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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 voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr13:32,845,110...32,988,851
Ensembl chr13:32,845,115...32,988,774 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844 		JBrowse link
G EBF3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr14:138,819,846...138,935,504
Ensembl chr14:138,819,848...138,935,462 		JBrowse link
G GLRX3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr14:139,072,554...139,108,063
Ensembl chr14:139,072,575...139,111,249 		JBrowse link
G GNAO1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 PMID:28492532 PMID:28668776 PMID:29389947 PMID:29935962 More... NCBI chr 6:29,416,574...29,592,874
Ensembl chr 6:29,416,708...29,592,516 		JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973 		JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr 7:63,659,223...63,684,545
Ensembl chr 7:63,659,232...63,687,552 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Paroxysmal dyskinesia ClinVar PMID:32581362 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540 		JBrowse link
G MIPOL1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr 7:62,517,130...62,796,046
Ensembl chr 7:62,515,039...62,796,000 		JBrowse link
G NKX2-1 NK2 homeobox 1 susceptibility ISO ClinVar Annotator: match by term: Benign hereditary chorea | ClinVar Annotator: match by term: HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
DNA:transition: ; 745C>T		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 More... RGD:1600157 NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575 		JBrowse link
G NKX2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr 7:63,418,149...63,425,651
Ensembl chr 7:63,423,403...63,426,514 		JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310 		JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:82,031,365...82,153,159
Ensembl chr  X:82,036,199...82,151,652 		JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: Choreatic disease ClinVar PMID:25741868 PMID:32467598 NCBI chr 9:7,136,637...7,227,966
Ensembl chr 9:7,136,644...7,227,964 		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 1:159,317,734...159,417,335
Ensembl chr 1:159,317,734...159,417,327 		JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Benign hereditary chorea ClinVar PMID:11971878 NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,810,937...63,325,625 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A ISO choreoacanthocytosis, OMIM:200150 RGD PMID:11381253 RGD:1599747 NCBI chr 1:230,069,339...230,331,343
Ensembl chr 1:230,069,368...230,331,200 		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 chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,270 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome OMIM
ClinVar		 PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 6:51,917,956...51,967,624
Ensembl chr 6:51,917,379...51,964,488 		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:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)
DNA:splice-site mutation:intron:c.464-9C>A (human)
DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human)		 RGD PMID:11971878 PMID:18788921 PMID:22825795 RGD:11073166 RGD:12914772 RGD:12914773 NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575 		JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD4 abhydrolase domain containing 4, N-acyl phospholipase B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,396,548...76,431,836
Ensembl chr 7:76,396,484...76,431,809 		JBrowse link
G ACIN1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,951,203...75,989,234
Ensembl chr 7:75,951,203...75,989,231 		JBrowse link
G ADCY4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,955,410...74,972,440
Ensembl chr 7:74,956,220...74,972,196 		JBrowse link
G AJUBA ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,063,009...76,072,884
Ensembl chr 7:76,063,058...76,076,585 		JBrowse link
G AKAP6 A-kinase anchoring protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:66,913,541...67,462,147
Ensembl chr 7:66,915,881...67,375,177 		JBrowse link
G ANG angiogenin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138 		JBrowse link
G AP1G2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,533,131...75,549,490
Ensembl chr 7:75,533,202...75,549,488 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,420,286...68,475,643
Ensembl chr 7:68,393,285...68,471,722 		JBrowse link
G ARF6 ADP ribosylation factor 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,697,582...179,717,299
Ensembl chr 1:179,713,299...179,717,841 		JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:67,494,237...67,631,461
Ensembl chr 7:67,494,941...67,594,197 		JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,043,995...78,067,546
Ensembl chr 7:78,042,057...78,064,913 		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 chr 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889 		JBrowse link
G BCL2L2 BCL2 like 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,765,603...75,770,743
Ensembl chr 7:75,763,078...75,769,763 		JBrowse link
G BRMS1L BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,083,286...64,123,852
Ensembl chr 7:64,083,289...64,123,857 		JBrowse link
G C1H14orf28 chromosome 1 C14orf28 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:175,145,918...175,156,597
Ensembl chr 1:175,145,913...175,156,606 		JBrowse link
G C7H14orf119 chromosome 7 C14orf119 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,947,765...75,951,047
Ensembl chr 7:75,947,769...75,950,956 		JBrowse link
G C7H14orf93 chromosome 7 C14orf93 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,033,750...76,061,877
Ensembl chr 7:76,045,686...76,058,891 		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 chr 7:75,222,528...75,241,243
Ensembl chr 7:75,222,528...75,241,242 		JBrowse link
G CBLN3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,865,931...74,868,443
Ensembl chr 7:74,864,114...74,868,445 		JBrowse link
G CDH24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,990,185...76,001,133
Ensembl chr 7:75,990,220...76,001,130 		JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,926,652...75,929,949
Ensembl chr 7:75,927,662...75,929,769 		JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:65,090,170...65,094,521
Ensembl chr 7:65,090,276...65,094,512 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,719,476...77,780,148
Ensembl chr 7:77,719,582...77,780,146 		JBrowse link
