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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:non-alcoholic fatty liver disease
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Accession:DOID:0080208 term browser browse the term
Definition:A fatty liver disease characterized by the storing of excess fat in liver cells which is not caused by heavy alcohol use. (DO)
Synonyms:exact_synonym: Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2;   NAFLD;   NAFLD1;   NAFLD2;   Nonalcoholic Fatty Liver;   Nonalcoholic Fatty Livers;   nonalcoholic fatty liver disease;   nonalcoholic fatty liver disease, susceptibility to, 1
 narrow_synonym: Liver Disease, Alcoholic, Susceptibility To, 1
 related_synonym: nonalcoholic fatty liver disease, susceptibility to
 primary_id: MESH:D065626
 alt_id: OMIM:613282;   OMIM:613387
 xref: NCI:C84444
For additional species annotation, visit the Alliance of Genome Resources.


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non-alcoholic fatty liver disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A IEP mRNA:increased expression:liver (rat) RGD PMID:22112382 RGD:11040992 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IEP mRNA:increased expression:liver (rat) RGD PMID:22112382 RGD:11040992 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20040336 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
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 PMID:29341352, PMID:18926681 RGD:14700775 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP protein:increased expression:liver RGD PMID:22112382 RGD:11040992 NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
JBrowse link
G Abcg5 ATP binding cassette subfamily G member 5 disease_progression IEP mRNA:increased expression:liver (rat) RGD PMID:23117815, PMID:25263431 RGD:15045604, RGD:15045610 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 disease_progression IEP mRNA:decreased expression:liver (rat)
mRNA:increased expression:liver (rat)
RGD PMID:23117815, PMID:25263431 RGD:15045604, RGD:15045610 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain treatment IEP RGD PMID:23076603 RGD:10047124 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain treatment IEP RGD PMID:22569299, PMID:23076603 RGD:10047121, RGD:10047124 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Aco1 aconitase 1 IDA protein:increased activity:liver RGD PMID:23805238 RGD:11541090 NCBI chr 5:56,425,076...56,481,218
Ensembl chr 5:56,425,024...56,481,218
JBrowse link
G Actb actin, beta IDA protein:increased carbonylation:liver RGD PMID:25282656 RGD:11541097 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 IEP mRNA, protein:increased expression, increased activity:liver, plasma (rat) RGD PMID:19652891 RGD:2315953 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Adh4 alcohol dehydrogenase 4 (class II), pi polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 2:243,702,035...243,720,063
Ensembl chr 2:243,700,784...243,740,899
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing susceptibility
treatment
disease_progression
IEP
ISO
protein:decreased expression:serum
DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human)
associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human)
DNA:hypermethylation
CTD Direct Evidence: marker/mechanism
associated with obesity;protein:decreased expression:serum:
associated with Obesity, Morbid;
mRNA, protein:decreased expression:liver
CTD PMID:20415685, PMID:22152320, PMID:22269154, PMID:26042596, PMID:27860427, PMID:21255792, PMID:15239085, PMID:18713296, PMID:19606393 RGD:5685373, RGD:14401719, RGD:11076260, RGD:14401717, RGD:5686355, RGD:5686660, RGD:5686810, RGD:5686841 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor2 adiponectin receptor 2 susceptibility
treatment
severity
ISO
IEP
DNA:missense mutation:cds: (human)
mRNA:increased expression:liver (human)
mRNA:increased expression:liver (rat)
mRNA, protein:decreased expression:serum, liver (mouse)
RGD PMID:25345946, PMID:25536648, PMID:19422483, PMID:26770322, PMID:17006986, PMID:29569260 RGD:24922200, RGD:25824941, RGD:25440492, RGD:25330097, RGD:1599139, RGD:24922201 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R (rs4994) (human) RGD PMID:15318095 RGD:5684892 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29127188 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29416063 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Aldh1a1 aldehyde dehydrogenase 1 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 1:238,222,689...238,264,381
