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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:Alcohol-Related Disorders
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Accession:DOID:9004354 term browser browse the term
Definition:Disorders related to or resulting from abuse or mis-use of alcohol.
Synonyms:exact_synonym: Alcohol-Related Disorder
 primary_id: MESH:D019973;   RDO:0004794
For additional species annotation, visit the Alliance of Genome Resources.



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Alcohol-Related Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cartpt CART prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:22823101 NCBI chr 2:31,255,098...31,257,452
Ensembl chr 2:31,255,098...31,290,713
JBrowse link
G Casp8 caspase 8 treatment IEP RGD PMID:30118883 RGD:13782287 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
Acute Alcohol Sensitivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: Susceptibility to hangover
ClinVar Annotator: match by term: Acute alcohol sensitivity
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... NCBI chr12:34,949,549...34,982,527 JBrowse link
alcohol dependence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh1 alcohol dehydrogenase 1 (class I) ISO
ISS
ClinVar Annotator: match by term: Alcohol dependence
OMIM:103780
ClinVar
MouseDO
PMID:3397059 PMID:3758060 PMID:10090900 PMID:15863807 PMID:17718394 More... NCBI chr 2:226,797,303...226,808,892
Ensembl chr 2:226,797,303...226,808,892
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: Alcohol dependence ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... NCBI chr12:34,949,549...34,982,527 JBrowse link
G Avpr1b arginine vasopressin receptor 1B IEP RGD PMID:21309953 RGD:14700679 NCBI chr13:43,046,960...43,057,110
Ensembl chr13:43,046,267...43,057,792
JBrowse link
G Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 ISS OMIM:103780 MouseDO NCBI chr14:37,096,995...37,230,030
Ensembl chr14:37,097,279...37,228,944
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 IEP protein:increased activity:plasma,liver,intestine: RGD PMID:6113606 RGD:14701046 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:29582627 RGD:14700988 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISS OMIM:103780 MouseDO NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
JBrowse link
G Lep leptin IDA
IEP
DNA:hypermethylation:promoter
protein:decreased expression:serum
RGD PMID:29912265 PMID:29912265 RGD:21201248, RGD:21201248 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISS OMIM:103780 MouseDO NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
JBrowse link
Alcohol Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 IEP RGD PMID:14506614 RGD:1581765 NCBI chr 1:181,026,606...181,044,859 JBrowse link
alcohol use disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh1 alcohol dehydrogenase 1 (class I) ISO ClinVar Annotator: match by OMIM:103780
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:3397059 PMID:3758060 PMID:10090900 PMID:15863807 PMID:16404797 More... NCBI chr 2:226,797,303...226,808,892
Ensembl chr 2:226,797,303...226,808,892
JBrowse link
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide IMP RGD PMID:8462548 RGD:5129091 NCBI chr 2:226,975,184...226,987,591 JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: Alcohol dependence
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... RGD:734551 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Bdnf brain-derived neurotrophic factor IEP protein:decreased expression:plasma RGD PMID:32135570 RGD:35673317 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ISO mRNA:increased expression:prefrontal cortex RGD PMID:28714806 RGD:18337277 NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600
JBrowse link
G Cckar cholecystokinin A receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9922984 NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747
JBrowse link
G Cdk20 cyclin-dependent kinase 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr17:701,122...707,869
Ensembl chr17:701,124...707,826
JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18414406 NCBI chr 8:55,401,981...55,415,012
Ensembl chr 8:55,401,702...55,415,165
JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18414406 NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10395222 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Crh corticotropin releasing hormone IEP mRNA:increased expression:central amygdaloid nucleus (rat) RGD PMID:20060104 RGD:5508173 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO RGD PMID:11988580 RGD:734822 NCBI chr10:89,040,203...89,083,481
Ensembl chr10:89,040,203...89,083,481
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma, extracellular exosome
CTD
RGD
PMID:20843640 PMID:23819932 PMID:29404485 PMID:29404485 RGD:14700915, RGD:14700911, RGD:14700911 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Dbh dopamine beta-hydroxylase no_association ISO DNA:polymorphism:5' utr:g.-1021C>T (human)
DNA:polymorphism:cds:g.444G>A (human)
