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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 and alcohol associated liver disease
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Accession:DOID:0070508 term browser browse the term
Definition:A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. 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: Alcoholic Fatty Liver;   MetALD;   alcoholic steatohepatitis;   metabolic dysfunction and alcohol related liver disease
 alt_id: DOID:9006944
 xref: MESH:D005235;   MONDO:0957896


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metabolic dysfunction and alcohol associated liver disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:16115302 RGD:5686674 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169 		JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP
ISO 		RGD PMID:26115886 PMID:22013387 PMID:27220557 PMID:18755807 RGD:25330099, RGD:25440493, RGD:25824939, RGD:25824943 NCBI chr 4:154,195,440...154,261,141
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:28987868 RGD:407574728 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member susceptibility
treatment
severity 		IDA
ISO 		DNA:missense mutation:cds:p.E504K (human)
protein:altered processing:liver (mouse)
human transgene in mouse model 		RGD PMID:17058263 PMID:29063269 PMID:29156373 PMID:25457208 RGD:1599041, RGD:14696776, RGD:15036805, RGD:15036811 NCBI chr12:40,610,244...40,643,220
Ensembl chr12:40,610,224...40,643,219 		JBrowse link
G Ar androgen receptor severity IEP RGD PMID:11447013 RGD:407424619 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		JBrowse link
G Arrb2 arrestin, beta 2 ameliorates ISO protein:increased expression:hepatocyte RGD PMID:33871024 PMID:33871024 RGD:401938594, RGD:401938594 NCBI chr10:55,645,539...55,653,485
Ensembl chr10:55,645,357...55,653,487 		JBrowse link
G Atg7 autophagy related 7 exacerbates
ameliorates 		ISO RGD PMID:31235522 PMID:34303881 RGD:407445921, RGD:407445922 NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:149,391,390...149,598,319 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase IEP protein:increased expression:serum,liver RGD PMID:23083309 RGD:408425974 NCBI chr 2:26,594,852...26,614,429
Ensembl chr 2:26,594,854...26,614,715 		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 C1qc complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:35789393 NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:154,410,848...154,414,468 		JBrowse link
G C3 complement C3 severity
ameliorates 		IEP
ISO 		RGD PMID:36653797 PMID:17321001 RGD:408395146, RGD:408418721 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Ca3 carbonic anhydrase 3 IEP mRNA,protein:decreased expression:cytosol,liver RGD PMID:23083309 RGD:408425974 NCBI chr 2:88,491,666...88,501,299
Ensembl chr 2:88,491,670...88,500,524 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:25557254 PMID:30611703 RGD:14995489, RGD:407424594 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO RGD PMID:27859576 RGD:14401742 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594 		JBrowse link
G Cd14 CD14 molecule treatment IEP RGD PMID:23277536 RGD:407424596 NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,608,883...28,611,292 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:24280415 RGD:11041117 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G Cd68 Cd68 molecule treatment IEP RGD PMID:23277536 PMID:29399060 RGD:407424596, RGD:407424599 NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540 		JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum: RGD PMID:21806828 RGD:9491781 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G Ctsb cathepsin B IEP protein:increased activity:liver, cytosol (rat) RGD PMID:17850215 RGD:2315516 NCBI chr15:41,565,607...41,586,479
Ensembl chr15:41,565,611...41,586,478 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ameliorates ISO RGD PMID:33710653 RGD:401976495 NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,477,549...17,479,811 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26428356 PMID:24064383 PMID:25583360 RGD:14700870, RGD:14700884 NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:205,267,505...205,293,495 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO RGD PMID:22905112 RGD:9588654 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:27,716,797...27,763,119 		JBrowse link
G Fkbp5 FKBP prolyl isomerase 5 ameliorates ISO mRNA,protein:incrased expression:liver (human) RGD PMID:33710653 RGD:401976495 NCBI chr20:6,458,931...6,577,227
