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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:choreatic disease
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Accession:DOID:12859 term browser browse the term
Definition:A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. (DO)
Synonyms:exact_synonym: BCH;   BHC;   Benign Hereditary Chorea;   Chorea;   Chorea Disorder;   Chorea Syndrome;   Chorea Syndromes;   Choreas;   Choreatic Disorder;   Choreatic Disorders;   Choreatic Syndrome;   Choreatic Syndromes;   Choreic Movement;   Choreic Movements;   Choreiform Movement;   Choreiform Movements;   Chronic Progressive Chorea;   Chronic Progressive Choreas;   Hereditary Chorea;   Hereditary Choreas;   Hereditary Progressive Chorea Without Dementia;   Paroxysmal Dyskinesia;   Paroxysmal Dyskinesias;   Rheumatic Chorea;   Rheumatic Choreas;   Senile Chorea;   Senile Choreas;   St. Vitus Dance;   St. Vitus's Dance;   St. Vitus's Dances;   St. Vituss Dance;   Sydenham chorea;   Sydenham choreas;   Sydenham's chorea;   Sydenhams chorea;   benign hereditary choreas;   chorea disorders
 primary_id: MESH:D002819
 alt_id: OMIA:002084;   OMIM:118700
 xref: EFO:0004152;   ORDO:1429
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
choreatic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 9:107,276,948...107,406,545
Ensembl chr 9:107,276,811...107,406,542 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
G Ebf3 early B cell factor 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr 7:136,795,400...136,924,528
Ensembl chr 7:136,795,402...136,916,174 		JBrowse link
G Glrx3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr 7:137,039,302...137,071,360
Ensembl chr 7:137,039,343...137,070,323 		JBrowse link
G Gnao1 guanine nucleotide binding protein, alpha O ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 PMID:28492532 PMID:28668776 PMID:29389947 PMID:29935962 More... NCBI chr 8:94,537,213...94,696,016
Ensembl chr 8:94,536,594...94,696,016 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO associated with Rheumatic Fever;DNA:polymorphisms (human) RGD PMID:17559688 RGD:5147792 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO associated with Rheumatic Fever;DNA:polymorphism (human) RGD PMID:17559688 RGD:5147792 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO associated with Rheumatic Fever;DNA:polymorphism (human) RGD PMID:17559688 RGD:5147792 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217 		JBrowse link
G Mbip MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr12:56,375,091...56,392,681
Ensembl chr12:56,375,088...56,392,679 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995 		JBrowse link
G Mipol1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr12:57,277,211...57,546,809
Ensembl chr12:57,277,213...57,543,985 		JBrowse link
G Nkx2-1 NK2 homeobox 1 susceptibility ISO DNA:transition: ; 745C>T
ClinVar Annotator: match by term: Benign hereditary chorea | ClinVar Annotator: match by term: HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 More... RGD:1600157 NCBI chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693 		JBrowse link
G Nkx2-9 NK2 homeobox 9 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr12:56,658,174...56,660,354
Ensembl chr12:56,658,174...56,660,069 		JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:132,483,609...132,589,802
Ensembl chr  X:132,483,609...132,589,736 		JBrowse link
G Pde2a phosphodiesterase 2A, cGMP-stimulated ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 PMID:32467598 NCBI chr 7:101,070,905...101,162,026
Ensembl chr 7:101,060,093...101,162,026
Ensembl chr 7:101,060,093...101,162,026 		JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO Dyskinesia, paroxysmal, PIGN-related OMIA PMID:15474685 PMID:27891564 PMID:28703446 PMID:33769611 PMID:36086931 NCBI chr 1:105,446,147...105,591,466
Ensembl chr 1:105,446,147...105,591,402 		JBrowse link
G Slc25a21 solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr12:56,759,419...57,244,257
Ensembl chr12:56,759,419...57,244,257 		JBrowse link
G Vps13a vacuolar protein sorting 13A ISO choreoacanthocytosis, OMIM:200150 RGD PMID:11381253 RGD:1599747 NCBI chr19:16,592,730...16,758,433
Ensembl chr19:16,592,730...16,758,297 		JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 3:34,111,429...34,135,503
Ensembl chr 3:34,110,169...34,135,470 		JBrowse link
G Opa3 optic atrophy 3 ISO
IAGP		 ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome
CTD Direct Evidence: marker/mechanism
OMIM:258501		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 7:18,962,314...18,980,742
Ensembl chr 7:18,962,259...18,990,468 		JBrowse link
Benign Familial Chorea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-1 NK2 homeobox 1 ISO DNA:splice-site mutation:intron:c.464-9C>A (human)
DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)
DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human)		 RGD PMID:22825795 PMID:11971878 PMID:18788921 RGD:12914772, RGD:12914773, RGD:11073166 NCBI chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693 		JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700123O20Rik RIKEN cDNA 1700123O20 gene ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,923,628...54,928,201
Ensembl chr14:54,923,673...54,928,198 		JBrowse link
G 4931414P19Rik RIKEN cDNA 4931414P19 gene ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,821,119...54,843,450
Ensembl chr14:54,821,120...54,843,450 		JBrowse link
G Abhd4 abhydrolase domain containing 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,491,586...54,506,626
Ensembl chr14:54,491,645...54,508,094 		JBrowse link
G Acin1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,879,618...54,924,422
Ensembl chr14:54,879,618...54,924,388 		JBrowse link
G Adcy4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:56,006,513...56,021,552
Ensembl chr14:56,006,514...56,021,552 		JBrowse link
G Ajuba ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,804,926...54,815,118
Ensembl chr14:54,804,929...54,815,015 		JBrowse link
G Akap6 A kinase anchor protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:52,745,371...53,202,351
Ensembl chr12:52,746,166...53,202,382 		JBrowse link
G Ang angiogenin, ribonuclease, RNase A family, 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466 		JBrowse link
G Ap1g2 adaptor protein complex AP-1, gamma 2 subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,336,292...55,344,050
Ensembl chr14:55,336,032...55,344,050 		JBrowse link
G Ap4s1 adaptor-related protein complex AP-4, sigma 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:51,708,545...51,785,716
Ensembl chr12:51,737,816...51,791,569 		JBrowse link
G Arf6 ADP-ribosylation factor 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,418,924...69,422,754
Ensembl chr12:69,418,924...69,420,557 		JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:52,550,555...52,618,761
Ensembl chr12:52,550,755...52,618,758 		JBrowse link
G Arhgef40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,222,158...52,243,704
Ensembl chr14:52,222,176...52,243,708 		JBrowse link
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:54,939,774...55,061,155
Ensembl chr12:54,940,336...55,061,133 		JBrowse link
G Bcl2l2 BCL2-like 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,120,900...55,125,691
Ensembl chr14:55,120,834...55,125,691 		JBrowse link
G Brms1l breast cancer metastasis-suppressor 1-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:55,883,109...55,916,521
Ensembl chr12:55,883,109...55,916,521 		JBrowse link
G Carmil3 capping protein regulator and myosin 1 linker 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,728,108...55,745,729
Ensembl chr14:55,728,108...55,745,729 		JBrowse link
G Cbln3 cerebellin 3 precursor protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:56,116,377...56,121,713
Ensembl chr14:56,116,370...56,121,849 		JBrowse link
G Cdh24 cadherin-like 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,868,688...54,878,853
Ensembl chr14:54,868,688...54,878,821 		JBrowse link
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,947,823...54,949,604
Ensembl chr14:54,947,817...54,949,631 		JBrowse link
G Cfl2 cofilin 2, muscle ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:54,905,602...54,910,065
Ensembl chr12:54,905,594...54,909,662 		JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,435,608...52,495,499
Ensembl chr14:52,435,608...52,495,237 		JBrowse link
G Cideb cell death-inducing DNA fragmentation factor, alpha subunit-like effector B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,991,509...55,995,881
Ensembl chr14:55,991,507...55,995,915 		JBrowse link
G Clec14a C-type lectin domain family 14, member a ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:58,311,506...58,316,044
Ensembl chr12:58,311,506...58,316,076 		JBrowse link
G Cma1 chymase 1, mast cell ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132 		JBrowse link
G Cmtm5 CKLF-like MARVEL transmembrane domain containing 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,173,927...55,176,734
Ensembl chr14:55,173,718...55,176,731 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554 		JBrowse link
G Cpne6 copine VI ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,747,902...55,754,892
Ensembl chr14:55,747,902...55,754,888 		JBrowse link
G Ctsg cathepsin G ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:56,337,342...56,340,031
