Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 steatohepatitis
go back to main search page
Accession:DOID:0080547 term browser browse the term
Definition:A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis. (DO)
Synonyms:exact_synonym: MASH;   NASH;   non-alcoholic steatohepatitis;   nonalcoholic steatohepatitis
 xref: EFO:1001249;   MONDO:0007027


show annotations for term's descendants           Sort by:
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 chr 5:72,473,676...72,596,563
Ensembl chr 5:72,473,676...72,596,473 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha treatment IEP RGD PMID:28458350 RGD:401799674 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,511,857...69,773,888 		JBrowse link
G Acer3 alkaline ceramidase 3 disease_progression
treatment 		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 1:161,915,397...162,017,912 		JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO mRNA:increased expression:liver (mouse) RGD PMID:28100771 RGD:127285675 NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:241,159,724...241,172,503 		JBrowse link
G Adipor2 adiponectin receptor 2 susceptibility
treatment 		IEP
ISO 		mRNA:decreased expression:liver (rat)
associated with obesity;protein:decreased expression:liver (mouse) 		RGD PMID:20606728 PMID:19763702 PMID:18666257 PMID:20965162 PMID:30131158 RGD:21076282, RGD:25330094, RGD:25330095, RGD:25440494, RGD:25824942 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:154,172,567...154,231,666 		JBrowse link
G Adra2a adrenoceptor alpha 2A ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr 1:263,066,780...263,069,580
Ensembl chr 1:263,065,278...263,069,871 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 treatment ISO RGD PMID:33865013 RGD:407987425 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610 		JBrowse link
G 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 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729 		JBrowse link
G Atg12 autophagy related 12 treatment IEP RGD PMID:34052187 RGD:407532640 NCBI chr18:41,638,841...41,649,311
Ensembl chr18:41,635,835...41,649,261 		JBrowse link
G Atg5 autophagy related 5 treatment IEP RGD PMID:34052187 RGD:407532640 NCBI chr20:49,380,835...49,471,826
Ensembl chr20:49,380,813...49,471,821 		JBrowse link
G Atg7 autophagy related 7 treatment IEP RGD PMID:34052187 RGD:407532640 NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:149,391,390...149,598,319 		JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding treatment IEP associated with type 2 diabetes mellitus; RGD PMID:29608898 RGD:153352320 NCBI chr12:22,044,685...22,051,248
Ensembl chr12:22,044,751...22,053,020 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO protein:increased expression:liver (human) RGD PMID:29307797 RGD:153297819 NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:13,285,703...13,298,590 		JBrowse link
G Bnip3l BCL2 interacting protein 3 like treatment IEP RGD PMID:34052187 RGD:407532640 NCBI chr15:41,174,594...41,197,730
Ensembl chr15:45,334,537...45,373,282 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO
IEP 		RNA:increased expression:liver:
mRNA:increased expression:liver
mRNA:increased expression:liver (rat)
mRNA:altered expression:liver (mouse) 		RGD PMID:24429361 PMID:30369082 PMID:20606728 PMID:24294355 RGD:14975280, RGD:14995462, RGD:21076282, RGD:407446378 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G 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 chr10:68,738,651...68,824,884 		JBrowse link
G Cd68 Cd68 molecule disease_progression
severity 		IEP
ISO 		protein:increased expression:liver (rat)
protein:increased expression:blood serum (human)
protein:decreased expression:liver (human)
protein:increased expression:liver (mouse) 		RGD PMID:28951310 PMID:21635548 PMID:31337151 PMID:24294355 RGD:407420265, RGD:407420270, RGD:407446377, RGD:407446378 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,880,563...54,882,540 		JBrowse link
G Cldn1 claudin 1 IEP mRNA:increased expression:distal colon (rat) RGD PMID:31189495 RGD:26884351 NCBI chr11:87,926,376...87,941,533
Ensembl chr11:87,926,337...87,941,529 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ameliorates
treatment 		ISO
IEP 		RGD PMID:28100771 PMID:33315911 RGD:127285675, RGD:407420266 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A treatment IEP RGD PMID:28458350 RGD:401799674 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:209,993,875...210,056,326 		JBrowse link
