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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:attention deficit hyperactivity disorder
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Accession:DOID:1094 term browser browse the term
Definition:A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. (DO)
Synonyms:exact_synonym: ADHD;   attention deficit disorder;   attention deficit disorder with hyperactivity;   attention deficit disorders;   attention deficit hyperactivity disorders;   hyperactivity of childhood;   hyperkinetic disorder;   hyperkinetic syndrome;   minimal brain dysfunction
 narrow_synonym: hyperactivity disorder;   tryptophan 5-monooxygenase deficiency
 related_synonym: ADHD1;   ADHD2;   ADHD3;   ADHD4;   ADHD5;   ADHD6;   DOPAMINE RECEPTOR D4 POLYMORPHISM;   DRD4-RELATED CONDITION;   DRD5-RELATED CONDITION;   attention deficit-hyperactivity disorder, susceptibility to, 1;   attention deficit-hyperactivity disorder, susceptibility to, 2;   attention deficit-hyperactivity disorder, susceptibility to, 3;   attention deficit-hyperactivity disorder, susceptibility to, 4;   attention deficit-hyperactivity disorder, susceptibility to, 5;   attention deficit-hyperactivity disorder, susceptibility to, 6
 xref: EFO:0003888;   MESH:D001289;   MIM:143465;   MIM:608903;   MIM:608904;   MIM:608905;   MIM:608906;   MIM:612311;   MIM:612312;   MONDO:0007743;   NCI:C35092;   NCI:C97160
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
attention deficit hyperactivity disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp1 acid phosphatase 1 ISO associated with Tourette Syndrome;DNA:SNP: :p.Q105R, 216A>G (human) RGD PMID:12231445 RGD:1358577 NCBI chr 6:53,233,937...53,249,576
Ensembl chr 6:53,233,948...53,251,959 		JBrowse link
G Adgrl3 adhesion G protein-coupled receptor L3 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 		CTD
MouseDO		 PMID:22405201 NCBI chr14:26,690,891...27,458,132
Ensembl chr14:26,722,194...27,280,418 		JBrowse link
G Adra2a adrenoceptor alpha 2A ISO DNA:polymorphism: :-1291C>G (human) RGD PMID:16178932 PMID:19150055 RGD:1559309, RGD:6480484 NCBI chr 1:263,066,780...263,069,580
Ensembl chr 1:263,065,278...263,069,871 		JBrowse link
G Ar androgen receptor ISO associated with Tourette Syndrome;DNA:repeats, haplotypes RGD PMID:10380986 RGD:6907129 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		JBrowse link
G As3mt arsenite methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25461954 NCBI chr 1:255,536,879...255,569,245
Ensembl chr 1:255,537,109...255,569,249 		JBrowse link
G Atxn7 ataxin 7 ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 MouseDO NCBI chr15:13,547,859...13,693,311
Ensembl chr15:13,547,862...13,693,526 		JBrowse link
G Baiap2 BAR/IMD domain containing adaptor protein 2 ISO DNA:snps:introns:multiple (human)
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder 		ClinVar
RGD		 PMID:19733838 PMID:24377651 PMID:27217152 PMID:24377651 RGD:11576297 NCBI chr10:105,721,371...105,788,549
Ensembl chr10:105,721,417...105,788,549 		JBrowse link
G Bdnf brain-derived neurotrophic factor treatment IEP RGD PMID:25061595 RGD:10059388 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Brinp1 BMP/retinoic acid inducible neural specific 1 ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr 5:87,363,621...87,565,580
Ensembl chr 5:87,364,050...87,508,256 		JBrowse link
G Caly calcyon neuron-specific vesicular protein ISO
IEP 		CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes: :rs4838721, rs2275723 (human) 		CTD
RGD		 PMID:30753204 PMID:16172615 PMID:19690230 RGD:15092091, RGD:15092092 NCBI chr 1:204,292,317...204,303,506
Ensembl chr 1:204,292,318...204,303,196 		JBrowse link
G Cdh2 cadherin 2 ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 MouseDO NCBI chr18:8,051,097...8,265,288
Ensembl chr18:8,051,097...8,265,288 		JBrowse link
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr10:65,981,692...65,985,831
Ensembl chr10:65,978,911...65,989,272 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21748252 NCBI chr 3:188,506,802...188,535,558
Ensembl chr 3:188,501,209...188,535,105 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO RGD PMID:14970827 RGD:151708703 NCBI chr 1:126,123,425...126,249,181
Ensembl chr 1:126,123,425...126,446,858 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 		CTD
MouseDO		 PMID:21748252 NCBI chr 2:177,479,091...177,487,306