Ensembl chr14:56,337,338...56,340,031 		JBrowse link
G Dad1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,472,942...54,491,386
Ensembl chr14:54,472,936...54,491,561 		JBrowse link
G Dcaf11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,796,557...55,807,522
Ensembl chr14:55,797,463...55,807,522 		JBrowse link
G Dhrs1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,976,477...55,983,147
Ensembl chr14:55,976,477...55,983,147 		JBrowse link
G Dhrs2 dehydrogenase/reductase member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,459,464...55,478,897
Ensembl chr14:55,459,464...55,478,892 		JBrowse link
G Dhrs4 dehydrogenase/reductase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,715,880...55,727,797
Ensembl chr14:55,716,215...55,727,797 		JBrowse link
G Dnaaf2 dynein, axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,235,861...69,245,203
Ensembl chr12:69,235,861...69,245,203 		JBrowse link
G Dtd2 D-tyrosyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:52,035,089...52,053,290
Ensembl chr12:52,035,095...52,053,284 		JBrowse link
G Eapp E2F-associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:54,717,125...54,743,245
Ensembl chr12:54,717,125...54,742,682 		JBrowse link
G Ear1 eosinophil-associated, ribonuclease A family, member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:44,056,222...44,057,096
Ensembl chr14:44,056,222...44,112,974 		JBrowse link
G Ear6 eosinophil-associated, ribonuclease A family, member 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,091,225...52,092,100
Ensembl chr14:52,091,156...52,092,100 		JBrowse link
G Eddm3b epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:51,351,886...51,355,248
Ensembl chr14:51,351,883...51,355,264 		JBrowse link
G Efs embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,154,087...55,164,222
Ensembl chr14:55,153,992...55,163,583 		JBrowse link
G Egln3 egl-9 family hypoxia-inducible factor 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:54,225,767...54,250,660
Ensembl chr12:54,225,767...54,250,646 		JBrowse link
G Emc9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,818,976...55,822,832
Ensembl chr14:55,818,973...55,822,759 		JBrowse link
G Fam177a family with sequence similarity 177, member A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:55,171,313...55,188,889
Ensembl chr12:55,171,254...55,188,889 		JBrowse link
G Fancm Fanconi anemia, complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		JBrowse link
G Fbxo33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:59,247,441...59,268,747
Ensembl chr12:59,247,441...59,266,511 		JBrowse link
G Fitm1 fat storage-inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,813,131...55,814,409
Ensembl chr14:55,813,074...55,814,411 		JBrowse link
G Fkbp3 FK506 binding protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:65,109,206...65,120,712
Ensembl chr12:65,109,198...65,120,781 		JBrowse link
G Foxa1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:57,585,750...57,594,815
Ensembl chr12:57,587,414...57,593,702 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Fscb fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:64,518,107...64,521,672
Ensembl chr12:64,518,104...64,521,464 		JBrowse link
G G2e3 G2/M-phase specific E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:51,395,013...51,423,769
Ensembl chr12:51,394,844...51,423,769 		JBrowse link
G Gemin2 gem nuclear organelle associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:59,060,177...59,075,256
Ensembl chr12:59,060,179...59,075,256 		JBrowse link
G Gm527 predicted gene 527 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:64,964,685...64,971,365
Ensembl chr12:64,964,680...64,971,366 		JBrowse link
G Gmpr2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,909,692...55,935,602
Ensembl chr14:55,909,398...55,916,657 		JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:52,069,786...52,074,887
Ensembl chr12:52,069,786...52,074,846 		JBrowse link
G Gzmb granzyme B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:56,496,293...56,499,791
Ensembl chr14:56,496,295...56,499,717 		JBrowse link
G Gzme granzyme E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:56,355,076...56,358,082
Ensembl chr14:56,355,083...56,358,082 		JBrowse link
G Haus4 HAUS augmin-like complex, subunit 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,779,242...54,792,446
Ensembl chr14:54,779,242...54,792,073 		JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:51,922,654...52,018,154
Ensembl chr12:51,922,654...52,018,104 		JBrowse link
G Hectd1 HECT domain E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:51,790,504...51,876,540
Ensembl chr12:51,790,505...51,876,319 		JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,310,834...52,341,462
Ensembl chr14:52,310,834...52,341,485 		JBrowse link
G Homez homeodomain leucine zipper-encoding gene ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,090,193...55,109,285
Ensembl chr14:55,090,193...55,108,418 		JBrowse link
G Il25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,170,152...55,173,294
Ensembl chr14:55,170,152...55,173,294 		JBrowse link
G Insm2 insulinoma-associated 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:55,646,212...55,648,818
Ensembl chr12:55,646,212...55,648,871 		JBrowse link
G Ipo4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,862,857...55,873,321
Ensembl chr14:55,862,857...55,873,414 		JBrowse link
G Irf9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,841,442...55,847,487
Ensembl chr14:55,841,028...55,847,487 		JBrowse link
G Jph4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,344,283...55,354,392
Ensembl chr14:55,344,283...55,354,392 		JBrowse link
G Khnyn KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:56,122,269...56,136,237
Ensembl chr14:56,122,404...56,136,232 		JBrowse link
G Klhdc1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,274,529...69,331,420
Ensembl chr12:69,287,950...69,331,406 		JBrowse link
G Klhdc2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,343,455...69,357,461
Ensembl chr12:69,343,455...69,357,461 		JBrowse link
G Klhl28 kelch-like 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:64,985,603...65,012,365
Ensembl chr12:64,985,607...65,012,308 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,737,210...69,771,648
Ensembl chr12:69,737,207...69,771,647 		JBrowse link
G Lrfn5 leucine rich repeat and fibronectin type III domain containing 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:61,569,356...61,913,554
Ensembl chr12:61,569,936...61,905,128 		JBrowse link
G Lrp10 low-density lipoprotein receptor-related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,701,260...54,707,749
Ensembl chr14:54,701,594...54,708,954 		JBrowse link
G Lrr1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,215,588...69,225,786
Ensembl chr12:69,215,588...69,225,783 		JBrowse link
G Ltb4r1 leukotriene B4 receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:56,002,154...56,005,951
Ensembl chr14:56,003,419...56,005,951 		JBrowse link
G Ltb4r2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,995,379...56,001,523
Ensembl chr14:55,998,885...56,002,595 		JBrowse link
G Mbip MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:56,375,091...56,392,681
Ensembl chr12:56,375,088...56,392,679 		JBrowse link
G Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:66,512,832...67,269,323
Ensembl chr12:66,512,834...67,269,323 		JBrowse link
G Mdp1 magnesium-dependent phosphatase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,895,346...55,897,908
Ensembl chr14:55,895,336...55,897,965 		JBrowse link
G Mettl17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,122,375...52,129,325
Ensembl chr14:52,122,299...52,130,496 		JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,532,298...52,548,555
Ensembl chr14:52,532,298...52,542,585 		JBrowse link
G Mgat2 mannoside acetylglucosaminyltransferase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,230,932...69,233,547
Ensembl chr12:69,230,931...69,233,544 		JBrowse link
G Mia2 MIA SH3 domain ER export factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:59,142,368...59,237,006
Ensembl chr12:59,142,585...59,238,369 		JBrowse link
G Mipol1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:57,277,211...57,546,809
Ensembl chr12:57,277,213...57,543,985 		JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,186,517...55,186,599
Ensembl chr14:55,186,517...55,186,599 		JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,213,157...55,213,233
Ensembl chr14:55,213,157...55,213,233 		JBrowse link
G Mis18bp1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:65,179,508...65,219,363
Ensembl chr12:65,179,508...65,219,378 		JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821 		JBrowse link
G Mrpl52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,664,366...54,667,207
Ensembl chr14:54,664,366...54,667,213 		JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
G Ndrg2 N-myc downstream regulated gene 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,142,738...52,151,463
Ensembl chr14:52,142,728...52,151,615 		JBrowse link
G Nedd8 neural precursor cell expressed, developmentally down-regulated gene 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,899,720...55,909,337
Ensembl chr14:55,899,720...55,909,581 		JBrowse link
G Nemf nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,358,315...69,403,975
Ensembl chr12:69,357,296...69,403,939 		JBrowse link