Ensembl chr 1:238,222,521...238,264,330
JBrowse link
G Aldh1b1 aldehyde dehydrogenase 1 family, member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 5:61,382,351...61,387,359
Ensembl chr 5:61,382,351...61,387,358
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member treatment
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds: (rs671) (human)
CTD PMID:29718361, PMID:25392542, PMID:27214654, PMID:31026768 RGD:15042863, RGD:11536476, RGD:15036808 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:20967760 RGD:5509622 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
JBrowse link
G Apoa1 apolipoprotein A1 treatment ISO RGD PMID:26420354 RGD:25671437 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoe apolipoprotein E IDA RGD PMID:21184788 RGD:6904141 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha IDA RGD PMID:25222487 RGD:13703054 NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chr 7:2,504,708...2,511,748
Ensembl chr 7:2,504,695...2,511,749
JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24211274 NCBI chr 8:27,777,024...27,804,368
Ensembl chr 8:27,777,179...27,804,515
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity IEP
ISO
protein:increased expression:plasma RGD PMID:25813056, PMID:24927058 RGD:14995922, RGD:14995928 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 disease_progression
treatment
IEP
IMP
RGD PMID:27639593, PMID:27639593 RGD:14995335, RGD:14995335 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism: :190A>G(human) RGD PMID:26591766 RGD:14995492
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20353583 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd36 CD36 molecule ISO mRNA:increased expression:liver RGD PMID:21216282, PMID:24280415 RGD:6893543, RGD:11041117 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cideb cell death-inducing DFFA-like effector b IEP mRNA:increased expression:liver (rat) RGD PMID:25263431 RGD:15045610 NCBI chr15:34,439,844...34,444,244
Ensembl chr15:34,439,876...34,444,244
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO
IDA
RGD PMID:23703580, PMID:17241878 RGD:8552713, RGD:2308807 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645, PMID:31211621 RGD:14747028 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:28824718 RGD:27095887 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15706422 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO protein:decreased expression:liver (mouse) RGD PMID:29710028 RGD:25671411 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:26428356, PMID:26703967, PMID:28458161, PMID:25317811 RGD:11573192, RGD:14700881, RGD:14700871 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 IEP mRNA:decreased expression:liver (rat) RGD PMID:25263431 RGD:15045610 NCBI chr 8:130,548,418...130,550,388
Ensembl chr 8:130,548,418...130,550,388
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 treatment IEP
ISO
RGD PMID:24166662, PMID:17618857 RGD:10400900, RGD:10401056 NCBI chr 1:164,113,459...164,143,818
Ensembl chr 1:164,113,459...164,143,818
JBrowse link
G Ech1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr 1:87,009,798...87,015,996
Ensembl chr 1:87,009,730...87,016,005
JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr12:12,749,026...12,782,078
Ensembl chr12:12,748,785...12,782,146
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit IEP RGD PMID:24351808 RGD:9588320 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:22841818 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23127599 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fgf21 fibroblast growth factor 21 severity ISO CTD Direct Evidence: therapeutic CTD PMID:26797127 PMID:29289645, PMID:32195457 RGD:25330354 NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 severity ISO RGD PMID:32195457 RGD:25330354 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Folr2 folate receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:30794826 NCBI chr 1:166,915,045...166,933,377
Ensembl chr 1:166,915,045...166,919,302
JBrowse link
G Foxo1 forkhead box O1 treatment IMP associated with Diabetes Mellitus, Experimental RGD PMID:30186875 RGD:14401598 NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 treatment ISO associated with type 2 diabetes mellitus RGD PMID:30100243, PMID:27840945 RGD:14695535, RGD:14695545 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:20211032 RGD:10449177 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31086990 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Gpt glutamic--pyruvic transaminase severity ISO protein:increased activity:plasma RGD PMID:24768200, PMID:22922605 RGD:14975160, RGD:14975251 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO protein:increased activity:plasma RGD PMID:22922605 RGD:14975251 NCBI chr19:22,599,003...22,633,529