G 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 chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO mRNA:increased expression:liver (human) RGD PMID:28774887 RGD:15045601 NCBI chr 9:83,712,402...83,743,222
Ensembl chr 9:83,713,293...83,743,215 		JBrowse link
G 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 5:24,174,505...24,184,202
Ensembl chr 5:24,174,505...24,184,202 		JBrowse link
G 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 9:83,311,246...83,315,608 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 disease_progression IEP mRNA,protein:increased expression:liver (rat) RGD PMID:28951310 RGD:407420265 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:38,453,041...38,458,790 		JBrowse link
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 9:94,190,109...94,204,087 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:blood serum (human) RGD PMID:21635548 RGD:407420270 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ameliorates ISO RGD PMID:28415887 RGD:14985253 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:143,439,323...143,467,248 		JBrowse link
G Ifng interferon gamma ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Il10 interleukin 10 treatment ISO
IEP 		DNA:SNP:promoter:-1082A>G (rs1800896) (human) RGD PMID:28852433 PMID:31861497 RGD:14975143, RGD:598130071 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il1b interleukin 1 beta ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il6 interleukin 6 ameliorates
treatment 		ISO
IEP 		DNA:SNP:promoter:-174G/C (human) RGD PMID:28852433 PMID:28100771 PMID:31861497 RGD:14975143, RGD:127285675, RGD:598130071 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO mRNA:increased expression:liver RGD PMID:27942586 RGD:40924562 NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:59,081,357...59,112,552 		JBrowse link
G Jak2 Janus kinase 2 ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762 		JBrowse link
G Krt18 keratin 18 severity ISO
IEP
ISS 		protein:increased degradation:plasma (human)
protein:increased degradation:serum (human)
associated with morbid obesity;protein:increased degradation: plasma(human)
protein:increased expression:serum (human)
protein:altered degradation:liver, serum (rat) 		MouseDO
RGD		 PMID:19585618 PMID:24630506 PMID:19333204 PMID:18995215 PMID:21993925 More... RGD:18337489, RGD:18337490, RGD:18337493, RGD:18337495, RGD:18337499, RGD:27226810 NCBI chr 7:135,036,168...135,039,844
Ensembl chr 7:135,035,982...135,039,848
Ensembl chr10:135,035,982...135,039,848 		JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:SNPs: :rs1137100,rs1137101(human) RGD PMID:23278404 RGD:14696696 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215 		JBrowse link
G Mc4r melanocortin 4 receptor ISS MouseDO NCBI chr18:60,419,832...60,421,719 JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO RGD PMID:32015322 RGD:151356909 NCBI chr 2:185,884,840...185,912,532
Ensembl chr 2:185,908,168...185,938,782 		JBrowse link
G Mir21 microRNA 21 ameliorates ISO RNA:increased expression:liver RGD PMID:26338827 PMID:26338827 RGD:41404659, RGD:41404659 NCBI chr10:71,902,600...71,902,691 JBrowse link
G Mir221 microRNA 221 treatment
disease_progression 		ISO RGD PMID:30316865 PMID:22267590 RGD:18337274, RGD:151709001 NCBI chr  X:6,023,182...6,023,290
Ensembl chr  X:6,023,182...6,023,290 		JBrowse link
G Mir222 microRNA 222 disease_progression ISO RGD PMID:22267590 RGD:151709001 NCBI chr  X:6,022,621...6,022,723
Ensembl chr  X:6,022,621...6,022,723 		JBrowse link
G 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:65,151,383...65,151,492 		JBrowse link
G Mlxipl MLX interacting protein-like treatment IEP RGD PMID:28458350 RGD:401799674 NCBI chr12:27,178,158...27,213,675
Ensembl chr12:27,178,158...27,213,660 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO mRNA:altered expression:liver (mouse) RGD PMID:24294355 RGD:407446378 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:12,782,813...12,793,105 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO mRNA:altered expression:liver (mouse) RGD PMID:24294355 RGD:407446378 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor treatment ISO RGD PMID:25790822 RGD:150519907 NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:127,952,161...127,956,230 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment IEP RGD PMID:25385666 RGD:21201312 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090 		JBrowse link