RGD PMID:16133787 PMID:16252068 RGD:1625572, RGD:1625571 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
JBrowse link
G Drd2 dopamine receptor D2 IEA GAD PMID:15118671 RGD:1331525 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit IEP RGD PMID:23095216 RGD:10045658 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:8590623 NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370
JBrowse link
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22253714 NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994
JBrowse link
G Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 susceptibility ISO DNA:SNPs:multiple:
CTD Direct Evidence: marker/mechanism
CTD
OMIM
RGD
PMID:22253714 PMID:15024690 RGD:6480257 NCBI chr14:37,096,995...37,230,030
Ensembl chr14:37,097,279...37,228,944
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22253714 NCBI chr10:26,376,805...26,463,680
Ensembl chr10:26,374,694...26,464,346
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20585342 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12747453 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO CTD Direct Evidence: therapeutic CTD PMID:23977009 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22253714 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO RGD PMID:14573320 RGD:1642372 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO RGD PMID:14573320 PMID:16911840 RGD:1642372, RGD:1642200 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Hdac2 histone deacetylase 2 IMP RGD PMID:23485013 RGD:9590265 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO OMIM NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
JBrowse link
G Htr3b 5-hydroxytryptamine receptor 3B susceptibility ISO DNA:SNP:cds:rs1176744(human) RGD PMID:20838391 RGD:6480660 NCBI chr 8:49,279,291...49,308,444
Ensembl chr 8:49,279,173...49,308,444
JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 ISO DNA:SNP:intron: (rs7916403) (human) RGD PMID:21184583 RGD:150429835 NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626
JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO DNA:SNP:promoter:rs2836016 (human) RGD PMID:21307845 RGD:6483053 NCBI chr11:34,061,705...34,309,128
Ensembl chr11:34,061,708...34,308,758
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:8590623 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972
JBrowse link
G Maoa monoamine oxidase A susceptibility ISO RGD PMID:15900229 RGD:1600720 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593
JBrowse link
G Mcm5 minichromosome maintenance complex component 5 IEP RGD PMID:23095216 RGD:10045658 NCBI chr19:13,483,030...13,504,389
Ensembl chr19:13,483,066...13,504,389
JBrowse link
G Mir191 microRNA 191 onset IEP RGD PMID:32135570 RGD:35673317 NCBI chr 8:109,264,098...109,264,188 JBrowse link
G Mir195 microRNA 195 onset IEP RGD PMID:32135570 RGD:35673317 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
JBrowse link
G Mir206 microRNA 206 onset IEP RGD PMID:32135570 RGD:35673317 NCBI chr 9:23,094,249...23,094,332
Ensembl chr 9:23,094,249...23,094,332
JBrowse link
G Mir30a microRNA 30a onset IEP RGD PMID:32135570 RGD:35673317 NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:24966898 RGD:13207311 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:24966898 RGD:13207311 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Npy neuropeptide Y IAGP
ISO
DNA:deletion:intron:g.4666_4674del (rat)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.L7P (human)
CTD
RGD
PMID:17572454 PMID:15749341 PMID:12215082 RGD:1357412, RGD:10430830 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18828811 NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024
JBrowse link
G Oprl1 opioid related nociceptin receptor 1 IMP RGD PMID:11814626 RGD:9835016 NCBI chr 3:168,831,934...168,839,920
Ensembl chr 3:168,834,003...168,839,920
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12815747 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
JBrowse link
G Pde4b phosphodiesterase 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr 5:116,799,827...117,367,707
Ensembl chr 5:116,799,971...117,367,696
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17559549 PMID:18923396 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
JBrowse link
G Penk proenkephalin IEP mRNA:increased expression:frontal lobe: RGD PMID:22703995 RGD:10003152 NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129
JBrowse link
G Rpl18a ribosomal protein L18A IEP mRNA:decreased expression:parietal cortex RGD PMID:11244494 RGD:11038708 NCBI chr16:18,542,572...18,544,578
Ensembl chr16:18,542,566...18,545,546
JBrowse link
G Shbg sex hormone binding globulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8590623 NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27219321 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
G Slc6a4 solute carrier family 6 member 4 susceptibility ISO protein:decreased activity: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15520362 PMID:17000009 PMID:20838391 RGD:6480660 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18055133 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