Ensembl chr19:22,590,881...22,632,071
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:24597775 RGD:11352823 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP RGD PMID:24622831 RGD:10401873 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gsta1 glutathione S-transferase alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23643483 NCBI chr 9:27,366,404...27,381,004
Ensembl chr 9:27,368,272...27,452,902
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23643483 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23643483 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23643483 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IEP protein:decreased expression:liver RGD PMID:24782632 RGD:14694831 NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP associated with iron overload;protein:increased expression:serum (human)
mRNA:increased expression:liver (human)
RGD PMID:29871592, PMID:28051796 RGD:15042878, RGD:15042880 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation:cds:p.C282Y (human) RGD PMID:9453491 RGD:8694420 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase disease_progression IEP mRNA:decreased expression:liver
mRNA:altered expression:liver (rat)
mRNA:decreased expression:liver (rat)
RGD PMID:19913842, PMID:25263431, PMID:23117815 RGD:5508690, RGD:15045610, RGD:15045604 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hp haptoglobin IEP
ISO
protein:increased expression:serum
protein:decreased expression:serum
RGD PMID:21806828, PMID:21806828 RGD:9491781, RGD:9491781 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Ide insulin degrading enzyme IEP RGD PMID:26576191 RGD:13792804 NCBI chr 1:255,914,465...256,014,168
Ensembl chr 1:255,914,447...256,013,495
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility IEP associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) RGD PMID:24275070 RGD:12904726 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor susceptibility IEP associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) RGD PMID:24275070 RGD:12904726 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Il10 interleukin 10 severity ISO associated with morbid obesity RGD PMID:25894568 RGD:14975151 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:18802068 RGD:4145478 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il18 interleukin 18 treatment
severity
IEP
ISO
protein:increased expression:plasma RGD PMID:24006666, PMID:28660148, PMID:20422882 RGD:8655964, RGD:14696674, RGD:14696664 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta no_association ISO DNA:SNPs:CDS:rs1143634 (human)
DNA:SNPs:CDS:rs16944 (human)
RGD PMID:27730688, PMID:27730688 RGD:14975293, RGD:14975293 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO associated with morbid obesity, protein:increased expression:serum (human) RGD PMID:22027586 RGD:14401582 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il3 interleukin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO mRNA,protein:increased expression:liver,plasma
DNA:SNPs:promoter:rs10499563, rs1800795 (human)
RGD PMID:18510618, PMID:27730688 RGD:7829808, RGD:14975293 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Insr insulin receptor susceptibility
treatment
IMP
ISO
IEP
DNA:deletion:cds:codon 306 in exon 4 (mouse)
DNA:deletion:cds: (codon 306, exon 4) (mouse)
RGD PMID:28468951, PMID:28468951, PMID:29325294 RGD:14700929, RGD:14700929, RGD:14700932 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Irs1 insulin receptor substrate 1 IEP RGD PMID:20846698 RGD:6483014 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Irs2 insulin receptor substrate 2 IEP RGD PMID:20846698 RGD:6483014 NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
JBrowse link
G Jak2 Janus kinase 2 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:28100771, PMID:18782535 RGD:6483030 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Klb klotho beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr14:44,529,523...44,614,093 JBrowse link
G Krt18 keratin 18 disease_progression ISO
IEP
protein:increased expression:serum (human)
associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat)
protein:increased degradation:serum (rat)
RGD PMID:30839434, PMID:29989845, PMID:30149902, PMID:30089409 RGD:18337481, RGD:26884460, RGD:18337497, RGD:18337482 NCBI chr 7:143,629,455...143,633,131