Ensembl chr 2:177,479,091...177,491,326 		JBrowse link
G Cic capicua transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28288114 NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:89,981,743...90,008,354 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22034972 NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:53,204,260...53,239,252 		JBrowse link
G Comt catechol-O-methyltransferase treatment
no_association
susceptibility 		ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.V158M(human)
DNA:polymorphism:cds:rs4680(p.V158M)(human) 		CTD
RGD		 PMID:10490706 PMID:27121430 PMID:24035255 PMID:19946713 RGD:13451120, RGD:13450946, RGD:13450945 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:96,072,489...96,092,533 		JBrowse link
G Cry1 cryptochrome circadian regulator 1 ISO
ISS 		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 		ClinVar
MouseDO		 PMID:28388406 PMID:32538895 NCBI chr 7:20,417,526...20,481,791
Ensembl chr 7:20,417,107...20,481,822 		JBrowse link
G Csmd2 CUB and Sushi multiple domains 2 ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:28332277 NCBI chr 5:145,626,823...146,196,815
Ensembl chr 5:145,626,845...146,196,812 		JBrowse link
G Csnk1d casein kinase 1, delta ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 MouseDO NCBI chr10:106,713,497...106,754,953
Ensembl chr10:106,694,279...106,754,953 		JBrowse link
G Dagla diacylglycerol lipase, alpha ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:28332277 NCBI chr 1:216,315,515...216,372,219
Ensembl chr 1:216,315,516...216,372,111 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO DNA:SNP:intron RGD PMID:12707943 RGD:1358584 NCBI chr 3:30,886,313...30,903,313
Ensembl chr 3:30,886,328...30,903,316 		JBrowse link
G Dcdc2 doublecortin domain containing 2 ISO DNA:snp:intron:c.923-1870T>C (human) (rs793862) RGD PMID:27501527 RGD:12910980 NCBI chr17:40,274,009...40,459,757
Ensembl chr17:40,274,009...40,458,790 		JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:205,831,428...205,865,106
Ensembl chr 1:205,831,336...205,865,106 		JBrowse link
G Dock3 dedicator of cyto-kinesis 3 ISO RGD PMID:14569117 RGD:1358592 NCBI chr 8:116,431,158...116,782,218
Ensembl chr 8:116,431,159...116,782,195 		JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17671965 NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:58,605,403...58,669,339 		JBrowse link
G Drd4 dopamine receptor D4 treatment
no_association
severity
susceptibility 		ISO
IEP 		DNA:snp:promoter:g.-616C>G (human)
ClinVar Annotator: match by term: DRD4-related condition | ClinVar Annotator: match by term: HYPERACTIVITY OF CHILDHOOD
CTD Direct Evidence: marker/mechanism
DNA:duplication, snps, haplotype:promoter:g.-1480_-1240dup, g.-616C>G, g.-521C>T (human)
DNA:duplication:exon:g.2689_2737dup (human)
DNA:snp:promoter:g.-521G>A (human)
DNA:duplication:promoter:g.-1480_-1240dup (human)
mRNA:decreased expression:blood
mRNA, protein:decreased expression:frontal association cortex
DNA:repeats: : 		ClinVar
CTD
OMIM
RGD		 PMID:7881421 PMID:10654656 PMID:14699430 PMID:14699433 PMID:17671965 More... RGD:13210521, RGD:13210583, RGD:13210577, RGD:13210521, RGD:13210511, RGD:13210510, RGD:13210507, RGD:7248607, RGD:7248606, RGD:7248596, RGD:5686422, RGD:1358609, RGD:2311591, RGD:1358608 NCBI chr 1:205,825,937...205,829,124
Ensembl chr 1:205,826,049...205,830,458 		JBrowse link
G Drd5 dopamine receptor D5 no_association
susceptibility 		ISO CTD Direct Evidence: marker/mechanism
DNA:repeat 		OMIM
CTD
RGD		 PMID:14699430 PMID:14732906 PMID:15389755 PMID:11032390 PMID:14699430 RGD:5686411, RGD:5686417, RGD:1358609 NCBI chr14:76,700,244...76,703,344
Ensembl chr14:76,700,241...76,703,466 		JBrowse link
G Ferry3 FERRY endosomal RAB5 effector complex subunit 3 ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:25558065 PMID:27311568 NCBI chr 4:161,458,942...161,494,213
Ensembl chr 4:161,458,931...161,493,075 		JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15809997 NCBI chr  X:23,466,791...23,509,773
Ensembl chr  X:23,467,530...23,509,979 		JBrowse link
G Foxp2 forkhead box P2 no_association ISO DNA:SNPs, haplotype: :rs1229761, rs12533005 (human)
DNA:SNPs: :multiple 		RGD PMID:22504457 PMID:22504457 RGD:11535980, RGD:11535980 NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:44,099,959...44,677,696 		JBrowse link
G Git1 GIT ArfGAP 1 ISO
ISS 		DNA:polymorphism:intron
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312