G Nfatc4 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:56,062,252...56,071,400
Ensembl chr14:56,060,601...56,071,400 		JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432 		JBrowse link
G Ngdn neuroguidin, EIF4E binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,252,911...55,261,595
Ensembl chr14:55,252,911...55,261,594 		JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More... RGD:12914768, RGD:12914769, RGD:11073166, RGD:12914770 NCBI chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693 		JBrowse link
G Nkx2-9 NK2 homeobox 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:56,658,174...56,660,354
Ensembl chr12:56,658,174...56,660,069 		JBrowse link
G Nop9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,983,150...55,993,091
Ensembl chr14:55,983,150...55,992,957 		JBrowse link
G Nova1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:46,744,678...46,866,143
Ensembl chr12:46,741,300...46,865,712 		JBrowse link
G Npas3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:53,294,874...54,118,956
Ensembl chr12:53,294,940...54,118,958 		JBrowse link
G Nrl neural retina leucine zipper gene ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,756,973...55,762,438
Ensembl chr14:55,756,435...55,762,438 		JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:52,144,529...52,357,753
Ensembl chr12:52,144,520...52,359,527 		JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:56,091,572...56,112,193
Ensembl chr14:56,091,467...56,112,193 		JBrowse link
G Or10g1 olfactory receptor family 10 subfamily G member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,647,346...52,648,384
Ensembl chr14:52,646,588...52,651,830 		JBrowse link
G Or10g3 olfactory receptor family 10 subfamily G member 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,609,567...52,610,508
Ensembl chr14:52,608,789...52,616,625 		JBrowse link
G Or4e2 olfactory receptor family 4 subfamily E member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,687,850...52,688,859
Ensembl chr14:52,680,447...52,690,031 		JBrowse link
G Or5au1 olfactory receptor family 5 subfamily AU member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,272,631...52,273,566
Ensembl chr14:52,271,419...52,279,916 		JBrowse link
G Oxa1l oxidase assembly 1-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,598,298...54,607,130
Ensembl chr14:54,598,291...54,607,130 		JBrowse link
G Pabpn1 poly(A) binding protein, nuclear 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,131,600...55,136,384
Ensembl chr14:55,129,957...55,135,626 		JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,777,721...55,787,477
Ensembl chr14:55,777,723...55,788,699 		JBrowse link
G Pnn pinin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:59,113,705...59,120,803
Ensembl chr12:59,113,670...59,120,784 		JBrowse link
G Pole2 polymerase (DNA directed), epsilon 2 (p59 subunit) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,248,547...69,274,979
Ensembl chr12:69,248,547...69,274,969 		JBrowse link
G Ppp1r3e protein phosphatase 1, regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,113,054...55,114,995
Ensembl chr14:55,110,126...55,115,007 		JBrowse link
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:55,327,594...55,350,024
Ensembl chr12:55,325,776...55,349,783 		JBrowse link
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:50,388,009...50,696,075
Ensembl chr12:50,388,014...50,695,881 		JBrowse link
G Prmt5 protein arginine N-methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:55,349,422...55,429,276
Ensembl chr12:55,346,362...55,429,318 		JBrowse link
G Prpf39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:65,083,094...65,110,160
Ensembl chr12:65,083,107...65,110,160 		JBrowse link
G Psma6 proteasome subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:55,431,007...55,465,244
Ensembl chr12:55,431,007...55,465,239 		JBrowse link
G Psmb11 proteasome (prosome, macropain) subunit, beta type, 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,862,767...54,867,013
Ensembl chr14:54,858,890...54,867,013 		JBrowse link
G Psmb5 proteasome (prosome, macropain) subunit, beta type 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,851,577...54,855,452
Ensembl chr14:54,851,576...54,855,479 		JBrowse link
G Psme1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,815,951...55,818,984
Ensembl chr14:55,815,580...55,818,986 		JBrowse link
G Psme2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,824,897...55,828,558
Ensembl chr14:55,824,898...55,828,570 		JBrowse link
G Rab2b RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,499,216...52,516,852
Ensembl chr14:52,499,216...52,517,002 		JBrowse link
G Rabggta Rab geranylgeranyl transferase, a subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,953,321...55,959,720
Ensembl chr14:55,952,873...55,959,720 		JBrowse link
G Ralgapa1 Ral GTPase activating protein, alpha subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:55,649,673...55,868,522
Ensembl chr12:55,649,681...55,867,952 		JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,855,459...55,862,852
Ensembl chr14:55,855,494...55,862,852 		JBrowse link
G Rem2 rad and gem related GTP binding protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,713,676...54,717,889
Ensembl chr14:54,713,557...54,717,888 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322 		JBrowse link
G Rn7s2 7S RNA 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,407,957...69,408,255
Ensembl chr12:69,407,956...69,408,255 		JBrowse link
G Rnase1 ribonuclease, RNase A family, 1 (pancreatic) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:51,382,459...51,384,224
Ensembl chr14:51,382,455...51,384,242 		JBrowse link
G Rnase13 ribonuclease, RNase A family, 13 (non-active) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,158,817...52,160,734
Ensembl chr14:52,158,819...52,160,230 		JBrowse link
G Rnase4 ribonuclease, RNase A family 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:51,328,534...51,343,608
Ensembl chr14:51,328,534...51,343,608 		JBrowse link
G Rnase6 ribonuclease, RNase A family, 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:51,361,365...51,369,644
Ensembl chr14:51,361,365...51,369,644 		JBrowse link
G Rnf212b ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,020,798...55,091,567
Ensembl chr14:55,051,598...55,091,565 		JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,829,199...55,841,131
Ensembl chr14:55,829,165...55,841,150 		JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003 		JBrowse link
G Rpl10l ribosomal protein L10-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:66,330,153...66,331,175
Ensembl chr12:66,330,153...66,331,175 		JBrowse link
G Rpl36al ribosomal protein L36A-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,229,508...69,230,841
Ensembl chr12:69,229,505...69,230,857 		JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,204,495...69,205,891
Ensembl chr12:69,204,496...69,205,960 		JBrowse link
G Sall2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,548,634...52,566,127
Ensembl chr14:52,548,629...52,566,219 		JBrowse link
G Scfd1 Sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:51,424,296...51,496,887
Ensembl chr12:51,424,293...51,496,884 		JBrowse link
G Sdr39u1 short chain dehydrogenase/reductase family 39U, member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:56,134,742...56,137,802
Ensembl chr14:56,134,740...56,137,750 		JBrowse link
G Sec23a SEC23 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:59,005,170...59,058,803
Ensembl chr12:59,005,169...59,058,803 		JBrowse link
G Slc22a17 solute carrier family 22 (organic cation transporter), member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,144,184...55,154,527
Ensembl chr14:55,143,761...55,150,589 		JBrowse link
G Slc25a21 solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:56,759,419...57,244,257
Ensembl chr12:56,759,419...57,244,257 		JBrowse link
G Slc39a2 solute carrier family 39 (zinc transporter), member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,130,539...52,134,202
Ensembl chr14:52,130,346...52,134,202 		JBrowse link
G Slc7a7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,606,899...54,657,525
Ensembl chr14:54,606,899...54,655,237 		JBrowse link
G Slc7a8 solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:54,959,672...55,019,343
Ensembl chr14:54,959,666...55,019,403 		JBrowse link
G Snx6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:54,793,124...54,842,464
Ensembl chr12:54,793,134...54,842,488 		JBrowse link
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,630,535...69,728,626
Ensembl chr12:69,630,536...69,728,626 		JBrowse link
G Sptssa serine palmitoyltransferase, small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:54,692,159...54,703,357
Ensembl chr12:54,692,177...54,703,358 		JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:55,127,318...55,162,152
Ensembl chr12:55,127,047...55,162,152 		JBrowse link
G Sstr1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:58,258,524...58,262,822
Ensembl chr12:58,258,558...58,260,673 		JBrowse link
G Strn3 striatin, calmodulin binding protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:51,655,324...51,743,942
Ensembl chr12:51,656,415...51,738,680 		JBrowse link
G Stxbp6 syntaxin binding protein 6 (amisyn) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:44,899,267...45,121,248
Ensembl chr12:44,899,267...45,121,492 		JBrowse link