Ensembl chr 7:143,629,455...143,633,131
JBrowse link
G Lama1 laminin subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 9:115,916,907...116,042,123
Ensembl chr 9:115,916,907...116,042,123
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20938947 PMID:23127599 PMID:23285030 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Lep leptin ISO
IEP
associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma
associated with type 2 diabetes mellitus;protein:increased expression:serum (human)
associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:24211274, PMID:18713300, PMID:30052309, PMID:20476641 RGD:2311137, RGD:25330349, RGD:25330346 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor susceptibility ISO
ISS
DNA:intron:c.2673+1118C>T (rs6700896) (human)
DNA:SNP:cds:p.Q223R(human)
OMIM:613282 | OMIM:613387
MouseDO PMID:22215535, PMID:27257426 RGD:14696694, RGD:21079462 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lif LIF, interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr14:84,482,652...84,500,574
Ensembl chr14:84,482,674...84,500,642
JBrowse link
G Lpl lipoprotein lipase treatment IDA
IEP
RGD PMID:30214514, PMID:27978932 RGD:13793398, RGD:13794377 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment IEP associated with Diabetes Mellitus, Type 2; RGD PMID:24404139 RGD:13506784 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase disease_progression ISO RGD PMID:24845607 RGD:14694829 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mfn2 mitofusin 2 treatment IEP RGD PMID:26401075 RGD:13204743 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mir155 microRNA 155 ISO miRNA:decreased expression:blood, liver RGD PMID:27856635, PMID:27832630 RGD:21079446, RGD:25671479 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir200b microRNA 200b severity ISO induced by nutritional deficiency. RGD PMID:22561871, PMID:20548288 RGD:14928332, RGD:14974031 NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238
JBrowse link
G Mir20a microRNA 20a IEP associated with type 2 diabetes mellitus RGD PMID:30030064 RGD:25823148 NCBI chr15:100,180,334...100,180,418
Ensembl chr15:100,180,334...100,180,418
JBrowse link
G Mir22 microRNA 22 severity
treatment
ISO RGD PMID:32195457, PMID:32195457 RGD:25330354, RGD:25330354 NCBI chr10:62,299,592...62,299,686
Ensembl chr10:62,299,592...62,299,686
JBrowse link
G Mir34a microRNA 34a ISO miRNA:increased expression:plasma RGD PMID:27077736 RGD:11533145 NCBI chr 5:167,092,491...167,092,592
Ensembl chr 5:167,092,491...167,092,592
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
susceptibility
ISO DNA:SNP: :1298A > C (human)
DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
RGD PMID:24488901, PMID:17563923 RGD:14696706, RGD:14696748 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO RGD PMID:15094225 RGD:1581245 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:25294219, PMID:23592516 RGD:10412712 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISS OMIM:613282 | OMIM:613387 MouseDO NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA, protein:increased expression:liver (mouse) RGD PMID:21948338 RGD:5509578 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:29289645, PMID:28932253 RGD:13434914 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 IEP mRNA:decreased expression:liver (rat) RGD PMID:25263431 RGD:15045610 NCBI chr 3:80,004,130...80,014,197
Ensembl chr 3:80,004,130...80,012,750
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment
disease_progression
susceptibility
ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver (rat)
mRNA:decreased expression:liver (rat)
DNA:deletion:cds:exon 9 (mouse)
CTD PMID:29142166 PMID:32062620, PMID:29743187, PMID:30257410, PMID:25263431, PMID:23117815, PMID:23700488 RGD:14696797, RGD:15090799, RGD:15045610, RGD:15045604, RGD:14701033 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29515023 NCBI chr13:53,750,470...53,870,288
Ensembl chr13:53,750,473...53,870,428
JBrowse link
G Pdk4 pyruvate dehydrogenase kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr 4:30,546,772...30,556,774
Ensembl chr 4:30,546,664...30,556,814
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29416063 NCBI chr10:46,339,821...46,404,640
Ensembl chr10:46,339,821...46,404,642
JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISS OMIM:613282 | OMIM:613387 MouseDO NCBI chr  X:123,205,869...123,213,880
Ensembl chr  X:123,205,869...123,213,882