CTD Direct Evidence: marker/mechanism 		MouseDO
CTD
RGD		 PMID:21499268 PMID:21499268 RGD:11344918 NCBI chr10:62,840,165...62,854,508
Ensembl chr10:62,840,394...62,854,508 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IMP
IEP 		mRNA:decreased expression:brain (rat) RGD PMID:18571865 PMID:22777493 RGD:13210768, RGD:13432033 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570 		JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138692 NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:6,878,545...7,273,443 		JBrowse link
G Grm5 glutamate metabotropic receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19546859 PMID:22138692 NCBI chr 1:150,722,711...151,297,585
Ensembl chr 1:150,733,678...151,296,649 		JBrowse link
G Grm7 glutamate metabotropic receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138692 NCBI chr 4:145,286,714...146,169,099
Ensembl chr 4:145,286,924...146,169,201 		JBrowse link
G Grm8 glutamate metabotropic receptor 8 ISO DNA:deletion: :
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:22138692 PMID:22138692 RGD:6484664 NCBI chr 4:56,771,247...57,696,951
Ensembl chr 4:56,770,771...57,687,639 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO DNA:SNP:CDS:mutiple (human) RGD PMID:35642741 RGD:401854249 NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:29,720,553...29,754,533 		JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B ISO RGD PMID:12556913 RGD:1358660 NCBI chr 8:91,395,405...91,414,815
Ensembl chr 8:91,052,432...91,418,583 		JBrowse link
G Lgals3 galectin 3 IEP protein:decreased expression:brain RGD PMID:20557304 RGD:9685226 NCBI chr15:23,099,795...23,111,731
Ensembl chr15:23,086,841...23,111,737 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:10767337 PMID:12384770 PMID:12566531 PMID:12872250 PMID:16763963 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Mir96 microRNA 96 susceptibility ISO DNA:SNP,haplotype: :rs6965643,rs2402959(human) RGD PMID:23906647 RGD:11553930 NCBI chr 4:59,755,841...59,755,946 JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:24633733 RGD:13204849 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association 		ISO DNA:polymorphism: :1298A>C(human)
DNA:SNP: :1298A>C,677C>T(human) 		RGD PMID:21897766 PMID:21819229 RGD:11565107, RGD:11565109 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP mRNA:increased expression:prefrontal cortex RGD PMID:26820676 RGD:408364966 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,522,783...31,643,843 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 treatment IEP RGD PMID:25061595 RGD:10059388 NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,564,570...5,874,628 		JBrowse link
G Per1 period circadian regulator 1 ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr10:54,299,002...54,313,804
Ensembl chr10:54,302,641...54,314,211 		JBrowse link
G Ptchd1 patched domain containing 1 ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr  X:43,496,907...43,548,413
Ensembl chr  X:43,496,907...43,548,544 		JBrowse link
G Ptprd protein tyrosine phosphatase, receptor type, D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19546859 NCBI chr 5:95,093,221...97,415,498
Ensembl chr 5:95,095,858...96,178,903 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:28332277 NCBI chr 8:118,086,243...118,094,274
Ensembl chr 8:118,086,228...118,094,274 		JBrowse link
G Rfx3 regulatory factor X3 ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:25741868 NCBI chr 1:234,863,462...235,122,989
Ensembl chr 1:234,863,462...235,122,536 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO
ISS 		with prenatal smoke exposure;DNA:repeat:3' utr: (human)
CTD Direct Evidence: marker/mechanism
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 		CTD
MouseDO
RGD		 PMID:12699766 PMID:15059031 PMID:19120712 PMID:22034972 PMID:12915833 RGD:1358582 NCBI chr 1:31,537,990...31,578,962
Ensembl chr 1:31,537,990...31,578,962 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 severity ISO DNA:repeat:promoter: RGD PMID:27430630 RGD:36947879 NCBI chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056 		JBrowse link
G Snap25 synaptosome associated protein 25 ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:144,494,595...144,576,448 		JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18413370 NCBI chr  X:46,102,524...46,110,868
Ensembl chr  X:46,102,548...46,111,104 		JBrowse link