G Supt16 SPT16, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,397,876...52,434,696
Ensembl chr14:52,397,871...52,434,873 		JBrowse link
G Tgm1 transglutaminase 1, K polypeptide ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,937,466...55,951,378
Ensembl chr14:55,937,466...55,951,383 		JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,332,241...55,336,452
Ensembl chr14:55,332,241...55,336,443 		JBrowse link
G Tinf2 Terf1 (TRF1)-interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,912,120...55,919,265
Ensembl chr14:55,912,146...55,919,277 		JBrowse link
G Tm9sf1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,873,422...55,881,263
Ensembl chr14:55,873,422...55,881,263 		JBrowse link
G Tmem253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,252,309...52,257,244
Ensembl chr14:52,253,115...52,257,251 		JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:65,012,350...65,069,347
Ensembl chr12:65,012,578...65,069,347 		JBrowse link
G Tox4 TOX high mobility group box family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,516,603...52,532,966
Ensembl chr14:52,516,603...52,533,858 		JBrowse link
G Tppp2 tubulin polymerization-promoting protein family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,155,887...52,158,161
Ensembl chr14:52,155,882...52,158,157 		JBrowse link
G Trappc6b trafficking protein particle complex 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:59,089,878...59,108,258
Ensembl chr12:59,089,878...59,108,258 		JBrowse link
G Tssk4 testis-specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,880,893...55,889,996
Ensembl chr14:55,887,641...55,889,996 		JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:57,593,490...57,784,697
Ensembl chr12:57,610,899...57,784,714 		JBrowse link
G Vcpkmt valosin containing protein lysine (K) methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr12:69,623,504...69,629,883
Ensembl chr12:69,624,402...69,629,884 		JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:55,297,722...55,329,875
Ensembl chr14:55,297,719...55,329,781 		JBrowse link
G Zfp219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:52,243,532...52,258,597
Ensembl chr14:52,243,534...52,258,190 		JBrowse link
Childhood-Onset Chorea with Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr88 G-protein coupled receptor 88 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27123486 PMID:28492532 NCBI chr 3:116,043,304...116,047,123
Ensembl chr 3:116,043,303...116,047,152 		JBrowse link
choreaacanthocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna14 guanine nucleotide binding protein, alpha 14 ISO ClinVar Annotator: match by term: Chorea-acanthocytosis ClinVar PMID:15918062 NCBI chr19:16,413,031...16,590,706
Ensembl chr19:16,413,126...16,588,184 		JBrowse link
G Tcirg1 T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 ISO ClinVar Annotator: match by term: Chorea-acanthocytosis ClinVar PMID:10888887 PMID:10942435 PMID:11532986 PMID:16199547 PMID:19448635 More... NCBI chr19:3,946,050...3,957,717
Ensembl chr19:3,946,050...3,957,133 		JBrowse link
G Vps13a vacuolar protein sorting 13A IAGP
ISO		 OMIM:200150
ClinVar Annotator: match by term: Chorea-acanthocytosis | ClinVar Annotator: match by term: VPS13A-related condition		 MouseDO
ClinVar
OMIM		 PMID:9536098 PMID:11381253 PMID:11381254 PMID:12404112 PMID:14663054 More... NCBI chr19:16,592,730...16,758,433
Ensembl chr19:16,592,730...16,758,297 		JBrowse link
Huntington's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase treatment ISO RGD PMID:152600 PMID:6237280 RGD:10047058, RGD:10046047 NCBI chr16:8,331,293...8,439,432
Ensembl chr16:8,331,293...8,439,432 		JBrowse link
G Ache acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 5:137,286,516...137,292,728
Ensembl chr 5:137,285,781...137,292,728 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing IEP protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850 		JBrowse link
G Aifm1 apoptosis-inducing factor, mitochondrion-associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr  X:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440 		JBrowse link
G Apoa4 apolipoprotein A-IV ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757 		JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chr 2:73,646,853...73,723,094
Ensembl chr 2:73,646,853...73,722,983 		JBrowse link
G Atf5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chr 7:44,461,680...44,466,082
Ensembl chr 7:44,461,680...44,466,082 		JBrowse link
G Atrx ATRX, chromatin remodeler IEP RGD PMID:22240898 RGD:11040584 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009 		JBrowse link
G Bag1 BCL2-associated athanogene 1 treatment IMP RGD PMID:18400759 RGD:13506921 NCBI chr 4:40,936,398...40,948,294
Ensembl chr 4:40,936,398...40,948,294 		JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:11299004 PMID:18938217 RGD:10054041, RGD:10054048 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322 		JBrowse link
G Bche butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO RGD PMID:11299004 RGD:10054041 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO
IEP		 mRNA, protein:decreased expression:cerebral cortex RGD PMID:18093249 PMID:19499586 PMID:17885687 RGD:10058981, RGD:10059353, RGD:10415531 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Casp3 caspase 3 treatment IMP
ISO		 RGD PMID:10888929 PMID:15668790 RGD:13432082, RGD:10413886 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Casp8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662 		JBrowse link
G Casp9 caspase 9 severity ISO
IEP		 protein:increased expression:caudate nucleus:
protein:increased expression:striatum:		 RGD PMID:12095160 PMID:12095160 RGD:13432083, RGD:13432083 NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287 		JBrowse link
G Cat catalase ISO protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha treatment IDA
IEP		 protein:altered localization:liver (mouse) RGD PMID:21651979 PMID:17213233 RGD:6484269, RGD:10401191 NCBI chr 7:34,818,718...34,821,353
Ensembl chr 7:34,818,718...34,821,353 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta IEP protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338 		JBrowse link
G Chat choline acetyltransferase IEP mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chr14:32,130,160...32,187,866
Ensembl chr14:32,130,160...32,187,946 		JBrowse link
G Cib1 calcium and integrin binding 1 IEP mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chr 7:79,876,904...79,882,367
Ensembl chr 7:79,876,895...79,882,561 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO
IMP		 RGD PMID:19115380 PMID:19115380 RGD:2316196, RGD:2316196 NCBI chr 4:135,622,500...135,647,530
Ensembl chr 4:135,622,705...135,647,518 		JBrowse link
G Cntf ciliary neurotrophic factor treatment ISO human gene in a cynomolgus monkey model RGD PMID:12040055 PMID:9121555 RGD:628474, RGD:734795 NCBI chr19:12,740,892...12,742,996
Ensembl chr19:12,741,024...12,742,996 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 IAGP
ISO		 protein:decreased phosphorylation:neuron: RGD PMID:11967539 PMID:16420411 RGD:734817, RGD:10059577 NCBI chr 1:64,571,963...64,643,707
Ensembl chr 1:64,571,804...64,643,707 		JBrowse link
G Crebbp CREB binding protein treatment
disease_progression		 IEP
IMP		 protein:altered localization:nucleus RGD PMID:19291221 PMID:20448484 PMID:11264541 RGD:10059583, RGD:13432094, RGD:13432093 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chr 9:89,936,320...89,958,148
Ensembl chr 9:89,936,205...89,958,142 		JBrowse link
G Cycs cytochrome c, somatic severity IEP protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chr 6:50,539,543...50,543,549
Ensembl chr 6:50,539,543...50,543,518 		JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr 5:123,649,393...123,664,825
Ensembl chr 5:123,647,828...123,662,239 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 IEP protein:decreased expression:cerebral cortex, synapse
protein:decreased expression:prefrontal cortex 		RGD PMID:25568121 PMID:24728190 RGD:13432154, RGD:13432155 NCBI chr11:69,908,029...69,938,107
Ensembl chr11:69,907,768...69,938,348 		JBrowse link
G Dnah6 dynein, axonemal, heavy chain 6 treatment IDA RGD PMID:24282028 RGD:13432158 NCBI chr 6:72,994,586...73,199,327
Ensembl chr 6:72,994,589...73,198,634 		JBrowse link
G Drd1 dopamine receptor D1 ISO
IEP
IGI		 protein:decreased expression:cerebral cortex (mouse) RGD PMID:18815258 PMID:16905556 PMID:12111832 RGD:2302117, RGD:7248682, RGD:5686414 NCBI chr13:54,205,202...54,209,677
Ensembl chr13:54,205,202...54,209,724 		JBrowse link
G Drd2 dopamine receptor D2 IGI
IEP		 protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 RGD:5686414, RGD:7248682 NCBI chr 9:49,251,703...49,319,468
Ensembl chr 9:49,251,927...49,319,477 		JBrowse link
G Drd3 dopamine receptor D3 IGI RGD PMID:12111832 RGD:5686414 NCBI chr16:43,574,285...43,646,353
Ensembl chr16:43,574,389...43,643,295 		JBrowse link
G Drd5 dopamine receptor D5 IGI RGD PMID:12111832 RGD:5686414 NCBI chr 5:38,476,742...38,479,868
Ensembl chr 5:38,476,710...38,479,861 		JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment ISO RGD PMID:23392662 RGD:7771544 NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102 		JBrowse link
G Dynlt1a dynein light chain Tctex-type 1A treatment IDA RGD PMID:24282028 RGD:13432158 NCBI chr17:6,356,619...6,367,749
Ensembl chr17:6,356,615...6,367,775 		JBrowse link