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase treatment IEP RGD PMID:29031784 RGD:13831310 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO protein:increased expression:serum RGD PMID:22112193 RGD:6482771 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NAFLD1
ClinVar Annotator: match by term: Susceptibility to Nonalcoholic Fatty Liver Disease
DNA:SNPs: :rs738407, rs738409, and rs2896019 (human)
associated with obesity;DNA:SNP: :rs738409 (p.I148M) (human)
ClinVar Annotator: match by term: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
CTD
ClinVar
PMID:18820647 PMID:21381068 PMID:22992668 PMID:24033266 PMID:24531328 PMID:24917523 PMID:25290313 PMID:26200108 PMID:27180240 PMID:27288299 PMID:28073161 PMID:28090653 PMID:28492532 PMID:28744905 PMID:29158695, PMID:24831885, PMID:24477042, PMID:26740948 RGD:14981596, RGD:14981593, RGD:13463463 NCBI chr 7:125,034,760...125,056,165
Ensembl chr 7:125,034,764...125,055,976
JBrowse link
G Pon2 paraoxonase 2 treatment IEP RGD PMID:22536512 RGD:8661257 NCBI chr 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603006, PMID:31211621 RGD:14747028 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16574099 PMID:29289645 NCBI chr20:7,818,289...7,883,482
Ensembl chr20:7,818,289...7,885,333
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha susceptibility IDA
ISO
associated with Obesity; DNA:missense mutation:cds:p.G482S rs8192678 (human) RGD PMID:21373642, PMID:23269818 RGD:6484527, RGD:7241847 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Prf1 perforin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24211274 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
JBrowse link
G Prkca protein kinase C, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr10:96,186,509...96,585,168
Ensembl chr10:96,191,133...96,584,947
JBrowse link
G Prkcd protein kinase C, delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
JBrowse link
G Prkce protein kinase C, epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr 6:9,483,400...9,973,396
Ensembl chr 6:9,790,422...9,973,396
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:26023714 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 treatment ISO RGD PMID:26723251 RGD:11086779 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rag2 recombination activating 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24211274 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
JBrowse link
G Rarres2 retinoic acid receptor responder 2 disease_progression ISO
IEP
mRNA:decreased expression:liver
mRNA, protein:decreased expression:liver,serum
RGD PMID:23507574, PMID:23507574, PMID:23507574 RGD:15036822, RGD:15036822, RGD:15036822 NCBI chr 4:78,205,809...78,208,956
Ensembl chr 4:78,205,812...78,208,767
JBrowse link
G Rdx radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr 8:56,570,728...56,612,851
Ensembl chr 8:56,585,396...56,610,612
JBrowse link
G Retn resistin IEP protein:increased expression:serum RGD PMID:20560816 RGD:7207249 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
JBrowse link
G Samm50 SAMM50 sorting and assembly machinery component ISO DNA:SNPs: : RGD PMID:26740948 RGD:13463463 NCBI chr 7:125,058,966...125,082,506
Ensembl chr 7:125,058,897...125,082,505
JBrowse link
G Scarb1 scavenger receptor class B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23127599 NCBI chr12:36,694,952...36,761,445
Ensembl chr12:36,694,960...36,761,455
JBrowse link
G Serpinb2 serpin family B member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr13:27,449,907...27,463,015
Ensembl chr13:27,449,934...27,463,010
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:blood: RGD PMID:25091195 RGD:13208545 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISS OMIM:613282 | OMIM:613387 MouseDO NCBI chr 8:50,230,335...50,246,979
Ensembl chr 8:50,230,339...50,246,656
JBrowse link
G Sirt1 sirtuin 1 treatment
severity
IEP
ISO
CTD Direct Evidence: therapeutic
associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue
protein:decreased expression:liver
CTD PMID:26026874, PMID:17498258, PMID:20033348, PMID:22902550 RGD:9585663, RGD:9586021, RGD:9585746 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Sirt2 sirtuin 2 treatment IDA associated with Obesity RGD PMID:22327056 RGD:9586049 NCBI chr 1:86,948,866...86,971,954
Ensembl chr 1:86,948,918...86,971,952
JBrowse link
G Sirt3 sirtuin 3 treatment IDA associated with Obesity RGD PMID:22327056 RGD:9586049 NCBI chr 1:213,613,502...213,636,061
Ensembl chr 1:213,613,513...213,635,546
JBrowse link
G Sirt4 sirtuin 4 IEP RGD PMID:20651844 RGD:9586052 NCBI chr12:46,862,358...46,876,593