G CHMP4A charged multivesicular body protein 4A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,089,092...75,093,796
Ensembl chr 7:75,089,423...75,097,761 		JBrowse link
G CIDEB cell death inducing DFFA like effector b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,982,941...74,985,776
Ensembl chr 7:74,982,855...74,985,775 		JBrowse link
G CLEC14A C-type lectin domain containing 14A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:61,825,688...61,827,960
Ensembl chr 7:61,826,015...61,832,808 		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 chr 7:75,707,132...75,709,809
Ensembl chr 7:75,701,741...75,710,003 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077 		JBrowse link
G CPNE6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,213,643...75,219,031
Ensembl chr 7:75,213,644...75,219,031 		JBrowse link
G DAD1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,432,040...76,457,403
Ensembl chr 7:76,432,051...76,457,192 		JBrowse link
G DCAF11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,169,701...75,181,137
Ensembl chr 7:75,168,992...75,180,953 		JBrowse link
G DHRS1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,992,120...75,002,154
Ensembl chr 7:74,992,115...75,002,148 		JBrowse link
G DHRS4 dehydrogenase/reductase (SDR family) member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,242,121...75,255,594
Ensembl chr 7:75,242,124...75,255,598 		JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,482,189...179,491,136
Ensembl chr 1:179,482,208...179,491,142 		JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,105,268...68,118,220
Ensembl chr 7:68,106,224...68,116,986 		JBrowse link
G EAPP E2F associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:65,240,209...65,263,201
Ensembl chr 7:65,240,220...65,263,272 		JBrowse link
G EDDM3B epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,233,991...78,236,747
Ensembl chr 7:78,233,991...78,236,747 		JBrowse link
G EFS embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,720,033...75,731,615
Ensembl chr 7:75,722,183...75,731,610 		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 chr 7:65,805,513...65,833,536
Ensembl chr 7:65,805,522...65,833,529 		JBrowse link
G EMC9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,159,150...75,161,917
Ensembl chr 7:75,159,236...75,161,829 		JBrowse link
G FAM177A1 family with sequence similarity 177 member A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,788,829...64,808,640
Ensembl chr 7:64,788,077...64,808,473 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685 		JBrowse link
G FBXO33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:169,877,189...169,915,856
Ensembl chr 1:169,877,197...169,915,798 		JBrowse link
G FITM1 fat storage inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,166,986...75,168,240
Ensembl chr 7:75,166,912...75,168,245 		JBrowse link
G FKBP3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:175,317,558...175,332,705
Ensembl chr 1:175,317,559...175,332,987 		JBrowse link
G FOXA1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:62,471,233...62,479,638
Ensembl chr 7:62,471,249...62,479,220 		JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:70,656,603...70,660,236
Ensembl chr 7:70,658,685...70,660,145 		JBrowse link
G FSCB fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:174,732,612...174,734,834 JBrowse link
G G2E3 G2/M-phase specific E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,854,410...68,917,070
Ensembl chr 7:68,852,777...68,916,992 		JBrowse link
G GEMIN2 gem nuclear organelle associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:169,676,152...169,701,475
Ensembl chr 1:169,676,156...169,701,481 		JBrowse link
G GMPR2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,060,680...75,070,079
Ensembl chr 7:75,060,676...75,070,084 		JBrowse link
G GPR33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,084,248...68,088,895
Ensembl chr 7:68,084,248...68,088,895 		JBrowse link
G GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,705,499...74,708,781
Ensembl chr 7:74,705,409...74,708,790 		JBrowse link
G HAUS4 HAUS augmin like complex subunit 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,085,613...76,097,954
Ensembl chr 7:76,085,608...76,097,953 		JBrowse link
G HEATR5A HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,143,597...68,259,087
Ensembl chr 7:68,211,624...68,259,794 		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 chr 7:68,318,167...68,422,403
Ensembl chr 7:68,318,417...68,422,394 		JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,921,098...77,978,550
Ensembl chr 7:77,921,145...77,973,078 		JBrowse link
G HOMEZ homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,789,184...75,798,027
Ensembl chr 7:75,789,185...75,798,026 		JBrowse link
G IL25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,710,453...75,717,688
Ensembl chr 7:75,709,995...75,714,355 		JBrowse link
G INSM2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,372,361...64,378,366
Ensembl chr 7:64,374,823...64,376,495 		JBrowse link
G IPO4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,103,971...75,110,027
Ensembl chr 7:75,100,273...75,110,446 		JBrowse link
G IPO4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,109,844...75,118,739
Ensembl chr 7:75,110,082...75,118,733 		JBrowse link
G IRF9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,133,800...75,139,641
Ensembl chr 7:75,126,622...75,139,640 		JBrowse link
G JPH4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,522,349...75,532,983
Ensembl chr 7:75,522,630...75,532,982 		JBrowse link
G KHNYN KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,854,209...74,872,491
Ensembl chr 7:74,854,379...74,874,882 		JBrowse link
G KLHDC1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,540,222...179,605,556
Ensembl chr 1:179,540,547...179,605,628 		JBrowse link
G KLHDC2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,609,026...179,623,168
Ensembl chr 1:179,604,921...179,633,156 		JBrowse link
G KLHL28 kelch like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:175,164,028...175,199,177
Ensembl chr 1:175,164,040...175,178,727 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:180,020,862...180,069,168
Ensembl chr 1:180,020,863...180,069,146 		JBrowse link
G LOC100154047 cathepsin G ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,761,602...74,772,950 JBrowse link
G LOC100510915 olfactory receptor 4E2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,528,181...77,529,122
Ensembl chr 7:77,528,181...77,529,122 		JBrowse link