G E2f1 E2F transcription factor 1 ISO protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812 		JBrowse link
G Egfr epidermal growth factor receptor IEP RGD PMID:12890790 RGD:10047165 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Egr1 early growth response 1 IEP RGD PMID:12191502 RGD:10395281 NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 IDA
ISO		 RGD PMID:11468270 PMID:15567511 PMID:11468270 RGD:10395345, RGD:10395348, RGD:10395345 NCBI chr17:79,157,933...79,190,001
Ensembl chr17:79,159,993...79,190,002 		JBrowse link
G Elk1 ELK1, member of ETS oncogene family ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:20,799,634...20,816,847
Ensembl chr  X:20,799,634...20,816,847 		JBrowse link
G Ep300 E1A binding protein p300 IEP RGD PMID:12586550 RGD:13432192 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G F2 coagulation factor II ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 4:115,853,866...115,876,034
Ensembl chr 4:115,824,342...115,875,123 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fasl Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Foxp1 forkhead box P1 IEP
ISO		 mRNA:decreased expression:striatum (mouse)
mRNA:decreased expression:caudate nucleus (human)		 RGD PMID:16405510 PMID:16405510 RGD:11560524, RGD:11560524 NCBI chr 6:98,902,303...99,510,587
Ensembl chr 6:98,902,299...99,499,682 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase IDA RGD PMID:26268247 RGD:13792684 NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430 		JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056 		JBrowse link
G Git1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chr11:77,384,114...77,398,600
Ensembl chr11:77,384,388...77,398,612 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Glul glutamate-ammonia ligase ISO RGD PMID:6237280 PMID:3159462 RGD:10046047, RGD:13524508 NCBI chr 1:153,775,692...153,785,469
Ensembl chr 1:153,775,690...153,785,469 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gpx6 glutathione peroxidase 6 ISO RGD PMID:18588971 RGD:13432193 NCBI chr13:21,479,635...21,503,795
Ensembl chr13:21,496,295...21,503,794 		JBrowse link
G Grik2 glutamate receptor, ionotropic, kainate 2 (beta 2) onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chr10:48,969,776...49,666,523
Ensembl chr10:48,970,929...49,664,862 		JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) onset IEP
ISO		 DNA:SNPs: :rs1969060 (human)
DNA:SNPs: :rs8057394, rs2650427 (human)		 RGD PMID:17409241 PMID:15742215 PMID:17569088 RGD:13432195, RGD:13432556, RGD:13432554 NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424 		JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) onset IEP
ISO		 DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human)
DNA:SNP: :2664C>T (rs1806201) (human)		 RGD PMID:17409241 PMID:15742215 PMID:17569088 RGD:13432195, RGD:13432556, RGD:13432554 NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509 		JBrowse link
G Grm5 glutamate receptor, metabotropic 5 treatment
disease_progression		 IDA
IMP		 RGD PMID:23489026 PMID:15306259 PMID:25160573 PMID:24282028 RGD:13432558, RGD:13432562, RGD:13432561, RGD:13432158 NCBI chr 7:87,233,212...87,784,271
Ensembl chr 7:87,233,376...87,784,115 		JBrowse link
G Gsr glutathione reductase treatment ISO RGD PMID:11490092 RGD:10401927 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO RGD PMID:2527078 RGD:13524507 NCBI chr17:84,138,777...84,157,589
Ensembl chr17:84,138,585...84,155,392 		JBrowse link
G Hap1 huntingtin-associated protein 1 onset
no_association		 ISO
IEP
IDA		 DNA:SNP: :p.T441M (human)
DNA:SNP: :rs4523977 (human)
DNA:SNP:multiple		 RGD PMID:18192679 PMID:24324398 PMID:26000918 PMID:20512606 PMID:22402331 More... RGD:13432575, RGD:10401859, RGD:13432579, RGD:13432578, RGD:13432577, RGD:13432576, RGD:13432575 NCBI chr11:100,238,153...100,247,808
Ensembl chr11:100,238,153...100,246,954 		JBrowse link
G Hdac1 histone deacetylase 1 IEP protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex		 RGD PMID:22918830 PMID:22965876 RGD:9590098, RGD:10402189 NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506 		JBrowse link
G Hdac3 histone deacetylase 3 IEP protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex		 RGD PMID:22918830 PMID:22965876 RGD:9590098, RGD:10402189 NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069 		JBrowse link
G Hdac7 histone deacetylase 7 IEP protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chr15:97,690,542...97,742,383
Ensembl chr15:97,690,545...97,742,383 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase IDA RGD PMID:17702587 RGD:5508462 NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444 		JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chr 2:23,892,923...23,939,756
Ensembl chr 2:23,892,922...23,939,406 		JBrowse link
G Hpca hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chr 4:129,005,363...129,019,712
Ensembl chr 4:129,005,363...129,015,829 		JBrowse link
G Hsf1 heat shock factor 1 treatment ISO
IEP
IDA		 human gene in a mouse model
protein:decreased expression:liver (mouse)		 RGD PMID:16051598 PMID:19443488 PMID:24381308 RGD:10402372, RGD:10402387, RGD:10402386 NCBI chr15:76,361,562...76,385,355
Ensembl chr15:76,361,622...76,386,113 		JBrowse link
G Hspa8 heat shock protein 8 IEP protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383 		JBrowse link
G Htra2 HtrA serine peptidase 2 IEP protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chr 6:83,028,247...83,031,552
Ensembl chr 6:83,028,247...83,032,254 		JBrowse link
G Htt huntingtin onset
treatment		 ISO
IAGP		 ClinVar Annotator: match by term: Huntington disease
OMIM:143100
CTD Direct Evidence: marker/mechanism
DNA:repeats:cds:CAG (human)
mRNA:altered expression:cortex, striatum:		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:15218539 PMID:15312898 PMID:16137562 PMID:17018277 PMID:17925440 More... RGD:1302537, RGD:13452381, RGD:11062153, RGD:11062152, RGD:10403029, RGD:10403026, RGD:10402938, RGD:6902915 NCBI chr 5:34,919,084...35,069,878
Ensembl chr 5:34,919,084...35,069,878 		JBrowse link
G Ift57 intraflagellar transport 57 IEP protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr16:49,519,657...49,585,489
Ensembl chr16:49,519,596...49,585,489 		JBrowse link
G Ift88 intraflagellar transport 88 IEP protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment IDA
ISO
IEP		 human protein in a rat model RGD PMID:23384443 PMID:15371744 PMID:25140802 RGD:10045865, RGD:12904970, RGD:10045870 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf1r insulin-like growth factor I receptor IMP RGD PMID:25140802 RGD:10045870 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Il6ra interleukin 6 receptor, alpha treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		JBrowse link
G Ip6k2 inositol hexaphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chr 9:108,660,928...108,683,532
Ensembl chr 9:108,660,995...108,683,536 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 IEP
ISO
IDA		 protein:decreased activity:cerebellum, striatum (mouse)
protein:decreased expression:neostriatum (rat)		 RGD PMID:21145001 PMID:9761455 PMID:19193873 RGD:6480685, RGD:6483009, RGD:6480875 NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070 		JBrowse link
G Kdm5c lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chr  X:151,015,698...151,062,098
Ensembl chr  X:151,016,016...151,057,531 		JBrowse link
G L1cam L1 cell adhesion molecule IMP RGD PMID:17093074 RGD:6483035 NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711 		JBrowse link
G Lep leptin ISO protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876 		JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:16,485,937...16,554,051
Ensembl chr  X:16,485,937...16,554,057 		JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:16,575,520...16,683,605
Ensembl chr  X:16,575,521...16,683,605 		JBrowse link
G Map2 microtubule-associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chr 1:66,214,337...66,481,742
Ensembl chr 1:66,214,432...66,481,742 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 onset
treatment		 IEP
ISO
IMP		 protein:increased expression:cortex,striatum,nucleus:
DNa:SNO:promoter:rs5880308(human)		 RGD PMID:19646509 PMID:18327563 PMID:19646509 RGD:10412311, RGD:10412314, RGD:10412311 NCBI chr10:19,809,847...20,018,496
Ensembl chr10:19,810,218...20,018,499 		JBrowse link
G Mbp myelin basic protein ISO protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762 		JBrowse link
G Meg3 maternally expressed 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr12:109,506,879...109,538,163
Ensembl chr12:109,506,879...109,538,165 		JBrowse link
G Mir132 microRNA 132 IEP down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr11:75,064,508...75,064,573
Ensembl chr11:75,064,508...75,064,573 		JBrowse link
G Mir22 microRNA 22 IEP down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr11:75,354,542...75,354,636
Ensembl chr11:75,354,542...75,354,636 		JBrowse link
G Mir222 microRNA 222 IEP down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:19,013,132...19,013,210
Ensembl chr  X:19,013,132...19,013,210 		JBrowse link
G Mir29c microRNA 29c IEP down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr 1:194,719,855...194,719,942
Ensembl chr 1:194,719,855...194,719,942 		JBrowse link
G Mir448 microRNA 448 IEP up-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:145,941,206...145,941,317