G Spi1 Spi-1 proto-oncogene treatment IEP
IDA
protein:decreased expression:alveolar macrophage RGD PMID:16272341 PMID:21447000 RGD:9586723, RGD:9586725 NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 severity ISO mRNA,protein:decreased expression:liver: RGD PMID:17697868 RGD:10043133 NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310
JBrowse link
G Tacr1 tachykinin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204064 NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
JBrowse link
G Tacr3 tachykinin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422838 NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
JBrowse link
G Tas2r118 taste receptor, type 2, member 118 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Beta-glycopyranoside tasting
CTD
ClinVar
PMID:9603606 PMID:10923994 PMID:16051168 PMID:16385453 PMID:17250611 More... NCBI chr 4:52,449,208...52,450,107
Ensembl chr 4:52,449,208...52,450,107
JBrowse link
G Tas2r138 taste receptor, type 2, member 138 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17250611 NCBI chr 4:69,428,344...69,429,339
Ensembl chr 4:69,428,344...69,429,339
JBrowse link
G Tbx19 T-box transcription factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11000917 PMID:21792595 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO RGD PMID:15654285 RGD:1580464 NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344
JBrowse link
Alcohol Withdrawal Delirium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnr1 cannabinoid receptor 1 ISO RGD PMID:11841893 RGD:1626329 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:16318954 RGD:5688289 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27219321 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
Alcohol Withdrawal Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a1 solute carrier family 29 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21283641 NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27219321 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
Alcohol-Induced Disorders, Nervous System term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aif1 allograft inflammatory factor 1 IEP protein:increased expression:cortex, hippocampus (rat) RGD PMID:18585922 RGD:2313030 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
JBrowse link
G Cirbp cold inducible RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223948 NCBI chr 7:9,533,857...9,538,899 JBrowse link
alcohol-induced mental disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26711020 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Foxo4 forkhead box O4 IEP protein:increased phosphorylation:small intestine: RGD PMID:23292333 RGD:10402360 NCBI chr  X:66,385,241...66,392,115
Ensembl chr  X:66,385,558...66,392,115
JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP RGD PMID:24972622 RGD:10401897 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
Alcohol-Induced Sudden Cardiac Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppa2 inorganic pyrophosphatase 2 ISO ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 More... NCBI chr 2:221,800,791...221,878,079
Ensembl chr 2:221,800,842...221,878,081
JBrowse link
alcoholic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:22497828 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:decreased expression:skeletal muscle, membrane RGD PMID:17607508 RGD:1642138 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IEP protein:increased expression:heart myocardium RGD PMID:18783396 RGD:2301868 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Rxra retinoid X receptor alpha IEP RGD PMID:19791468 RGD:2317465 NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
JBrowse link
G Slc25a4 solute carrier family 25 member 4 IEP mRNA, protein:decreased expression:myocardium RGD PMID:21169901 RGD:9681464 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
JBrowse link
Alcoholic Fatty Liver 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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP
ISO
RGD PMID:26115886 PMID:18755807 PMID:27220557 PMID:22013387 RGD:25330099, RGD:25824943, RGD:25824939, RGD:25440493 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member severity
treatment
susceptibility
IDA
ISO
human transgene in mouse model
protein:altered processing:liver (mouse)
DNA:missense mutation:cds:p.E504K (human)