G LOC100512910 olfactory receptor 10G3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,592,790...77,594,408
Ensembl chr 7:77,592,790...77,593,731 		JBrowse link
G LOC100517834 olfactory receptor 10G2-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,547,096...77,548,227 JBrowse link
G LOC100626020 ribonuclease 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,092,656...78,096,093 JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G LOC102163838 non-secretory ribonuclease-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,179,285...78,180,221 JBrowse link
G LOC110261607 olfactory receptor 5AU1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,992,961...77,998,062
Ensembl chr 7:77,996,783...77,997,718 		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 chr 1:171,906,130...172,177,726
Ensembl chr 1:171,906,198...172,177,720 		JBrowse link
G LRP10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,149,304...76,159,397
Ensembl chr 7:76,149,307...76,158,891 		JBrowse link
G LRR1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,461,399...179,475,337
Ensembl chr 1:179,462,247...179,475,334 		JBrowse link
G LTB4R leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,972,723...74,978,266
Ensembl chr 7:74,974,308...74,975,357 		JBrowse link
G LTB4R2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,978,871...74,983,811
Ensembl chr 7:74,978,876...74,983,768 		JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:63,659,223...63,684,545
Ensembl chr 7:63,659,232...63,687,552 		JBrowse link
G MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:176,770,045...177,595,012
Ensembl chr 1:176,770,071...177,593,876 		JBrowse link
G MDP1 magnesium dependent phosphatase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,087,443...75,088,944
Ensembl chr 7:75,087,468...75,089,227 		JBrowse link
G METTL17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,138,237...78,145,322
Ensembl chr 7:78,138,233...78,145,331 		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 chr 7:77,661,945...77,679,459
Ensembl chr 7:77,662,058...77,695,934 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,478,464...179,479,804
Ensembl chr 1:179,477,992...179,479,801 		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 chr 1:169,777,581...169,868,308 JBrowse link
G MIPOL1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:62,517,130...62,796,046
Ensembl chr 7:62,515,039...62,796,000 		JBrowse link
G MIR208B microRNA mir-208b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,667,786...75,667,865
Ensembl chr 7:75,667,786...75,667,865 		JBrowse link
G MIS18BP1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:175,401,386...175,449,399
Ensembl chr 1:175,401,390...175,448,276 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928 		JBrowse link
G MRPL52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,187,447...76,191,647
Ensembl chr 7:76,187,446...76,191,901 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G NDRG2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,111,736...78,121,216
Ensembl chr 7:78,112,536...78,121,215 		JBrowse link
G NEDD8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,069,947...75,085,905
Ensembl chr 7:75,070,161...75,085,899 		JBrowse link
G NEMF nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,622,728...179,671,225
Ensembl chr 1:179,622,755...179,670,996 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,918,982...74,929,688
Ensembl chr 7:74,918,984...74,929,600 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		JBrowse link
G NGDN neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,621,334...75,629,447 JBrowse link
G NKX2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress OMIM
ClinVar		 PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More... NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575 		JBrowse link
G NKX2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:63,418,149...63,425,651
Ensembl chr 7:63,423,403...63,426,514 		JBrowse link
G NOP9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,985,748...74,992,108
Ensembl chr 7:74,985,753...74,992,946 		JBrowse link
G NOVA1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:72,805,138...72,961,257
Ensembl chr 7:72,805,230...72,961,258 		JBrowse link
G NPAS3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:65,924,986...66,800,820
Ensembl chr 7:65,928,075...66,800,991 		JBrowse link
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,199,048...75,211,655
Ensembl chr 7:75,206,719...75,210,529 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:67,785,652...68,028,561
Ensembl chr 7:67,784,639...68,028,552 		JBrowse link
G NYNRIN NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,877,910...74,898,596
Ensembl chr 7:74,879,260...74,898,568 		JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,234,710...76,266,700
Ensembl chr 7:76,230,889...76,266,429 		JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,752,571...75,756,522
Ensembl chr 7:75,751,760...75,756,700 		JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310 		JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,187,195...75,197,613
Ensembl chr 7:75,187,197...75,197,733 		JBrowse link
G PNN pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:169,725,649...169,734,003
Ensembl chr 1:169,725,649...169,734,003 		JBrowse link
G POLE2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,495,278...179,529,891
Ensembl chr 1:179,495,214...179,529,896 		JBrowse link
G PPP1R3E protein phosphatase 1 regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,770,813...75,782,717
Ensembl chr 7:75,776,720...75,780,649 		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 chr 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921 		JBrowse link
G PRKD1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:69,527,743...69,872,374
Ensembl chr 7:69,527,811...69,872,863 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,124,989 		JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428 		JBrowse link
G PRPF39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:175,285,219...175,317,245
Ensembl chr 1:175,285,270...175,317,298 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,578,247...64,603,351
Ensembl chr 7:64,578,243...64,616,491 		JBrowse link
G PSMB11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,005,609...76,006,728
Ensembl chr 7:76,005,612...76,006,703 		JBrowse link
G PSMB5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,014,576...76,021,922 JBrowse link
G PSME1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,161,830...75,164,531