Ensembl chr  X:145,941,206...145,941,317 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Msh2 mutS homolog 2 onset IMP RGD PMID:12554681 RGD:10412317 NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		JBrowse link
G mt-Co2 cytochrome c oxidase II, mitochondrial severity ISO RGD PMID:20660112 RGD:13506651 NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696 		JBrowse link
G mt-Nd3 NADH dehydrogenase 3, mitochondrial ISO RGD PMID:20480544 RGD:5687693 NCBI chr MT:9,459...9,806
Ensembl chr MT:9,459...9,806 		JBrowse link
G Mtnr1a melatonin receptor 1A treatment IEP
ISO		 mRNA:decreased expression:brain RGD PMID:21994366 PMID:21994366 RGD:9686058, RGD:9686058 NCBI chr 8:45,522,144...45,542,270
Ensembl chr 8:45,522,174...45,541,543 		JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D IEP RGD PMID:23659592 RGD:10412654 NCBI chr 5:21,867,899...21,906,620
Ensembl chr 5:21,867,899...21,906,394 		JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chr11:62,207,132...62,348,200
Ensembl chr11:62,207,252...62,349,367 		JBrowse link
G Neat1 nuclear paraspeckle assembly transcript 1 (non-protein coding) ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr19:5,874,736...5,895,508
Ensembl chr19:5,874,736...5,895,898 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 severity IMP RGD PMID:11211235 RGD:10045663 NCBI chr 3:135,290,416...135,397,422
Ensembl chr 3:135,290,416...135,397,308 		JBrowse link
G Ngfr nerve growth factor receptor (TNFR superfamily, member 16) ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561 		JBrowse link
G Nog noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO mRNA:increased expression:striatum (rat) RGD PMID:17850874 RGD:2292130 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Npy neuropeptide Y onset
no_association		 ISO
IEP		 DNA:SNP: :rs3037354 (human)
mRNA:decreased expression:hypothalamus
DNA:SNP: :rs16147 (human)		 RGD PMID:24121255 PMID:1710657 PMID:23697793 PMID:24121255 RGD:10431606, RGD:10433553, RGD:10433112, RGD:10431606 NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487 		JBrowse link
G Npy2r neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chr 3:82,445,688...82,455,404
Ensembl chr 3:82,445,690...82,455,391 		JBrowse link
G Nrf1 nuclear respiratory factor 1 onset IEP
ISO		 mRNA:decreased expression:striatum
DNA:SNPs: :rs6949152, rs7781972 (human)		 RGD PMID:20529956 PMID:21595933 RGD:6771173, RGD:6770890 NCBI chr 6:30,047,984...30,153,462
Ensembl chr 6:30,047,987...30,153,457 		JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819 		JBrowse link
G Pcp4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chr16:96,268,806...96,326,993
Ensembl chr16:96,268,806...96,326,993 		JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO RGD PMID:25315303 RGD:243048432 NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284 		JBrowse link
G Plcb3 phospholipase C, beta 3 IEP RGD PMID:22917585 RGD:13432582 NCBI chr19:6,931,081...6,951,738
Ensembl chr19:6,929,693...6,953,838 		JBrowse link
G Polr2a polymerase (RNA) II (DNA directed) polypeptide A IEP RGD PMID:20089533 RGD:10043799 NCBI chr11:69,624,823...69,649,459
Ensembl chr11:69,624,823...69,649,463 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha onset
severity
no_association
treatment		 ISO
IMP
IDA
IEP		 DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
protein:increased expression:subthalamic nucleus (rat)
DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
protein:increased expression:brain (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
DNA:snps, haplotypes:multiple (human)
mRNA:decreased expression:medium spiny neuron (mouse)
mRNA:decreased expression:caudate nucleus (human)		 RGD PMID:22589246 PMID:22813864 PMID:21211002 PMID:21757867 PMID:19133136 More... RGD:6484259, RGD:10395291, RGD:10395290, RGD:10395289, RGD:10053656, RGD:10053663, RGD:6770890, RGD:10053656, RGD:10053650, RGD:7242018, RGD:10053648, RGD:7242018, RGD:7242018, RGD:6484269 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G Ppp1r1b protein phosphatase 1, regulatory inhibitor subunit 1B ISO RGD PMID:18502785 RGD:13515080 NCBI chr11:98,239,232...98,248,622
Ensembl chr11:98,239,230...98,248,622 		JBrowse link
G Ppp1r9a protein phosphatase 1, regulatory subunit 9A IEP
ISO		 mRNA:decreased expression:striatum(mouse)
mRNA:decreased expression:caudate nucleus		 RGD PMID:20089533 PMID:20089533 RGD:10043799, RGD:10043799 NCBI chr 6:4,902,702...5,165,661
Ensembl chr 6:4,902,917...5,165,661 		JBrowse link
G Ppp3ca protein phosphatase 3, catalytic subunit, alpha isoform IMP RGD PMID:19733666 RGD:6483320 NCBI chr 3:136,375,778...136,643,488
Ensembl chr 3:136,375,885...136,643,488 		JBrowse link
G Prkaa1 protein kinase, AMP-activated, alpha 1 catalytic subunit IDA
ISO		 protein:increased phosphorylation, altered localization:nucleus
protein:altered localization:nucleus		 RGD PMID:21768291 PMID:21768291 RGD:6484534, RGD:6484534 NCBI chr15:5,172,641...5,211,380
Ensembl chr15:5,173,343...5,211,380 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase IMP RGD PMID:19464273 RGD:10412729 NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248 		JBrowse link
G Psmb9 proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2) IEP RGD PMID:14684867 RGD:6483364 NCBI chr17:34,401,006...34,406,347
Ensembl chr17:34,400,961...34,406,738 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21362433 RGD:5508227 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO RGD PMID:2527078 RGD:13524507 NCBI chr 7:126,706,942...126,721,201
Ensembl chr 7:126,706,286...126,721,398 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chr16:92,188,839...92,263,057
Ensembl chr16:92,188,841...92,267,755 		JBrowse link
G Setdb1 SET domain, bifurcated 1 ISO protein:increased expression:neocortex, caudate nucleus (human) RGD PMID:17142323 RGD:9590159 NCBI chr 3:95,230,836...95,264,513
Ensembl chr 3:95,230,836...95,264,513 		JBrowse link
G Sin3a transcriptional regulator, SIN3A (yeast) ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chr 9:56,979,271...57,035,652
Ensembl chr 9:56,979,324...57,035,650 		JBrowse link
G Sirt1 sirtuin 1 IMP
ISO		 human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)
protein:decreased expression:frontal cortex		 RGD PMID:22179316 PMID:9949199 PMID:18538940 RGD:9585998, RGD:10395240, RGD:9586004 NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483 		JBrowse link
G Slc18a3 solute carrier family 18 (vesicular monoamine), member 3 IEP mRNA, protein:decreased expression:brain, spinal cord RGD PMID:16987871 RGD:5686805 NCBI chr14:32,184,394...32,186,807
Ensembl chr14:32,184,395...32,186,807 		JBrowse link
G Slc1a2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 ISO
IEP		 RGD PMID:9100675 PMID:17409241 RGD:13432194, RGD:13432195 NCBI chr 2:102,488,584...102,621,129
Ensembl chr 2:102,489,004...102,621,129 		JBrowse link
G Slc29a1 solute carrier family 29 (nucleoside transporters), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chr17:45,896,126...45,910,544
Ensembl chr17:45,896,126...45,910,532 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial susceptibility IMP RGD PMID:11161607 RGD:13464352 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Srsf6 serine and arginine-rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chr 2:162,773,428...162,779,041
Ensembl chr 2:162,773,448...162,779,041 		JBrowse link
G Syne3 spectrin repeat containing, nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr12:104,896,192...104,976,357
Ensembl chr12:104,896,192...104,976,068 		JBrowse link
G Tbp TATA box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chr17:15,720,150...15,737,689
Ensembl chr17:15,720,150...15,748,641 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO
IEP		 mRNA:decreased expression:striatum RGD PMID:21595933 PMID:20529956 RGD:6770890, RGD:6771173 NCBI chr10:71,061,298...71,074,157
Ensembl chr10:71,061,294...71,074,110 		JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566 		JBrowse link
G Trip10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chr17:57,540,227...57,570,712
Ensembl chr17:57,556,455...57,570,665 		JBrowse link
G Tug1 taurine upregulated gene 1 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr11:3,589,313...3,599,021
Ensembl chr11:3,589,785...3,599,673 		JBrowse link
G Ucp1 uncoupling protein 1 (mitochondrial, proton carrier) treatment IDA
IEP		 mRNA, protein:decreased expression:brown adipose tissue (mouse) RGD PMID:20561979 PMID:17055784 RGD:10045649, RGD:10045650 NCBI chr 8:84,016,977...84,025,085
Ensembl chr 8:84,016,981...84,025,081 		JBrowse link
G Ucp2 uncoupling protein 2 (mitochondrial, proton carrier) ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227 		JBrowse link
G Xpo5 exportin 5 IEP mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chr17:46,513,737...46,554,524
Ensembl chr17:46,513,708...46,554,524 		JBrowse link
G Zdhhc13 zinc finger, DHHC domain containing 13 IAGP OMIM:143100 MouseDO NCBI chr 7:48,438,751...48,477,188
Ensembl chr 7:48,438,751...48,477,188 		JBrowse link
G Zdhhc17 zinc finger, DHHC domain containing 17 IAGP OMIM:143100 MouseDO NCBI chr10:110,777,640...110,848,587
Ensembl chr10:110,777,641...110,846,001 		JBrowse link
Huntington's disease-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700020A23Rik RIKEN cDNA 1700020A23 gene ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,247,179...130,247,994
Ensembl chr 2:130,247,179...130,247,994 		JBrowse link
G Adam33 a disintegrin and metallopeptidase domain 33 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,892,739...130,905,734