RGD PMID:17058263 PMID:25457208 PMID:29156373 PMID:29063269 RGD:1599041, RGD:15036811, RGD:15036805, RGD:14696776 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO RGD PMID:27859576 RGD:14401742 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:24280415 RGD:11041117 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum: RGD PMID:21806828 RGD:9491781 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Ctsb cathepsin B IEP protein:increased activity:liver, cytosol (rat) RGD PMID:17850215 RGD:2315516 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26428356 PMID:25583360 PMID:24064383 RGD:14700884, RGD:14700870 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO RGD PMID:22905112 RGD:9588654 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:19253830 RGD:11041633 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Ldlr low density lipoprotein receptor IEP protein:decreased expression: liver (rat) RGD PMID:20028367 RGD:21410185 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:26867493 RGD:25671474 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase IEP RGD PMID:17156888 RGD:1642369 NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:liver (rat) RGD PMID:25561792 RGD:11075083 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:decreased expression:liver RGD PMID:18996124 RGD:2312349 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19951287 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:11477087 RGD:1625694 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP RGD PMID:18296740 RGD:7207884 NCBI chr 9:49,472,660...49,588,540 JBrowse link
G Tlr4 toll-like receptor 4 severity ISO RGD PMID:29884546 PMID:21463341 RGD:14697697, RGD:14700554 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnf tumor necrosis factor susceptibility
treatment
ISO
IEP
DNA:SNP:promoter:-238G>A (human) RGD PMID:9214463 PMID:20143470 RGD:14995434, RGD:38508901 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
alcoholic hepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
JBrowse link
G Agt angiotensinogen ISO mRNA:decreased expression:liver RGD PMID:17258719 RGD:1601135 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Alb albumin severity ISO protein:increased expression, modification:urine RGD PMID:29369844 RGD:14694842 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO RNA:increased expression:liver: RGD PMID:24429361 PMID:21826694 PMID:10446112 RGD:14975280, RGD:14995491, RGD:14995467 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 severity ISO RGD PMID:10446112 RGD:14995467 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12586603 PMID:31258651 RGD:14995304 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:1670041 RGD:5688335 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:27939985 RGD:15036816 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
JBrowse link
G Fas Fas cell surface death receptor treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fgf19 fibroblast growth factor 19 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 1:200,056,656...200,059,944
Ensembl chr 1:200,056,644...200,060,287
JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO protein:increased expression:hepatocyte RGD PMID:1347281 RGD:14402038 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il13 interleukin 13 IEP mRNA:increased expression:liver RGD PMID:16698589 RGD:1581860 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il18 interleukin 18 severity ISO associated alcoholic liver cirrhosis; protein:increased expression:plasma: RGD PMID:15566508 RGD:14696666 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G Nfkbia NFKB inhibitor alpha treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Slc10a1 solute carrier family 10 member 1 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 treatment IEP RGD PMID:27939985 RGD:15036816 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26220752 NCBI chr  X:42,225,131...42,233,403
Ensembl chr  X:42,225,372...42,233,402
JBrowse link
G Sult1e1 sulfotransferase family 1E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26220752 NCBI chr14:20,422,324...20,439,562
Ensembl chr14:20,422,324...20,439,275
JBrowse link
G Tnf tumor necrosis factor treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12586603 PMID:27939985 RGD:15036816 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Alcoholic Intoxication term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd2 dopamine receptor D2 treatment IDA RGD PMID:28300818 RGD:13506954 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Ifng interferon gamma treatment ISO RGD PMID:9514301 RGD:10755766 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Nps neuropeptide S IDA RGD PMID:19860802 RGD:9831199 NCBI chr 1:190,077,040...190,080,821
Ensembl chr 1:190,077,040...190,080,821
JBrowse link
G Npsr1 neuropeptide S receptor 1 IEP mRNA:increased expression:brain RGD PMID:19860802 RGD:9831199 NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
JBrowse link
G Per2 period circadian regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15608650 NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
JBrowse link
alcoholic liver cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member susceptibility ISO DNA:missense mutation:cds:p.E504K (human)
DNA:missense mutation:cds: (rs671) (human)
associated with alcohol dependence;DNA:missense mutation:exon 12:p.E487K (human)
RGD PMID:29779728 PMID:23550892 PMID:11051375 RGD:14696777, RGD:15042864, RGD:15042858 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:16205370 RGD:6483345 NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Crp C-reactive protein severity ISO RGD PMID:22441510 RGD:6482305 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20843640 PMID:29404441 RGD:14700873 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 disease_progression