Ensembl chr 7:75,160,766...75,164,810 		JBrowse link
G PSME2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,154,570...75,157,871
Ensembl chr 7:75,153,965...75,157,870 		JBrowse link
G RAB2B RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,698,907...77,717,211
Ensembl chr 7:77,689,551...77,716,772 		JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,021,716...75,028,229
Ensembl chr 7:75,021,755...75,028,875 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,140,977...64,372,683
Ensembl chr 7:64,141,014...64,372,694 		JBrowse link
G RBM23 RNA binding motif protein 23 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,120,725...76,132,148
Ensembl chr 7:76,124,944...76,136,596 		JBrowse link
G REC8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,118,743...75,127,759
Ensembl chr 7:75,118,744...75,125,537 		JBrowse link
G REM2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,141,015...76,149,162
Ensembl chr 7:76,143,726...76,150,147 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251 		JBrowse link
G RNASE1 ribonuclease A family member 1, pancreatic ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,199,007...78,214,832
Ensembl chr 7:78,213,005...78,214,821 		JBrowse link
G RNASE13 ribonuclease A family member 13 (inactive) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,096,249...78,107,768 JBrowse link
G RNASE4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,244,284...78,244,931
Ensembl chr 7:78,243,691...78,244,930 		JBrowse link
G RNASE6 ribonuclease A family member k6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,220,131...78,221,665
Ensembl chr 7:78,220,131...78,221,665 		JBrowse link
G RNF212B ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,798,895...75,831,455
Ensembl chr 7:75,796,882...75,829,620 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,813,964...77,903,973
Ensembl chr 7:77,813,775...77,903,928 		JBrowse link
G RPL10L ribosomal protein L10 like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:176,603,177...176,604,116
Ensembl chr 1:176,603,248...176,603,892 		JBrowse link
G RPL36AL ribosomal protein L36a like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,476,638...179,477,820
Ensembl chr 1:179,476,640...179,479,147 		JBrowse link
G RPS29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,454,923...179,456,847
Ensembl chr 1:179,454,928...179,461,631 		JBrowse link
G SALL2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,552,357...77,653,380
Ensembl chr 7:77,638,848...77,653,376 		JBrowse link
G SCFD1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,694,579...68,851,055
Ensembl chr 7:68,712,773...68,851,008 		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 chr 7:74,851,049...74,855,740
Ensembl chr 7:74,851,202...74,858,921 		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 chr 7:61,113,760...61,184,218
Ensembl chr 7:61,113,802...61,193,258 		JBrowse link
G SLC22A17 solute carrier family 22 member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,734,724...75,741,115
Ensembl chr 7:75,734,871...75,741,112 		JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,810,937...63,325,625 		JBrowse link
G SLC39A2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,127,628...78,132,900
Ensembl chr 7:78,129,237...78,131,819 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,195,774...76,235,406
Ensembl chr 7:76,198,256...76,235,402 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,854,700...75,921,931
Ensembl chr 7:75,854,882...75,921,931 		JBrowse link
G SNX6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:65,156,476...65,205,249
Ensembl chr 7:65,156,478...65,205,239 		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 chr 1:179,907,578...180,014,941
Ensembl chr 1:179,907,590...180,015,220 		JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:65,302,887...65,325,877
Ensembl chr 7:65,302,858...65,326,728 		JBrowse link
G SRP54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,829,625...64,877,574
Ensembl chr 7:64,829,228...64,877,195 		JBrowse link
G SSTR1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:61,890,560...61,900,567
Ensembl chr 7:61,890,563...61,894,978 		JBrowse link
G STRN3 striatin 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,470,761...68,577,272
Ensembl chr 7:68,470,877...68,577,273 		JBrowse link
G STXBP6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,294,859...74,551,370
Ensembl chr 7:74,294,948...74,552,433 		JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,780,968...77,814,519
Ensembl chr 7:77,781,316...77,814,505 		JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,029,923...75,047,300 		JBrowse link
G THTPA thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,548,430...75,553,721
Ensembl chr 7:75,545,973...75,552,904 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979 		JBrowse link
G TMEM253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,991,665...78,033,146
Ensembl chr 7:78,030,446...78,032,537 		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 chr 1:175,198,172...175,274,309
Ensembl chr 1:175,198,385...175,275,159 		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 chr 7:77,679,405...77,698,952
Ensembl chr 7:77,678,475...77,698,917 		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 chr 7:78,106,126...78,108,570
Ensembl chr 7:78,105,215...78,110,405 		JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:169,710,948...169,722,782
Ensembl chr 1:169,709,558...169,722,735 		JBrowse link
G TSSK4 testis specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,094,921...75,104,189
Ensembl chr 7:75,094,926...75,106,331 		JBrowse link
G TTC6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:62,228,528...62,444,503
Ensembl chr 7:62,228,058...62,454,627 		JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,899,642...179,907,439
Ensembl chr 1:179,899,646...179,906,967 		JBrowse link
G ZFHX2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,554,876...75,586,782
Ensembl chr 7:75,552,618...75,586,132 		JBrowse link
G ZNF219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,028,560...78,043,491
Ensembl chr 7:78,035,228...78,043,464 		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 ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation OMIM
ClinVar		 PMID:25741868 PMID:27123486 PMID:28492532 NCBI chr 4:117,616,596...117,623,752
Ensembl chr 4:117,618,733...117,619,884 		JBrowse link
choreaacanthocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Chorea-acanthocytosis ClinVar PMID:15918062 NCBI chr 1:230,341,947...230,545,123