Ensembl chr 2:130,892,511...130,905,734 		JBrowse link
G Adissp adipose secreted signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,988,235...131,002,001
Ensembl chr 2:130,988,244...131,002,001 		JBrowse link
G Adra1d adrenergic receptor, alpha 1d ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:131,387,277...131,404,417
Ensembl chr 2:131,387,770...131,404,203 		JBrowse link
G Ap5s1 adaptor-related protein 5 complex, sigma 1 subunit ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:131,052,280...131,055,434
Ensembl chr 2:131,048,998...131,055,434 		JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,734,363...130,872,249
Ensembl chr 2:130,748,415...130,872,253 		JBrowse link
G Avp arginine vasopressin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,422,540...130,424,508
Ensembl chr 2:130,422,540...130,424,474 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805 		JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:131,028,356...131,040,431
Ensembl chr 2:131,028,869...131,040,417 		JBrowse link
G Cds2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:132,105,068...132,153,970
Ensembl chr 2:132,105,068...132,153,970 		JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:131,019,209...131,021,974
Ensembl chr 2:131,017,102...131,021,987 		JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:132,623,562...132,636,999
Ensembl chr 2:132,623,198...132,636,999 		JBrowse link
G Cpxm1 carboxypeptidase X, M14 family member 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,232,695...130,239,549
Ensembl chr 2:130,232,695...130,239,494 		JBrowse link
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:132,688,557...132,708,706
Ensembl chr 2:132,688,586...132,708,705 		JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,495,955...130,506,549
Ensembl chr 2:130,495,880...130,506,579 		JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,548,120...130,682,565
Ensembl chr 2:130,548,120...130,748,326 		JBrowse link
G Ebf4 early B cell factor 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,134,832...130,212,402
Ensembl chr 2:130,137,089...130,212,401 		JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,455,766...130,471,922
Ensembl chr 2:130,455,760...130,471,947 		JBrowse link
G Fermt1 fermitin family member 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:132,746,097...132,787,956
Ensembl chr 2:132,746,309...132,787,826 		JBrowse link
G Gfra4 glial cell line derived neurotrophic factor family receptor alpha 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,881,552...130,885,008
Ensembl chr 2:130,881,552...130,885,008 		JBrowse link
G Gpcpd1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:132,371,002...132,420,173
Ensembl chr 2:132,371,002...132,429,649 		JBrowse link
G Hspa12b heat shock protein 12B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,969,332...130,987,905
Ensembl chr 2:130,969,200...130,988,241 		JBrowse link
G Idh3b isocitrate dehydrogenase 3 (NAD+) beta ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,121,229...130,126,371
Ensembl chr 2:130,121,229...130,126,467 		JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534 		JBrowse link
G Lrrn4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:132,710,436...132,735,930
Ensembl chr 2:132,710,225...132,722,811 		JBrowse link
G Lzts3 leucine zipper, putative tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,474,685...130,484,764
Ensembl chr 2:130,474,759...130,484,723 		JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:131,075,445...131,089,945
Ensembl chr 2:131,075,983...131,089,945 		JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:132,658,061...132,686,117
Ensembl chr 2:132,658,061...132,686,117 		JBrowse link
G Mir103-2 microRNA 103-2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:131,129,972...131,130,057
Ensembl chr 2:131,129,972...131,130,057 		JBrowse link
G Mrps26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,405,677...130,407,314
Ensembl chr 2:130,405,662...130,410,615 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,112,904...130,121,233
Ensembl chr 2:130,116,350...130,121,233 		JBrowse link
G Oxt oxytocin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,416,432...130,418,974
Ensembl chr 2:130,418,093...130,418,974 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:131,103,928...131,141,108
Ensembl chr 2:131,104,415...131,141,108 		JBrowse link
G Pced1a PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,259,603...130,266,692
Ensembl chr 2:130,259,167...130,266,621 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234 		JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:129,528,469...129,541,858
Ensembl chr 2:129,528,485...129,541,764 		JBrowse link
G Prnd prion like protein doppel ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:131,792,781...131,798,051
Ensembl chr 2:131,792,781...131,798,050 		JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES		 CTD
ClinVar
OMIM		 PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 More... NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:132,211,625...132,227,413
Ensembl chr 2:132,179,653...132,227,367 		JBrowse link
G Ptpra protein tyrosine phosphatase receptor type A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,292,198...130,396,220
Ensembl chr 2:130,292,198...130,398,044 		JBrowse link
G Rassf2 Ras association (RalGDS/AF-6) domain family member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:131,834,770...131,872,336
Ensembl chr 2:131,831,335...131,872,178 		JBrowse link
G Rnf24 ring finger protein 24 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:131,139,984...131,194,766
Ensembl chr 2:131,139,984...131,194,812 		JBrowse link
G Shld1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:132,528,871...132,592,975
Ensembl chr 2:132,528,851...132,592,975 		JBrowse link
G Siglec1 sialic acid binding Ig-like lectin 1, sialoadhesin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,911,140...130,928,697
Ensembl chr 2:130,911,140...130,928,685 		JBrowse link
G Slc23a2 solute carrier family 23 (nucleobase transporters), member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:131,894,416...131,987,287
Ensembl chr 2:131,894,416...131,987,028 		JBrowse link
G Slc4a11 solute carrier family 4, sodium bicarbonate transporter-like, member 11 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,526,027...130,539,439
Ensembl chr 2:130,526,033...130,539,439 		JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:131,333,624...131,367,103
Ensembl chr 2:131,333,416...131,367,842 		JBrowse link
G Snrpb small nuclear ribonucleoprotein B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,013,560...130,031,184
Ensembl chr 2:130,013,555...130,021,323 		JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:131,012,181...131,016,730
Ensembl chr 2:131,012,181...131,029,202 		JBrowse link
G Stk35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:129,642,437...129,674,207
Ensembl chr 2:129,642,437...129,674,207 		JBrowse link
G Tgm3 transglutaminase 3, E polypeptide ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:129,829,700...129,890,814
Ensembl chr 2:129,854,269...129,892,319 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:129,954,336...129,996,153
Ensembl chr 2:129,954,336...129,996,152 		JBrowse link
G Tmc2 transmembrane channel-like gene family 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,037,114...130,106,365
Ensembl chr 2:130,037,114...130,106,365 		JBrowse link
G Tmem230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:132,081,412...132,089,708
Ensembl chr 2:132,081,412...132,089,727 		JBrowse link
G Tmem239 transmembrane 239 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,248,442...130,249,714
Ensembl chr 2:130,248,398...130,249,822 		JBrowse link
G Trmt6 tRNA methyltransferase 6 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:132,646,127...132,658,127
Ensembl chr 2:132,646,127...132,657,975 		JBrowse link
G Ubox5 U box domain containing 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,431,916...130,471,958
Ensembl chr 2:130,431,922...130,471,958 		JBrowse link
G Vps16 VSP16 CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:130,265,744...130,286,189
Ensembl chr 2:130,266,259...130,286,189 		JBrowse link
Huntington's disease-like 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jph3 junctophilin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Huntington disease-like 2		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015 		JBrowse link
McLeod syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xk X-linked Kx blood group ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome		 OMIM
CTD
ClinVar		 PMID:8004674 PMID:8619554 PMID:10426139 PMID:11261514 PMID:11703337 More... NCBI chr  X:9,139,023...9,179,484
Ensembl chr  X:9,138,995...9,179,489 		JBrowse link
mitochondrial DNA depletion syndrome 16B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) ClinVar PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr11:106,641,472...106,659,620
Ensembl chr11:106,642,052...106,659,620 		JBrowse link
G Polg2 polymerase (DNA directed), gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr11:106,659,030...106,670,363
Ensembl chr11:106,659,079...106,670,363 		JBrowse link
neuroacanthocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13a vacuolar protein sorting 13A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:16,592,730...16,758,433