ameliorates
IEP
IMP
RGD PMID:21199726 PMID:23409069 RGD:150429766, RGD:150517731 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
JBrowse link
G Fabp2 fatty acid binding protein 2 onset ISO DNA:polymorphism:CDS:amino acid A54T, homozygosity of the T allele associated with later onset RGD PMID:16289894 PMID:16289894 RGD:1578455, RGD:1578455 NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
JBrowse link
G Il18bp interleukin 18 binding protein ISO protein:increased expression:plasma: RGD PMID:15566508 RGD:14696666 NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Jak2 Janus kinase 2 ISO mRNA, protein:increased expression, increased tyrosine phosphorylation:liver RGD PMID:24619965 RGD:10403061 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Lep leptin IDA DNA:hypomethylation:promoter (human) RGD PMID:29912265 RGD:21201248 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Mboat7 membrane bound O-acyltransferase domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26482880 NCBI chr 1:65,525,206...65,539,538 JBrowse link
G Mir122 microRNA 122 ISO miRNA:decreased expression:liver RGD PMID:28987423 RGD:14401600 NCBI chr18:58,758,703...58,758,787 JBrowse link
G Mir141 microRNA 141 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
JBrowse link
G Mir17 microRNA 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
JBrowse link
G Mir193b microRNA 193b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824
JBrowse link
G Mir423 microRNA 423 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
JBrowse link
G Mir484 microRNA 484 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr10:887,684...887,760 JBrowse link
G Mir532 microRNA 532 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393
JBrowse link
G Mir93 microRNA 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr12:17,043,135...17,043,221
Ensembl chr12:17,043,135...17,043,221
JBrowse link
G Mmp13 matrix metallopeptidase 13 IEP RGD PMID:16286264 RGD:10043176 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19731237 PMID:23274713 NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:25987440 RGD:14696749 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO RGD PMID:24497272 RGD:10448995 NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
JBrowse link
G Plau plasminogen activator, urokinase IDA RGD PMID:19615318 RGD:7241800 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19946271 PMID:26482880 NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:serum (human) RGD PMID:27748324 RGD:27226704 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: : 47T>C(human)
CTD
RGD
PMID:19731237 PMID:26873981 RGD:11060603 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:increased expression:blood, neutrophil (human) RGD PMID:18433921 RGD:5130706 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tm6sf2 transmembrane 6 superfamily member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26482880 NCBI chr16:19,344,218...19,351,431
Ensembl chr16:19,344,222...19,351,431
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23274713 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Alcoholic Liver Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme severity
treatment
ISO protein:increased activity:serum (human) RGD PMID:3028446 PMID:28691216 RGD:19165343, RGD:40400719 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP RGD PMID:24797033 RGD:25824940 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member susceptibility
severity
ISO DNA:missense mutation:cds, exon 12:p.E487K (human)
DNA:polymorphism:exon 12: (human)
DNA:deletion:cds: (mouse)
RGD PMID:1916152 PMID:12198368 PMID:26173414 PMID:3189338 RGD:14696699, RGD:14981580, RGD:11076022, RGD:14696790 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Angpt2 angiopoietin 2 severity ISO RGD PMID:24959006 RGD:15014784 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G C6 complement C6 resistance IAGP RGD PMID:15351314 RGD:1600673 NCBI chr 2:53,846,027...53,921,279
Ensembl chr 2:53,851,985...53,921,275
JBrowse link
G Cav1 caveolin 1 treatment IEP RGD PMID:23764359 RGD:8662277 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cd27 CD27 molecule IEP RGD PMID:16698589 RGD:1581860 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
JBrowse link
G Cd59 CD59 molecule IEP protein:decreased expression:liver RGD PMID:12483994 RGD:1600486 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP::-318 T>C(rs5742909)(human) RGD PMID:15208156 RGD:14398728 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP mRNA:increased expression:liver RGD PMID:10498645 RGD:5135271 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 IEP mRNA:increased expression:liver RGD PMID:10498645 RGD:5135271 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 IEP mRNA:increased expression:liver RGD PMID:10498645 RGD:5135271 NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 treatment ISO
IEP