Ensembl chr 1:230,341,942...230,546,120 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Chorea-acanthocytosis ClinVar PMID:10888887 PMID:10942435 PMID:11532986 PMID:16199547 PMID:19448635 More... NCBI chr 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Chorea-acanthocytosis | ClinVar Annotator: match by term: VPS13A-related condition OMIM
ClinVar		 PMID:9536098 PMID:11381253 PMID:11381254 PMID:12404112 PMID:14663054 More... NCBI chr 1:230,069,339...230,331,343
Ensembl chr 1:230,069,368...230,331,200 		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:10046047 RGD:10047058 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,970...34,015,474 		JBrowse link
G ACHE acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 3:8,732,451...8,738,274
Ensembl chr 3:8,732,441...8,738,605 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G APOA4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206 		JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chr15:80,984,969...81,076,573
Ensembl chr15:80,985,126...81,081,014 		JBrowse link
G ATF5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chr 6:54,945,067...54,950,142
Ensembl chr 6:54,945,119...54,950,137 		JBrowse link
G ATRX ATRX chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		JBrowse link
G BAG1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chr10:33,227,530...33,240,731
Ensembl chr10:33,227,338...33,240,724 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:11299004 PMID:18938217 RGD:10054041 RGD:10054048 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140 		JBrowse link
G BCHE butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr13:104,946,732...105,007,568 JBrowse link
G BCL2 BCL2 apoptosis regulator ISO RGD PMID:11299004 RGD:10054041 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO mRNA, protein:decreased expression:cerebral cortex RGD PMID:17885687 PMID:18093249 PMID:19499586 RGD:10058981 RGD:10059353 RGD:10415531 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765 		JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:10888929 PMID:15668790 RGD:10413886 RGD:13432082 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213 		JBrowse link
G CASP8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468 		JBrowse link
G CASP9 caspase 9 severity ISO protein:increased expression:striatum:
protein:increased expression:caudate nucleus:		 RGD PMID:12095160 RGD:13432083 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007 		JBrowse link
G CAT catalase ISO protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha treatment ISO protein:altered localization:liver (mouse) RGD PMID:17213233 PMID:21651979 RGD:10401191 RGD:6484269 NCBI chr 6:43,083,200...43,085,884
Ensembl chr 6:43,083,207...43,085,836 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305 		JBrowse link
G CFP complement factor properdin ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:42,157,980...42,174,964
Ensembl chr  X:42,157,988...42,174,951 		JBrowse link
G CHAT choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chr14:90,117,464...90,167,611
Ensembl chr14:90,117,464...90,167,611 		JBrowse link
G CIB1 calcium and integrin binding 1 ISO mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chr 7:55,794,834...55,798,666
Ensembl chr 7:55,794,836...55,798,590 		JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,467,835...56,492,602 		JBrowse link
G CNR2 cannabinoid receptor 2 ISO RGD PMID:19115380 RGD:2316196 NCBI chr 6:81,659,162...81,692,550
Ensembl chr 6:81,659,169...81,692,550 		JBrowse link
G CNTF ciliary neurotrophic factor treatment ISO human gene in a cynomolgus monkey model RGD PMID:9121555 PMID:12040055 RGD:628474 RGD:734795 NCBI chr 2:12,492,777...12,495,401
Ensembl chr 2:12,493,169...12,496,159 		JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO protein:decreased phosphorylation:neuron: RGD PMID:11967539 PMID:16420411 RGD:10059577 RGD:734817 NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,705,496...110,771,728 		JBrowse link
G CREBBP CREB binding protein treatment
disease_progression		 ISO protein:altered localization:nucleus RGD PMID:11264541 PMID:19291221 PMID:20448484 RGD:10059583 RGD:13432093 RGD:13432094 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224 		JBrowse link
G CTSH cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chr 7:48,084,882...48,106,072
Ensembl chr 7:48,083,572...48,106,072 		JBrowse link
G CYCS cytochrome c, somatic severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chr18:47,169,921...47,172,212
Ensembl chr18:47,169,866...47,173,866 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr14:30,498,885...30,519,846
Ensembl chr14:30,498,900...30,520,070 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO protein:decreased expression:cerebral cortex, synapse
protein:decreased expression:prefrontal cortex 		RGD PMID:24728190 PMID:25568121 RGD:13432154 RGD:13432155 NCBI chr12:52,550,138...52,574,021
Ensembl chr12:52,550,141...52,575,143 		JBrowse link
G DNAH6 dynein axonemal heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 3:59,859,858...60,114,274
Ensembl chr 3:59,859,863...60,114,365 		JBrowse link
G DRD1 dopamine receptor D1 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 PMID:18815258 RGD:2302117 RGD:5686414 RGD:7248682 NCBI chr16:49,189,555...49,193,722
Ensembl chr16:49,189,602...49,191,976 		JBrowse link
G DRD2 dopamine receptor D2 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 RGD:5686414 RGD:7248682 NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599 		JBrowse link
G DRD3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chr13:145,769,294...145,817,997
Ensembl chr13:145,771,774...145,819,168 		JBrowse link
G DRD5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chr 8:6,180,221...6,182,575
Ensembl chr 8:6,180,221...6,181,636 		JBrowse link
G DUSP1 dual specificity phosphatase 1 treatment ISO RGD PMID:23392662 RGD:7771544 NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086 		JBrowse link
G E2F1 E2F transcription factor 1 ISO protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883 		JBrowse link
G EGFR epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO RGD PMID:11468270 PMID:15567511 RGD:10395345 RGD:10395348 NCBI chr 3:103,041,029...103,096,741
Ensembl chr 3:103,041,221...103,096,738 		JBrowse link
G EP300 E1A binding protein p300 ISO RGD PMID:12586550 RGD:13432192 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137 		JBrowse link
G FAAH fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 6:165,060,279...165,079,340