Ensembl chr12:46,868,416...46,876,592
JBrowse link
G Sirt6 sirtuin 6 treatment IEP RGD PMID:21373642 RGD:6484527 NCBI chr 7:10,937,622...10,943,048
Ensembl chr 7:10,937,599...10,943,063
JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:15094225, PMID:24597775 RGD:1581245, RGD:11352823 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603006 PMID:24633463 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
G Stat3 signal transducer and activator of transcription 3 IDA RGD PMID:18782535 RGD:6483030 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stc2 stanniocalcin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097666 NCBI chr10:16,542,909...16,552,675
Ensembl chr10:16,542,882...16,553,295
JBrowse link
G Tff3 trefoil factor 3 treatment ISO mRNA,protein:decreased expression:liver: RGD PMID:31211621, PMID:31211621 RGD:14747028, RGD:14747028 NCBI chr20:9,850,800...9,855,481
Ensembl chr20:9,850,803...9,855,481
JBrowse link
G Tfrc transferrin receptor IEP protein:increased expression:liver RGD PMID:23805238 RGD:11541090 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr4 toll-like receptor 4 treatment
severity
IEP
ISO
mRNA:increased expression:liver: RGD PMID:23301938, PMID:25413054, PMID:22253482 RGD:7777122, RGD:14700658, RGD:14700656 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA:increased expression:liver (human, mouse) RGD PMID:28687713 RGD:18337289 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tm6sf2 transmembrane 6 superfamily member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531328 NCBI chr16:21,092,483...21,099,695
Ensembl chr16:21,092,308...21,099,878
JBrowse link
G Tnf tumor necrosis factor treatment
severity
IEP
ISO
protein:increased expression:serum, liver (rat)
associated with morbid obesity
RGD PMID:25219124, PMID:19034968, PMID:25894568 RGD:10450574, RGD:14995482, RGD:14975151 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20353583 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Trib3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr 3:147,814,056...147,819,650
Ensembl chr 3:147,813,473...147,819,571
JBrowse link
G Ucp2 uncoupling protein 2 treatment IDA
ISO
IEP
mRNA:increased expression:liver
mRNA, protein:increased expression:liver
RGD PMID:21359922, PMID:18308829, PMID:18543254 RGD:7175312, RGD:7204435, RGD:7204434 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
JBrowse link
G Vdr vitamin D receptor treatment ISO mRNA,protein:increased expression:hepatocyte: RGD PMID:27245430, PMID:27245430, PMID:27245430 RGD:14401753, RGD:14401753, RGD:14401753 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vldlr very low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097666 NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
JBrowse link
non-alcoholic fatty liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:serum: RGD PMID:27639593 RGD:14995335 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO protein:increased expression:serum: RGD PMID:23730648 RGD:14747013 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO protein:increased expression:liver,serum RGD PMID:18710424 RGD:14975250 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO protein:increased expression:liver,serum RGD PMID:18710424 RGD:14975250 NCBI chr19:22,599,003...22,633,529
Ensembl chr19:22,590,881...22,632,071
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 severity
susceptibility
ISO RGD PMID:29861476, PMID:31064654 RGD:14985251, RGD:14985252 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 severity ISO cholic acid fed FXR-/- mouse RGD PMID:12971955 RGD:15045573 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
non-alcoholic 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 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Acer3 alkaline ceramidase 3 treatment
disease_progression
ISO mRNA:increased expression:liver RGD PMID:31949129, PMID:31949129, PMID:31949129 RGD:35673324, RGD:35673324, RGD:35673324 NCBI chr 1:163,160,987...163,263,621
Ensembl chr 1:163,160,979...163,263,606
JBrowse link
G Adipor2 adiponectin receptor 2 susceptibility
treatment
IEP
ISO
mRNA:decreased expression:liver (rat)
associated with obesity
associated with obesity;protein:decreased expression:liver (mouse)
RGD PMID:20606728, PMID:30131158, PMID:20965162, PMID:18666257, PMID:19763702 RGD:21076282, RGD:25824942, RGD:25440494, RGD:25330095, RGD:25330094 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
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 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO
IEP