RGD PMID:29401608 PMID:30192013 PMID:25592162 PMID:29902864 RGD:14700887, RGD:14700906, RGD:14700894, RGD:14700893 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:30502657 RGD:38599215 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha IDA RGD PMID:21059295 RGD:10395351 NCBI chr 6:97,672,829...97,697,499
Ensembl chr 6:97,672,766...97,706,225
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:lymphocyte: RGD PMID:26429926 RGD:14700711 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:15932176 PMID:26937962 RGD:14700973, RGD:11060494 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:15932176 PMID:26937962 RGD:14700973, RGD:11060494 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hfe homeostatic iron regulator IEP mRNA:increased expression:liver, Kupffer cell (rat) RGD PMID:18599584 RGD:8694397 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP mRNA:increased expression:liver (rat) RGD PMID:17085342 RGD:9068897 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Igf2 insulin-like growth factor 2 IEP mRNA:increased expression:liver RGD PMID:18505416 RGD:5510002 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:serum (rat) RGD PMID:23009062 RGD:7204488 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO mRNA:decreased expression:liver (human) RGD PMID:22459801 RGD:6892954 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
JBrowse link
G Lpl lipoprotein lipase treatment IEP RGD PMID:28442378 RGD:13794376 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Mif macrophage migration inhibitory factor IEP protein:increased expression:liver RGD PMID:11798463 RGD:1642007 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Mir122 microRNA 122 ISO miRNA:decreased expression:hepatocyte RGD PMID:28987423 RGD:14401600 NCBI chr18:58,758,703...58,758,787 JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:28492308 RGD:25314298 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir223 microRNA 223 severity ISO RGD PMID:27679493 RGD:21408575 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:liver RGD PMID:17374579 RGD:1642042 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression
severity
ISO mRNA:increased expression:liver RGD PMID:26576483 PMID:26576483 RGD:14695016, RGD:14695016 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO RGD PMID:12533840 RGD:1549458 NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment
severity
ISO DNA:SNP:promoter:rs35652124(human) RGD PMID:31906014 PMID:31340446 RGD:21201307, RGD:21201311 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Otc ornithine transcarbamylase IEP protein:increased expression:serum (rat) RGD PMID:19101528 RGD:4144059 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO protein:increased expression:serum RGD PMID:22098627 RGD:6484116 NCBI chr 1:80,053,441...80,068,384
Ensembl chr 1:80,050,324...80,068,595
JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19946271 NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha severity ISO DNA:knockout::increased severity in knockouts (mouse) RGD PMID:15382117 RGD:5683636 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27765815 NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
JBrowse link
G Psmd14 proteasome 26S subunit, non-ATPase 14 IEP protein:decreased expression:liver, cytosolic proteasome complex (rat) RGD PMID:19609968 RGD:9480236 NCBI chr 3:46,254,338...46,347,076
Ensembl chr 3:46,254,330...46,347,076
JBrowse link
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762690 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
G Slc39a13 solute carrier family 39 member 13 IEP protein:increased expression:liver, endoplasmic reticulum (rat) RGD PMID:25767260 RGD:11553884 NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO human gene in a rat model RGD PMID:11266387 RGD:9587792 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:32236798 RGD:27095880 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Tbxas1 thromboxane A synthase 1 IEP mRNA,protein:increased expression:liver, Kupffer cell: RGD PMID:9262373 RGD:11059607 NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA,protein,activity:increased expression, increased activity:kupffer cell: RGD PMID:26725521 RGD:11574970 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tlr3 toll-like receptor 3 treatment ISO RGD PMID:23023014 PMID:30870678 RGD:21079426, RGD:21079436 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tnf tumor necrosis factor treatment IMP
IEP
mRNA:increased expression:liver (rat) RGD PMID:9397994 PMID:7556590 PMID:15670576 RGD:14398736, RGD:14995472, RGD:14995456 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Uchl5 ubiquitin C-terminal hydrolase L5 IEP protein:decreased expression:liver, cytosolic proteasome complex RGD PMID:19609968 RGD:9480236 NCBI chr13:55,520,722...55,556,503
Ensembl chr13:55,520,729...55,556,502
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma RGD PMID:24959006 RGD:15014784 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
alcoholic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1 insulin-like growth factor 1 IEP RGD PMID:23016131 RGD:10402569 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP RGD PMID:23016131 RGD:10402569 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Igf2 insulin-like growth factor 2 IEP RGD PMID:23016131 RGD:10402569 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