Ensembl chr 6:165,060,285...165,079,767 		JBrowse link
G FAS Fas cell surface death receptor ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FASLG Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G FOXP1 forkhead box P1 ISO mRNA:decreased expression:striatum (mouse)
mRNA:decreased expression:caudate nucleus (human)		 RGD PMID:16405510 RGD:11560524 NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536 		JBrowse link
G GIT1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chr12:45,768,172...45,783,652
Ensembl chr12:45,768,176...45,783,658 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
G GLUL glutamate-ammonia ligase ISO RGD PMID:3159462 PMID:6237280 RGD:10046047 RGD:13524508 NCBI chr 9:123,751,551...123,762,575
Ensembl chr 9:123,751,548...123,762,547 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433 		JBrowse link
G GPX6 glutathione peroxidase 6 ISO RGD PMID:18588971 RGD:13432193 NCBI chr 7:22,256,013...22,267,992
Ensembl chr 7:22,256,038...22,267,992 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chr 1:68,052,086...68,680,448
Ensembl chr 1:68,057,538...68,679,256 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A onset ISO DNA:SNPs: :rs8057394, rs2650427 (human)
DNA:SNPs: :rs1969060 (human)		 RGD PMID:15742215 PMID:17409241 PMID:17569088 RGD:13432195 RGD:13432554 RGD:13432556 NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,750,700...33,143,499 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B onset ISO DNA:SNP: :2664C>T (rs1806201) (human)
DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human)		 RGD PMID:15742215 PMID:17409241 PMID:17569088 RGD:13432195 RGD:13432554 RGD:13432556 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558 		JBrowse link
G GRM5 glutamate metabotropic receptor 5 disease_progression
treatment		 ISO RGD PMID:15306259 PMID:23489026 PMID:24282028 PMID:25160573 RGD:13432158 RGD:13432558 RGD:13432561 RGD:13432562 NCBI chr 9:21,914,422...22,438,200
Ensembl chr 9:21,917,735...22,436,063 		JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:11490092 RGD:10401927 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO RGD PMID:2527078 RGD:13524507 NCBI chr 3:97,580,756...97,595,033
Ensembl chr 3:97,580,851...97,595,021 		JBrowse link
G HAP1 huntingtin associated protein 1 no_association
onset		 ISO DNA:SNP: :rs4523977 (human)
DNA:SNP: :p.T441M (human)
DNA:SNP:multiple		 RGD PMID:18192679 PMID:20512606 PMID:22402331 PMID:22698993 PMID:24324398 More... RGD:10401859 RGD:13432575 RGD:13432576 RGD:13432577 RGD:13432578 RGD:13432579 NCBI chr12:20,938,463...20,950,053
Ensembl chr12:20,939,554...20,950,051 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex		 RGD PMID:22918830 PMID:22965876 RGD:10402189 RGD:9590098 NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411 		JBrowse link
G HDAC3 histone deacetylase 3 ISO mRNA:increased expression:cerebral cortex
protein:increased expression:striatum:		 RGD PMID:22918830 PMID:22965876 RGD:10402189 RGD:9590098 NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,192...143,287,399 		JBrowse link
G HDAC7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chr 5:78,150,554...78,186,051
Ensembl chr 5:78,150,561...78,186,072 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957 		JBrowse link
G HNMT histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chr15:13,733,412...13,768,106
Ensembl chr15:13,732,680...13,768,199 		JBrowse link
G HPCA hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chr 6:89,187,544...89,197,049
Ensembl chr 6:89,188,133...89,197,045 		JBrowse link
G HSF1 heat shock transcription factor 1 treatment ISO human gene in a mouse model
protein:decreased expression:liver (mouse)		 RGD PMID:16051598 PMID:19443488 PMID:24381308 RGD:10402372 RGD:10402386 RGD:10402387 NCBI chr 4:463,531...486,483
Ensembl chr 4:463,393...486,473 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chr 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chr 3:68,516,666...68,520,025
Ensembl chr 3:68,516,500...68,519,886 		JBrowse link
G HTT huntingtin treatment
onset		 ISO ClinVar Annotator: match by term: Huntington disease
DNA:repeats:cds:CAG (human)		 OMIM
ClinVar
RGD		 PMID:8242074 PMID:17940007 PMID:25741868 PMID:25741909 PMID:28492532 RGD:10403026 RGD:10403029 NCBI chr 8:1,809,768...1,934,002
Ensembl chr 8:1,809,785...1,934,024 		JBrowse link
G IFT57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr13:151,298,552...151,356,715
Ensembl chr13:151,298,554...151,357,155 		JBrowse link
G IFT88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613 		JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO human protein in a rat model RGD PMID:15371744 PMID:23384443 PMID:25140802 RGD:10045865 RGD:10045870 RGD:12904970 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058 		JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G IL6R interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282 		JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chr13:31,379,516...31,406,989
Ensembl chr13:31,379,521...31,406,911 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO protein:decreased activity:cerebellum, striatum (mouse)
protein:decreased expression:neostriatum (rat)		 RGD PMID:9761455 PMID:19193873 PMID:21145001 RGD:6480685 RGD:6480875 RGD:6483009 NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912 		JBrowse link
G KDM5C lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chr  X:45,968,812...46,003,215
Ensembl chr  X:45,968,814...46,003,215 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LEP leptin ISO protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323 		JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:38,930,452...39,006,220 JBrowse link
G MAOB monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:39,025,973...39,144,389
Ensembl chr  X:39,025,970...39,144,345 		JBrowse link
G MAP2 microtubule associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chr15:112,156,578...112,462,932
Ensembl chr15:112,236,119...112,462,929 		JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 treatment
onset		 ISO DNa:SNO:promoter:rs5880308(human)
protein:increased expression:cortex,striatum,nucleus:		 RGD PMID:18327563 PMID:19646509 RGD:10412311 RGD:10412314 NCBI chr 1:27,380,143...27,600,500
Ensembl chr 1:27,380,142...27,600,493 		JBrowse link
G MBP myelin basic protein ISO protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290 		JBrowse link
G MIR132 microRNA mir-132 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr12:48,162,625...48,162,702