Ensembl chr20:6,458,940...6,543,118 		JBrowse link
G Foxo1 forkhead box O1 ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:138,462,697...138,541,419 		JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:19253830 RGD:11041633 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
G Klf5 KLF transcription factor 5 severity IEP RGD PMID:36653797 RGD:408395146 NCBI chr15:82,472,081...82,487,267
Ensembl chr15:82,472,065...82,487,262 		JBrowse link
G Lbp lipopolysaccharide binding protein treatment IEP RGD PMID:23277536 RGD:407424596 NCBI chr 3:167,373,786...167,400,941
Ensembl chr 3:167,373,924...167,401,518 		JBrowse link
G Ldlr low density lipoprotein receptor IEP protein:decreased expression: liver (rat) RGD PMID:20028367 RGD:21410185 NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:28,546,146...28,570,675 		JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:26867493 RGD:25671474 NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178 		JBrowse link
G Nlrc5 NLR family, CARD domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36708882 NCBI chr19:10,483,601...10,587,223
Ensembl chr19:10,483,755...10,555,786 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 treatment
severity 		IMP
IEP 		RGD PMID:26256083 PMID:36653797 RGD:11522097, RGD:408395146 NCBI chr 3:97,614,616...97,632,053
Ensembl chr 3:97,614,616...97,624,532 		JBrowse link
G Ocln occludin treatment IEP RGD PMID:31116255 RGD:407424600 NCBI chr 2:33,391,303...33,442,207
Ensembl chr 2:33,391,303...33,430,411 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase IEP RGD PMID:17156888 RGD:1642369 NCBI chr10:45,275,434...45,349,651
Ensembl chr10:45,275,412...45,420,037 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:118,712,412...118,780,714 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit treatment IEP RGD PMID:29399060 PMID:31116255 RGD:407424599, RGD:407424600 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:212,333,035...212,364,817 		JBrowse link
G Ren renin severity IEP RGD PMID:36653797 RGD:408395146 NCBI chr13:47,348,312...47,359,539
Ensembl chr13:47,348,143...47,359,543 		JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:liver (rat) RGD PMID:25561792 RGD:11075083 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:decreased expression:liver RGD PMID:18996124 RGD:2312349 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19951287 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:11477087 RGD:1625694 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP RGD PMID:18296740 RGD:7207884 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346 		JBrowse link
G Tead1 TEA domain transcription factor 1 ameliorates ISO RGD PMID:33710653 RGD:401976495 NCBI chr 1:176,227,175...176,445,122
Ensembl chr 1:176,227,175...176,438,198 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IEP RGD PMID:29399060 RGD:407424599 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Tjp1 tight junction protein 1 treatment IEP RGD PMID:23277536 RGD:407424596 NCBI chr 1:128,260,330...128,505,018
Ensembl chr 1:128,260,330...128,505,158 		JBrowse link
G Tlr2 toll-like receptor 2 treatment IEP RGD PMID:23277536 RGD:407424596 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194 		JBrowse link
G Tlr4 toll-like receptor 4 severity
treatment 		ISO
IEP 		RGD PMID:29884546 PMID:21463341 PMID:23277536 RGD:14697697, RGD:14700554, RGD:407424596 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007 		JBrowse link
G Tnf tumor necrosis factor susceptibility
treatment 		ISO
IEP 		DNA:SNP:promoter:-238G>A (human) RGD PMID:9214463 PMID:20143470 PMID:29399060 RGD:14995434, RGD:38508901, RGD:407424599 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Ubd ubiquitin D ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr20:1,390,734...1,392,685
Ensembl chr20:1,390,600...1,413,965 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    Chemically-Induced Disorders 1508
      substance-related disorder 846
        Alcohol-Related Disorders 543
          Alcoholic Liver Diseases 160
            metabolic dysfunction and alcohol associated liver disease 50
Path 2
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      nervous system disease 14368
        central nervous system disease 12644
          brain disease 11865
            disease of mental health 8493
              substance-related disorder 846
                Alcohol-Related Disorders 543
                  Alcoholic Liver Diseases 160
                    metabolic dysfunction and alcohol associated liver disease 50
paths to the root