Ensembl chr19:16,592,730...16,758,297 		JBrowse link
G Xk X-linked Kx blood group ISO CTD Direct Evidence: marker/mechanism CTD PMID:8619554 PMID:11761473 NCBI chr  X:9,139,023...9,179,484
Ensembl chr  X:9,138,995...9,179,489 		JBrowse link
paroxysmal nonkinesigenic dyskinesia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aamp angio-associated migratory protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,318,999...74,324,833
Ensembl chr 1:74,318,999...74,323,897 		JBrowse link
G Abcb6 ATP-binding cassette, sub-family B member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036 		JBrowse link
G Ankzf1 ankyrin repeat and zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,168,794...75,176,031
Ensembl chr 1:75,168,795...75,176,031 		JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,275,656...74,307,368
Ensembl chr 1:74,275,243...74,307,368 		JBrowse link
G Asic4 acid-sensing ion channel family member 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,426,467...75,450,984
Ensembl chr 1:75,427,080...75,450,987 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,157,509...75,168,654
Ensembl chr 1:75,157,504...75,168,840 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,627,448...74,631,602
Ensembl chr 1:74,627,448...74,631,602 		JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,401,272...74,408,482
Ensembl chr 1:74,401,267...74,408,480 		JBrowse link
G Cdk5r2 cyclin dependent kinase 5, regulatory subunit 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,894,188...74,896,891
Ensembl chr 1:74,894,093...74,896,891 		JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,941,230...74,974,785
Ensembl chr 1:74,941,230...74,974,758 		JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,451,213...75,456,115
Ensembl chr 1:75,451,213...75,455,951 		JBrowse link
G Cnot9 CCR4-NOT transcription complex, subunit 9 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,545,192...74,570,001
Ensembl chr 1:74,545,217...74,570,001 		JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,112,406...75,119,374
Ensembl chr 1:75,111,198...75,119,355 		JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,929,093...74,938,001
Ensembl chr 1:74,929,093...74,932,302 		JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,430,625...74,436,444
Ensembl chr 1:74,430,668...74,436,444 		JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,228,862...74,233,867
Ensembl chr 1:74,230,944...74,233,790 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,752,311...74,777,056
Ensembl chr 1:74,752,733...74,777,051 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,213,039...75,222,336
Ensembl chr 1:75,213,050...75,222,336 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,285,209...75,294,648
Ensembl chr 1:75,284,540...75,294,634 		JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,920,660...74,924,632
Ensembl chr 1:74,920,668...74,924,578 		JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,174,178...75,187,460
Ensembl chr 1:75,174,880...75,187,457 		JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,412,555...75,419,823
Ensembl chr 1:75,412,574...75,419,823 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,316,269...74,318,868
Ensembl chr 1:74,317,709...74,318,783 		JBrowse link
G Ihh Indian hedgehog ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831 		JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,433,469...74,433,553
Ensembl chr 1:74,433,469...74,433,553 		JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,939,817...74,939,880
Ensembl chr 1:74,939,817...74,939,880 		JBrowse link
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,006,505...75,101,870
Ensembl chr 1:75,006,298...75,101,844 		JBrowse link
G Obsl1 obscurin-like 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,462,469...75,483,134
Ensembl chr 1:75,455,954...75,483,096 		JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,581,175...74,605,137
Ensembl chr 1:74,582,047...74,606,953 		JBrowse link
G Pnkd paroxysmal nonkinesiogenic dyskinesia ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8659518 PMID:9490305 PMID:9536098 PMID:15262732 PMID:15496428 More... NCBI chr 1:74,323,757...74,392,851
Ensembl chr 1:74,324,089...74,392,853 		JBrowse link
G Prkag3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,778,062...74,788,623
Ensembl chr 1:74,778,081...74,788,380 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis ClinVar PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 More... NCBI chr 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383 		JBrowse link
G Ptprn protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,223,679...75,241,437
Ensembl chr 1:75,223,671...75,241,146 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,248,841...75,255,059
Ensembl chr 1:75,248,843...75,255,059 		JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,119,432...75,124,553
Ensembl chr 1:75,119,422...75,124,557 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,632,907...74,640,556
Ensembl chr 1:74,632,907...74,640,556 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Slc23a3 solute carrier family 23 (nucleobase transporters), member 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,102,185...75,112,113
Ensembl chr 1:75,102,185...75,110,534 		JBrowse link
G Speg SPEG complex locus ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,351,931...75,408,964
Ensembl chr 1:75,351,941...75,408,964 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,187,463...75,192,250
Ensembl chr 1:75,187,482...75,192,250 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,640,583...74,676,053
Ensembl chr 1:74,640,604...74,676,053 		JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,327,406...74,343,495
Ensembl chr 1:74,327,406...74,344,781 		JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,456,115...75,462,337
Ensembl chr 1:75,456,176...75,462,349 		JBrowse link
G Ttll4 tubulin tyrosine ligase-like family, member 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,700,804...74,740,991
Ensembl chr 1:74,700,904...74,742,889 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,190,867...75,197,905
Ensembl chr 1:75,190,872...75,196,509 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,474,669...74,583,447
Ensembl chr 1:74,474,670...74,583,443 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,448,543...74,474,719
Ensembl chr 1:74,448,535...74,474,718 		JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
G Wnt6 wingless-type MMTV integration site family, member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,793,499...74,824,481
Ensembl chr 1:74,811,051...74,824,481 		JBrowse link
G Zfand2b zinc finger, AN1 type domain 2B ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:75,145,290...75,148,270
Ensembl chr 1:75,145,290...75,148,273 		JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr 1:74,605,490...74,627,308
Ensembl chr 1:74,604,286...74,627,405 		JBrowse link
paroxysmal nonkinesigenic dyskinesia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlg5 discs large MAGUK scaffold protein 5 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:28492532 NCBI chr14:24,184,021...24,295,988
Ensembl chr14:24,184,021...24,295,988 		JBrowse link
G Kcna1 potassium voltage-gated channel, shaker-related subfamily, member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:25741868 PMID:34305802 NCBI chr 6:126,613,426...126,622,764
Ensembl chr 6:126,617,360...126,623,347 		JBrowse link
G Kcnma1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:15937479 PMID:16199547 PMID:16946189 PMID:17576681 More... NCBI chr14:23,342,356...24,055,173
Ensembl chr14:23,339,499...24,064,559 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        Neurologic Manifestations 9788
          Dyskinesias 2175
            choreatic disease 460
              3-methylglutaconic aciduria type 3 2
              Benign Familial Chorea 1
              Brain-Lung-Thyroid Syndrome 176
              Childhood-Onset Chorea with Psychomotor Retardation 1
              Choreoathetosis, Familial Inverted 0
              Huntington's disease + 205
              Huntington's disease-like 2 1
              Remitting Chorea with Nystagmus and Cataracts 0
              chorea gravidarum 0
              mitochondrial DNA depletion syndrome 16B 2
              neuroacanthocytosis + 4
              paroxysmal nonkinesigenic dyskinesia 1 53
              paroxysmal nonkinesigenic dyskinesia 2 0
              paroxysmal nonkinesigenic dyskinesia 3 3
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            movement disease 2557
              Dyskinesias 2175
                choreatic disease 460
                  3-methylglutaconic aciduria type 3 2
                  Benign Familial Chorea 1
                  Brain-Lung-Thyroid Syndrome 176
                  Childhood-Onset Chorea with Psychomotor Retardation 1
                  Choreoathetosis, Familial Inverted 0
                  Huntington's disease + 205
                  Huntington's disease-like 2 1
                  Remitting Chorea with Nystagmus and Cataracts 0
                  chorea gravidarum 0
                  mitochondrial DNA depletion syndrome 16B 2
                  neuroacanthocytosis + 4
                  paroxysmal nonkinesigenic dyskinesia 1 53
                  paroxysmal nonkinesigenic dyskinesia 2 0
                  paroxysmal nonkinesigenic dyskinesia 3 3
paths to the root