RNA:increased expression:liver:
mRNA:increased expression:liver (rat)
RGD PMID:24429361, PMID:20606728, PMID:30369082 RGD:14975280, RGD:21076282, RGD:14995462 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:serum: RGD PMID:27639593 RGD:14995335 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cldn1 claudin 1 IEP mRNA:increased expression:distal colon (rat) RGD PMID:31189495 RGD:26884351 NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
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 chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
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 5:19,358,734...19,368,431
Ensembl chr 5:19,358,734...19,368,431
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 9:81,555,914...81,560,931
Ensembl chr 9:81,559,605...81,560,594
JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082A>G (rs1800896) (human) RGD PMID:28852433 RGD:14975143 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174���G/C (human) RGD PMID:28852433 RGD:14975143 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Irf5 interferon regulatory factor 5 ISO mRNA:increased expression:liver RGD PMID:27942586 RGD:40924562 NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
JBrowse link
G Krt18 keratin 18 severity ISO
IEP
protein:increased degradation:plasma (human)
protein:altered degradation:liver, serum (rat)
protein:increased expression:serum (human)
associated with morbid obesity;protein:increased degradation: plasma(human)
protein:increased degradation:serum (human)
RGD PMID:19585618, PMID:24071521, PMID:21993925, PMID:18995215, PMID:19333204, PMID:24630506 RGD:18337489, RGD:27226810, RGD:18337499, RGD:18337495, RGD:18337493, RGD:18337490 NCBI chr 7:143,629,455...143,633,131
Ensembl chr 7:143,629,455...143,633,131
JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:SNPs: :rs1137100,rs1137101(human) RGD PMID:23278404 RGD:14696696 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Mc4r melanocortin 4 receptor ISS MouseDO NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
JBrowse link
G Mir21 microRNA 21 ameliorates ISO RNA:increased expression:liver RGD PMID:26338827, PMID:26338827 RGD:41404659, RGD:41404659 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mir221 microRNA 221 treatment ISO RGD PMID:30316865 RGD:18337274 NCBI chr  X:3,684,480...3,684,588
Ensembl chr  X:3,684,480...3,684,588
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:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment IEP RGD PMID:25385666 RGD:21201312 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nox4 NADPH oxidase 4 susceptibility IEP mRNA:increased expression:liver (rat) RGD PMID:20606728 RGD:21076282 NCBI chr 1:150,796,359...150,976,186
Ensembl chr 1:150,797,084...150,976,194
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 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
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 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
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 chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Smad4 SMAD family member 4 ISO protein:increased expression:liver: RGD PMID:29696816, PMID:29696816 RGD:18937002, RGD:18937002 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Sod1 superoxide dismutase 1 susceptibility IEP mRNA:decreased expression:liver (rat) RGD PMID:20606728 RGD:21076282 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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 RGD:15092090 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:29482933 RGD:15090806 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor susceptibility IEP mRNA:increased expression:liver (rat) RGD PMID:20606728 RGD:21076282 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Txnip thioredoxin interacting protein ISO RGD PMID:29482933 RGD:15090806 NCBI chr 2:198,683,168...198,686,971
Ensembl chr 2:198,683,159...198,686,974
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      endocrine system disease 5011
        liver disease 2418
          fatty liver disease 290
            non-alcoholic fatty liver disease 185
              non-alcoholic fatty liver 7
              non-alcoholic steatohepatitis 35
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2235
            lipid metabolism disorder 905
              lipid storage disease 468
                fatty liver disease 290
                  non-alcoholic fatty liver disease 185
                    non-alcoholic fatty liver 7
                    non-alcoholic steatohepatitis 35
paths to the root