Ensembl chr12:48,162,614...48,162,714 		JBrowse link
G MIR222 microRNA mir-222 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:40,571,808...40,571,887
Ensembl chr  X:40,571,808...40,571,887 		JBrowse link
G MIR29C microRNA mir-29c ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr 9:135,019,638...135,019,725
Ensembl chr 9:135,019,638...135,019,725 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MSH2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II severity ISO RGD PMID:20660112 RGD:13506651 NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO RGD PMID:20480544 RGD:5687693 NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998 		JBrowse link
G MTNR1A melatonin receptor 1A treatment ISO mRNA:decreased expression:brain RGD PMID:21994366 RGD:9686058 NCBI chr17:8,597,047...8,618,746
Ensembl chr17:8,596,911...8,617,657 		JBrowse link
G NAPEPLD N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chr 9:103,210,655...103,309,018
Ensembl chr 9:103,210,748...103,262,910 		JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chr12:59,256,868...59,392,564
Ensembl chr12:59,273,100...59,392,562 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,638...118,506,691 		JBrowse link
G NGFR nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356 		JBrowse link
G NOG noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA:increased expression:striatum (rat) RGD PMID:17850874 RGD:2292130 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G NPY neuropeptide Y no_association
onset		 ISO DNA:SNP: :rs16147 (human)
mRNA:decreased expression:hypothalamus
DNA:SNP: :rs3037354 (human)		 RGD PMID:1710657 PMID:23697793 PMID:24121255 RGD:10431606 RGD:10433112 RGD:10433553 NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667 		JBrowse link
G NPY2R neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chr 8:74,039,959...74,048,398
Ensembl chr 8:74,039,616...74,047,817 		JBrowse link
G NRF1 nuclear respiratory factor 1 onset ISO mRNA:decreased expression:striatum
DNA:SNPs: :rs6949152, rs7781972 (human)		 RGD PMID:20529956 PMID:21595933 RGD:6770890 RGD:6771173 NCBI chr18:19,008,408...19,142,678
Ensembl chr18:18,998,930...19,142,628 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chr13:66,038,669...66,045,478 JBrowse link
G OPTN optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196 		JBrowse link
G PCP4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chr13:203,412,479...203,479,216
Ensembl chr13:203,412,479...203,479,209 		JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:25315303 RGD:243048432 NCBI chr13:205,938,342...206,034,981
Ensembl chr13:205,938,348...206,034,976 		JBrowse link
G PLCB3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chr 2:7,844,931...7,860,183
Ensembl chr 2:7,843,340...7,860,193 		JBrowse link
G POLR2A RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chr12:52,779,833...52,806,210
Ensembl chr12:52,779,828...52,807,598 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha onset
severity
no_association
treatment		 ISO DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
protein:increased expression:brain (human)
protein:increased expression:subthalamic nucleus (rat)
mRNA:decreased expression:medium spiny neuron (mouse)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
mRNA:decreased expression:caudate nucleus (human)
DNA:snps, haplotypes:multiple (human)
DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)		 RGD PMID:17018277 PMID:19133136 PMID:20736066 PMID:21211002 PMID:21493629 More... RGD:10053648 RGD:10053650 RGD:10053656 RGD:10053663 RGD:10395289 RGD:10395290 RGD:10395291 RGD:6484259 RGD:6484269 RGD:6770890 RGD:7242018 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		JBrowse link
G PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B ISO RGD PMID:18502785 RGD:13515080 NCBI chr12:22,681,244...22,690,978
Ensembl chr12:22,680,980...22,690,952 		JBrowse link
G PPP1R9A protein phosphatase 1 regulatory subunit 9A ISO mRNA:decreased expression:striatum(mouse)
mRNA:decreased expression:caudate nucleus		 RGD PMID:20089533 RGD:10043799 NCBI chr 9:74,635,285...74,944,050
Ensembl chr 9:74,635,403...74,940,362 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,779...119,753,105 		JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO protein:altered localization:nucleus
protein:increased phosphorylation, altered localization:nucleus		 RGD PMID:21768291 RGD:6484534 NCBI chr16:25,745,902...25,783,524
Ensembl chr16:25,745,324...25,783,707 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,062,367...25,077,523 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21362433 RGD:5508227 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO RGD PMID:2527078 RGD:13524507 NCBI chr 3:17,987,223...18,001,712
Ensembl chr 3:17,987,242...18,001,711 		JBrowse link
G RCAN1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chr13:198,106,256...198,205,727
Ensembl chr13:198,102,098...198,205,629 		JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 ISO protein:increased expression:neocortex, caudate nucleus (human) RGD PMID:17142323 RGD:9590159 NCBI chr 4:98,259,801...98,293,238
Ensembl chr 4:98,260,375...98,293,097 		JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chr 7:58,171,821...58,246,126
Ensembl chr 7:58,176,167...58,245,971 		JBrowse link
G SIRT1 sirtuin 1 ISO human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)
protein:decreased expression:frontal cortex		 RGD PMID:9949199 PMID:18538940 PMID:22179316 RGD:10395240 RGD:9585998 RGD:9586004 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 ISO mRNA, protein:decreased expression:brain, spinal cord
mRNA, protein:decreased expression:striatum		 RGD PMID:16987871 RGD:5686805 NCBI chr14:90,113,534...90,115,813
Ensembl chr14:90,113,844...90,115,430 		JBrowse link
G SLC1A2 solute carrier family 1 member 2 ISO RGD PMID:9100675 PMID:17409241 RGD:13432194 RGD:13432195 NCBI chr 2:25,603,892...25,771,840
Ensembl chr 2:25,604,950...25,848,276 		JBrowse link
G SLC29A1 solute carrier family 29 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chr 7:39,217,974...39,234,683
Ensembl chr 7:39,218,051...39,234,685 		JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chr17:46,119,612...46,122,540
Ensembl chr17:46,119,409...46,125,126 		JBrowse link
G SYNE3 spectrin repeat containing nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 7:116,666,238...116,770,305
Ensembl chr 7:116,665,435...116,770,302 		JBrowse link
G TBP TATA-box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chr 1:5,669...23,675 JBrowse link