alcoholic pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO DNA:missense mutations: :p.L1156F, Q1352H (human) RGD PMID:26089335 RGD:11566036 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:22280800 NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
JBrowse link
G Ugt1a7c UDP glucuronosyltransferase 1 family, polypeptide A7C ISO DNA:polymorphisms: :p.N129K, p.R131K, p.W208R (human) RGD PMID:12806614 RGD:2317503 NCBI chr 9:88,739,577...88,808,465 JBrowse link
Binge Drinking term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO
IEP
protein:increased expression, increased nitration RGD PMID:25236742 PMID:29404485 PMID:25236742 RGD:14700891, RGD:14700911, RGD:14700891 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO protein:increased expression:nucleus accumbens: RGD PMID:23423140 RGD:9588287 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Efhd2 EF-hand domain family, member D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28397836 NCBI chr 5:154,160,945...154,176,980
Ensembl chr 5:154,160,946...154,176,980
JBrowse link
G Mir125a microRNA 125a IEP RNA:decreased expression:neuron RGD PMID:27085842 RGD:26884454 NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
JBrowse link
G Mir223 microRNA 223 ISO RNA:increased expression:serum
RNA:increased expression:serum, neutrophil,liver
RGD PMID:27679493 PMID:27679493 RGD:21408575, RGD:21408575 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Oprl1 opioid related nociceptin receptor 1 ISO RGD PMID:29197086 RGD:14348965 NCBI chr 3:168,831,934...168,839,920
Ensembl chr 3:168,834,003...168,839,920
JBrowse link
G Sirt1 sirtuin 1 IEP RGD PMID:24416161 RGD:9495933 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Slc23a2 solute carrier family 23 member 2 IEP RGD PMID:27085842 RGD:26884454 NCBI chr 3:119,302,651...119,395,289
Ensembl chr 3:119,302,666...119,460,343
JBrowse link
fetal alcohol spectrum disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:15007105 RGD:12904641 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Bpifa1 BPI fold containing family A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15513904 NCBI chr 3:142,627,810...142,633,553
Ensembl chr 3:142,627,810...142,633,552
JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:26074427 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IMP
IEP
RGD PMID:22037411 PMID:23763370 RGD:13210751, RGD:13432044 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:decreased activity:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25511929 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Pten phosphatase and tensin homolog IEP Protein:increased expression, increased activity:cerebellum (rat) RGD PMID:12700235 RGD:12801493 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rps6ka1 ribosomal protein S6 kinase A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:146,079,021...146,118,272
JBrowse link
fetal alcohol syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoa ras homolog family member A IEP protein:increased activation:neuron, cerebellum RGD PMID:17109064 RGD:2298867 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
Wernicke encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron RGD PMID:18481165 RGD:2300278 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Tkt transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3762968 NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Chemically-Induced Disorders 1218
      substance-related disorder 616
        Alcohol-Related Disorders 289
          Acute Alcohol Sensitivity 1
          Alcohol Amnestic Disorder + 0
          Alcohol Myopathy 1
          Alcohol Withdrawal Delirium 3
          Alcohol-Induced Disorders, Nervous System + 61
          Alcohol-Induced Sudden Cardiac Failure 1
          Alcoholic Intoxication 5
          Alcoholic Liver Diseases + 115
          Binge Drinking 8
          Wernicke encephalopathy 2
          alcohol dependence 9
          alcohol use disorder 102
          alcoholic cardiomyopathy 6
          alcoholic pancreatitis 3
          alcoholic psychosis 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              substance-related disorder 616
                Alcohol-Related Disorders 289
                  Acute Alcohol Sensitivity 1
                  Alcohol Amnestic Disorder + 0
                  Alcohol Myopathy 1
                  Alcohol Withdrawal Delirium 3
                  Alcohol-Induced Disorders, Nervous System + 61
                  Alcohol-Induced Sudden Cardiac Failure 1
                  Alcoholic Intoxication 5
                  Alcoholic Liver Diseases + 115
                  Binge Drinking 8
                  Wernicke encephalopathy 2
                  alcohol dependence 9
                  alcohol use disorder 102
                  alcoholic cardiomyopathy 6
                  alcoholic pancreatitis 3
                  alcoholic psychosis 0
paths to the root