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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 steatohepatitis
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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 steatohepatitides;   nonalcoholic steatohepatitis
 xref: EFO:1001249


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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 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha treatment IEP RGD PMID:28458350 RGD:401799674 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		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 1:152,504,186...152,606,591 		JBrowse link
G 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 		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 4:152,524,623...152,559,355 		JBrowse link
G 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 		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 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding treatment IEP associated with type 2 diabetes mellitus; RGD PMID:29608898 RGD:153352320 NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091 		JBrowse link
G 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 		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)		 RGD PMID:24429361 PMID:30369082 PMID:20606728 RGD:14975280, RGD:14995462, RGD:21076282 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		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 chr10:68,322,829...68,327,377 		JBrowse link
G 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 		JBrowse link
G 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 		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 1:200,565,613...200,627,055 		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 chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		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 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		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 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688 		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 9:75,860,677...75,863,168 		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 9:86,742,102...86,755,108 		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 1:134,029,772...134,058,025 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166 		JBrowse link
G 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 		JBrowse link
G Mc4r melanocortin 4 receptor ISS MouseDO NCBI chr18:60,419,832...60,421,719
Ensembl 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 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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:61,141,887...61,141,996 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 2:224,016,214...224,110,404 		JBrowse link
G 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 		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 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047 		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 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G 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 		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 1:243,269,747...243,282,562 		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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G 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 		JBrowse link
G 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 		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 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		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 chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G 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 		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 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G 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 		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 chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      endocrine system disease 6819
        liver disease 2957
          steatotic liver disease 344
            metabolic dysfunction-associated steatotic liver disease 226
              metabolic dysfunction-associated steatohepatitis 54
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          inherited metabolic disorder 6257
            lipid metabolism disorder 1741
              lipid storage disease 832
                steatotic liver disease 344
                  metabolic dysfunction-associated steatotic liver disease 226
                    metabolic dysfunction-associated steatohepatitis 54
paths to the root