:127229938 NCBI chr24:1,318,265...1,322,610
Ensembl chr24:1,318,216...1,322,462 		JBrowse link
G SCD stearoyl-CoA desaturase treatment ISO RGD PMID:28458350 RGD:401799674 NCBI chr 9:93,380,812...93,398,860
Ensembl chr 9:93,380,914...93,398,912 		JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO human gene in a mouse model
protein:increased expression:serum (human)		 RGD PMID:26121037 PMID:28365916 RGD:27226700 RGD:27226705 NCBI chr16:1,408,453...1,424,197 JBrowse link
G SMAD4 SMAD family member 4 ISO protein:increased expression:liver: RGD PMID:29696816 RGD:18937002 NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		JBrowse link
G SOD1 superoxide dismutase 1 susceptibility ISO mRNA:decreased expression:liver (rat) RGD PMID:20606728 RGD:21076282 NCBI chr 2:60,461,219...60,472,999 JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO mRNA:decreased expression:liver (rat) RGD PMID:20606728 PMID:24649902 RGD:21076282 RGD:26923960 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 treatment ISO mRNA, protein:altered expression:liver (rat) treatment with INT-767 RGD PMID:28458350 PMID:30038487 RGD:15092090 RGD:401799674 NCBI chr16:16,847,603...16,874,239
Ensembl chr16:16,845,491...16,859,554 		JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:29482933 RGD:15090806 NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO mRNA:increased expression:liver (rat)
mRNA:increased expression:liver (mouse)		 RGD PMID:20606728 PMID:28100771 RGD:127285675 RGD:21076282
G TXNIP thioredoxin interacting protein ISO RGD PMID:29482933 RGD:15090806 NCBI chr20:12,756,145...12,759,853
Ensembl chr20:12,756,053...12,761,177 		JBrowse link
G UBD ubiquitin D ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr17:43,061,243...43,065,135
Ensembl chr17:43,061,826...43,064,869 		JBrowse link
G ULK1 unc-51 like autophagy activating kinase 1 treatment ISO RGD PMID:34052187 RGD:407532640 NCBI chr11:127,276,172...127,304,270
Ensembl chr11:127,276,210...127,304,497 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      endocrine system disease 6101
        liver disease 2710
          steatotic liver disease 328
            metabolic dysfunction-associated steatotic liver disease 227
              metabolic dysfunction-associated steatohepatitis 63
Path 2
Term Annotations click to browse term
  disease 15416
    Developmental Disease 13512
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12674
        genetic disease 12376
          inherited metabolic disorder 5857
            lipid metabolism disorder 1710
              lipid storage disease 803
                steatotic liver disease 328
                  metabolic dysfunction-associated steatotic liver disease 227
                    metabolic dysfunction-associated steatohepatitis 63
paths to the root