G 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 2:226,689,745...226,783,088 		JBrowse link
G Nox4 NADPH oxidase 4 susceptibility IEP mRNA:increased expression:liver (rat) RGD PMID:20606728 RGD:21076282 NCBI chr 1:150,313,736...150,491,480
Ensembl chr 1:150,313,728...150,491,483 		JBrowse link
G 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 7:25,733,471...25,829,440
Ensembl chr 7:25,733,471...25,829,389 		JBrowse link
G Nwd1 NACHT and WD repeat domain containing 1 ISS MouseDO NCBI chr16:17,166,479...17,242,055
Ensembl chr16:17,157,352...17,270,664 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 treatment IEP mRNA, protein:altered expression:liver (rat) treatment with INT-767 RGD PMID:30038487 RGD:15092090 NCBI chr 3:182,348,572...182,354,521
Ensembl chr 3:182,348,572...182,354,561 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment IEP RGD PMID:33315911 RGD:407420266 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233 		JBrowse link
G Pink1 PTEN induced kinase 1 treatment IEP RGD PMID:34052187 RGD:407532640 NCBI chr 5:155,813,838...155,825,950
Ensembl chr 5:155,813,838...155,825,950 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase treatment IEP RGD PMID:34052187 RGD:407532640 NCBI chr 1:51,236,410...52,430,242
Ensembl chr 1:51,210,330...52,430,304 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO mRNA:increased expression:liver (human) RGD PMID:21425308 RGD:127229938 NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025 		JBrowse link
G Scd stearoyl-CoA desaturase treatment IEP RGD PMID:28458350 RGD:401799674 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:253,218,970...253,231,785 		JBrowse link
G 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 chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Smad4 SMAD family member 4 ISO protein:increased expression:liver: RGD PMID:29696816 PMID:29696816 RGD:18937002, RGD:18937002 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684 		JBrowse link
G Sod1 superoxide dismutase 1 susceptibility IEP mRNA:decreased expression:liver (rat) RGD PMID:20606728 RGD:21076282 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility IEP
ISO 		mRNA:decreased expression:liver (rat) RGD PMID:20606728 PMID:24649902 RGD:21076282, RGD:26923960 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G 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 chr10:45,507,152...45,529,164
Ensembl chr10:45,507,152...45,529,164 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment IEP RGD PMID:33315911 RGD:407420266 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:3,766,510...3,771,135 		JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:29482933 RGD:15090806 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194 		JBrowse link
G Tlr9 toll-like receptor 9 disease_progression ISO mRNA, protein:increased expression:serum, liver (mouse) RGD PMID:24650018 RGD:18337469 NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148 		JBrowse link
G 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 chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Txnip thioredoxin interacting protein ISO RGD PMID:29482933 RGD:15090806 NCBI chr 2:186,781,933...186,785,736
Ensembl chr 2:186,781,163...186,785,731 		JBrowse link
G Ubd ubiquitin D ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,390,600...1,413,965 		JBrowse link
G Ulk1 unc-51 like autophagy activating kinase 1 treatment IEP RGD PMID:34052187 RGD:407532640 NCBI chr12:51,511,492...51,537,746
Ensembl chr12:51,511,492...51,537,746 		JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16176196 RGD:617154590 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:160,047,982...160,177,757 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      endocrine system disease 0
        liver disease 2964
          steatotic liver disease 374
            metabolic dysfunction-associated steatotic liver disease 248
              metabolic dysfunction-associated steatohepatitis 71
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            lipid metabolism disorder 1908
              lipid storage disease 858
                steatotic liver disease 374
                  metabolic dysfunction-associated steatotic liver disease 248
                    metabolic dysfunction-associated steatohepatitis 71
paths to the root