G Tacr1 tachykinin receptor 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 		CTD
MouseDO		 PMID:19204064 NCBI chr 4:116,478,617...116,647,492
Ensembl chr 4:116,478,617...116,647,492 		JBrowse link
G Tbc1d9 TBC1 domain family member 9 ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:28332277 NCBI chr19:41,746,732...41,855,924
Ensembl chr19:41,746,732...41,856,092 		JBrowse link
G Thrb thyroid hormone receptor beta ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr15:10,115,954...10,465,231
Ensembl chr15:10,115,954...10,313,680 		JBrowse link
G Thrsp thyroid hormone responsive ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 MouseDO NCBI chr 1:161,134,640...161,138,964
Ensembl chr 1:161,133,453...161,139,827 		JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO DNA:polymorphisms: :-6526A>G, 218A>C (human)
DNA:missense mutations:exons:multiple 		RGD PMID:16389593 PMID:20921119 RGD:1580457, RGD:5686345 NCBI chr 1:106,293,695...106,314,628
Ensembl chr 1:106,085,953...106,312,484 		JBrowse link
G Tph2 tryptophan hydroxylase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tryptophan 5-monooxygenase deficiency 		CTD
ClinVar		 PMID:15167691 PMID:16378243 PMID:17905754 PMID:18181017 PMID:18339632 More... NCBI chr 7:52,571,909...52,676,305
Ensembl chr 7:52,571,911...52,675,639 		JBrowse link
G Ust uronyl-2-sulfotransferase ISO DNA:SNP:CDS:mutiple (human) RGD PMID:35642741 RGD:401854249 NCBI chr 1:4,487,316...4,782,579
Ensembl chr 1:4,489,925...4,782,356 		JBrowse link
G Vegfa vascular endothelial growth factor A IEP RGD PMID:15178644 RGD:1580558 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:28332277 NCBI chr19:39,981,890...39,987,443
Ensembl chr19:39,981,262...39,987,442 		JBrowse link
Attention Deficit-Hyperactivity Disorder 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tph2 tryptophan hydroxylase 2 susceptibility ISO ClinVar Annotator: match by term: Attention deficit-hyperactivity disorder, susceptibility to, 7 OMIM
ClinVar		 PMID:19319927 PMID:25741868 NCBI chr 7:52,571,909...52,676,305
Ensembl chr 7:52,571,911...52,675,639 		JBrowse link
Attention Deficit-Hyperactivity Disorder 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Attention deficit-hyperactivity disorder 8 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34702855 NCBI chr18:8,051,097...8,265,288
Ensembl chr18:8,051,097...8,265,288 		JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ric1 RIC1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Catifa syndrome | ClinVar Annotator: match by term: RIC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr 1:236,698,901...236,798,099
Ensembl chr 1:236,698,852...236,798,099 		JBrowse link
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia OMIM
ClinVar		 PMID:25741868 PMID:27523599 PMID:27677260 PMID:29368331 PMID:30631341 More... NCBI chr 8:84,956,629...84,985,576
Ensembl chr 8:84,953,815...84,986,888 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder OMIM
ClinVar		 PMID:25741868 PMID:35979925 NCBI chr 3:110,606,489...110,685,408
Ensembl chr 3:110,606,489...110,685,562 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Neurodevelopmental Disorders 2634
        Attention Deficit and Disruptive Behavior Disorders 70
          attention deficit hyperactivity disorder 69
            Attention Deficit-Hyperactivity Disorder 7 1
            Attention Deficit-Hyperactivity Disorder 8 1
            CATIFA Syndrome 1
            Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 0
            Hyperkinetic Conduct Disorder 0
            LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 1
            NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            disease of mental health 3944
              developmental disorder of mental health 2218
                specific developmental disorder 1593
                  Attention Deficit and Disruptive Behavior Disorders 70
                    attention deficit hyperactivity disorder 69
                      Attention Deficit-Hyperactivity Disorder 7 1
                      Attention Deficit-Hyperactivity Disorder 8 1
                      CATIFA Syndrome 1
                      Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 0
                      Hyperkinetic Conduct Disorder 0
                      LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 1
                      NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER 1
paths to the root