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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:Tobacco Use Disorder
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Accession:DOID:9001310 term browser browse the term
Definition:Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included.
Synonyms:exact_synonym: Nicotine Use Disorder;   Nicotine Use Disorders;   Tobacco Dependence;   Tobacco Dependences;   Tobacco Use Disorders
 primary_id: MESH:D014029;   RDO:0006711
For additional species annotation, visit the Alliance of Genome Resources.

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Tobacco Use Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25482063 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464 		JBrowse link
G Apbb1 amyloid beta precursor protein binding family B member 1 susceptibility ISO DNA:SNPs,haplotype:multiple: RGD PMID:18777128 RGD:10054043 NCBI chr 1:170,387,625...170,411,263
Ensembl chr 1:170,387,609...170,404,056 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17186223 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210 		JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18414406 PMID:29666375 NCBI chr 8:59,594,007...59,607,122
Ensembl chr 8:59,592,403...59,607,275 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Tobacco use disorder		 ClinVar PMID:19628475 PMID:21107856 PMID:21683344 PMID:22873564 PMID:24385388 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208 		JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18414406 PMID:18519132 PMID:28472521 NCBI chr 8:59,561,817...59,590,172
Ensembl chr 8:59,561,721...59,590,172 		JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851948 NCBI chr16:68,860,018...68,866,718
Ensembl chr16:68,860,018...68,866,718 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit IDA
ISO		 CTD Direct Evidence: marker/mechanism CTD PMID:24289814, PMID:12438507 RGD:704388 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851948 NCBI chr16:68,876,442...68,913,628
Ensembl chr16:68,875,709...68,913,628 		JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:29666375 NCBI chr 8:59,610,489...59,629,073
Ensembl chr 8:59,609,693...59,629,133 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29216386 NCBI chr13:88,311,639...88,436,561
Ensembl chr13:88,317,145...88,436,789 		JBrowse link
G Dhrs7 dehydrogenase/reductase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29216386 NCBI chr 6:95,522,577...95,541,393
Ensembl chr 6:95,522,577...95,541,393 		JBrowse link
G Drd2 dopamine receptor D2 ISO DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple
CTD Direct Evidence: marker/mechanism		 CTD PMID:18579413, PMID:17108814 RGD:1600904 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642 		JBrowse link
G Egfr epidermal growth factor receptor IEP mRNA, protein:increased expression:lung (rat) RGD PMID:21475988 RGD:5131452 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796 		JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO associated with Graves Ophthalmopathy RGD PMID:10792346 RGD:8549806 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28864214 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Lcp1 lymphocyte cytosolic protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr15:57,170,566...57,277,811
Ensembl chr15:57,221,292...57,277,811 		JBrowse link
G Lysmd3 LysM domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr 2:9,526,213...9,532,370
Ensembl chr 2:9,526,209...9,534,362 		JBrowse link
G Mir218-2 microRNA 218-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28864214 NCBI chr10:20,428,661...20,428,770
Ensembl chr10:20,428,661...20,428,770 		JBrowse link
G Pitrm1 pitrilysin metallopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29216386 NCBI chr17:68,477,423...68,509,113
Ensembl chr17:68,477,446...68,509,120 		JBrowse link
G Plekhg1 pleckstrin homology and RhoGEF domain containing G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr 1:40,286,908...40,521,395
Ensembl chr 1:40,389,638...40,520,447 		JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO DNA:snps:introns: (rs2072115), (rs2074533) (human) RGD PMID:15274052 RGD:9835361 NCBI chr 7:139,232,263...139,254,668
Ensembl chr 7:139,232,251...139,254,551 		JBrowse link
G Rptor regulatory associated protein of MTOR, complex 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr10:108,750,620...109,058,691
Ensembl chr10:108,750,620...109,058,691 		JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA:decreased expression:olfactory epithelial cell (human) RGD PMID:20935192 RGD:5129228 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214 		JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO RGD PMID:15635702 RGD:1580461 NCBI chr 1:102,669,868...102,699,442
Ensembl chr 1:102,669,868...102,699,442 		JBrowse link
nicotine dependence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20418890 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210 		JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NICOTINE DEPENDENCE, SUSCEPTIBILITY TO		 CTD
ClinVar		 PMID:18385676 PMID:18385738 PMID:18385739 PMID:19132693 PMID:19429911 PMID:19628476 PMID:20372150 PMID:20418890 PMID:20886544 PMID:22992668 PMID:23249876 PMID:24535486 NCBI chr 8:59,594,007...59,607,122
Ensembl chr 8:59,592,403...59,607,275 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit susceptibility ISO ClinVar Annotator: match by term: Nicotine addiction, protection against
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:15154117 PMID:25741868 PMID:26467025 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208 		JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NICOTINE DEPENDENCE, SUSCEPTIBILITY TO		 CTD
ClinVar		 PMID:18385738 PMID:18385739 PMID:18618000 PMID:19443489 PMID:20372150 PMID:20643934 PMID:22648373 PMID:22992668 PMID:30453884 NCBI chr 8:59,561,817...59,590,172
Ensembl chr 8:59,561,721...59,590,172 		JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20418888 NCBI chr16:68,860,018...68,866,718
Ensembl chr16:68,860,018...68,866,718 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20418888 NCBI chr16:68,876,442...68,913,628
Ensembl chr16:68,875,709...68,913,628 		JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20418888 NCBI chr 1:83,163,103...83,236,615
Ensembl chr 1:83,163,079...83,236,615 		JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20418890 NCBI chr 1:83,969,456...83,977,665
Ensembl chr 1:83,969,457...83,977,236 		JBrowse link
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737 		JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20514075 NCBI chr10:40,208,236...40,211,981
Ensembl chr10:40,208,223...40,211,975 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 susceptibility ISO ClinVar Annotator: match by term: Tobacco addiction, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:25741868 PMID:28263315 PMID:28492532 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Chemically-Induced Disorders 1200
      substance-related disorder 614
        Tobacco Use Disorder 30
          nicotine dependence 11
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              substance-related disorder 614
                Tobacco Use Disorder 30
                  nicotine dependence 11
paths to the root