G TFAM transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:20529956 PMID:21595933 RGD:6770890 RGD:6771173 NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834 		JBrowse link
G TRIP10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chr 2:72,406,500...72,416,146
Ensembl chr 2:72,406,505...72,416,138 		JBrowse link
G UCP1 uncoupling protein 1 treatment ISO mRNA, protein:decreased expression:brown adipose tissue (mouse) RGD PMID:17055784 PMID:20561979 RGD:10045649 RGD:10045650 NCBI chr 8:86,522,028...86,526,162 JBrowse link
G UCP2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547 		JBrowse link
G XPO5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chr 7:38,530,704...38,569,558
Ensembl chr 7:38,531,919...38,569,582 		JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISO OMIM:143100 MouseDO NCBI chr 2:40,251,511...40,310,455
Ensembl chr 2:40,251,246...40,310,455 		JBrowse link
G ZDHHC17 zinc finger DHHC-type palmitoyltransferase 17 ISO OMIM:143100 MouseDO NCBI chr 5:104,300,869...104,394,255
Ensembl chr 5:104,300,876...104,394,260 		JBrowse link
Huntington's disease-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM33 ADAM metallopeptidase domain 33 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,023,102...32,038,464
Ensembl chr17:32,023,091...32,037,880 		JBrowse link
G ADISSP adipose secreted signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:31,943,018...31,956,754
Ensembl chr17:31,950,169...31,956,750 		JBrowse link
G ADRA1D adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:31,517,021...31,537,361
Ensembl chr17:31,517,021...31,538,362 		JBrowse link
G AP5S1 adaptor related protein complex 5 subunit sigma 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:31,896,117...31,906,833
Ensembl chr17:31,894,391...31,902,166 		JBrowse link
G ATRN attractin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,054,240...32,239,576
Ensembl chr17:32,054,249...32,239,519 		JBrowse link
G AVP vasopressin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,581,234...32,583,145
Ensembl chr17:32,581,234...32,583,185 		JBrowse link
G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:15,750,487...15,762,982
Ensembl chr17:15,749,835...15,761,195 		JBrowse link
G C17H20orf141 chromosome 17 C20orf141 homolog ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,839,309...32,840,114
Ensembl chr17:32,838,771...32,840,154 		JBrowse link
G CDC25B cell division cycle 25B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:31,910,824...31,929,418
Ensembl chr17:31,910,825...31,929,242 		JBrowse link
G CDS2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:14,151,810...14,220,841
Ensembl chr17:14,151,597...14,220,839 		JBrowse link
G CENPB centromere protein B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:31,929,846...31,932,539
Ensembl chr17:31,929,892...31,931,712 		JBrowse link
G CHGB chromogranin B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:14,747,282...14,761,995
Ensembl chr17:14,746,997...14,761,995 		JBrowse link
G CPXM1 carboxypeptidase X, M14 family member 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,845,154...32,852,065
Ensembl chr17:32,845,232...32,852,062 		JBrowse link
G CRLS1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:14,860,319...14,892,436
Ensembl chr17:14,860,320...14,892,434 		JBrowse link
G DDRGK1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,479,981...32,491,401
Ensembl chr17:32,479,977...32,491,396 		JBrowse link
G DNAAF9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,284,747...32,437,843
Ensembl chr17:32,284,752...32,437,839 		JBrowse link
G EBF4 EBF family member 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,874,807...32,944,623
Ensembl chr17:32,876,089...32,944,678 		JBrowse link
G FASTKD5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,520,625...32,532,786
Ensembl chr17:32,520,654...32,533,813 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:15,080,585...15,137,947
Ensembl chr17:15,080,587...15,137,753 		JBrowse link
G GFRA4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,040,183...32,044,396
Ensembl chr17:32,040,235...32,046,105 		JBrowse link
G GNRH2 gonadotropin releasing hormone 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,631,428...32,635,257 JBrowse link
G GPCPD1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:14,420,656...14,476,223
Ensembl chr17:14,420,658...14,476,212 		JBrowse link
G HSPA12B heat shock protein family A (Hsp70) member 12B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:31,954,481...31,980,267
Ensembl chr17:31,953,137...31,977,754 		JBrowse link
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,955,061...32,960,110
Ensembl chr17:32,955,101...32,960,104 		JBrowse link
G ITPA inosine triphosphatase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784 		JBrowse link
G LRRN4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:14,895,954...14,908,112 JBrowse link
G LZTS3 leucine zipper tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,507,512...32,518,524
Ensembl chr17:32,508,706...32,518,522 		JBrowse link
G MAVS mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:31,850,646...31,869,273
Ensembl chr17:31,850,900...31,869,188 		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 chr17:14,790,398...14,837,420
Ensembl chr17:14,790,396...14,837,416 		JBrowse link
G MIR103-2 microRNA mir-103-2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:31,808,837...31,808,916
Ensembl chr17:31,808,836...31,808,920 		JBrowse link
G MRPS26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,629,281...32,631,434
Ensembl chr17:32,629,284...32,631,430 		JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,960,099...32,965,396
Ensembl chr17:32,960,102...32,965,370 		JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,605,586...32,606,449
Ensembl chr17:32,605,586...32,606,546 		JBrowse link
G PANK2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:31,797,604...31,844,301
Ensembl chr17:31,798,785...31,828,496 		JBrowse link
G PCED1A PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,825,984...32,831,045
Ensembl chr17:32,825,998...32,831,041 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744 		JBrowse link
G PDYN prodynorphin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:33,505,075...33,521,534
Ensembl chr17:33,505,079...33,521,532 		JBrowse link
G PRND prion like protein doppel ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:13,729,715...13,735,485
Ensembl chr17:13,729,731...13,735,483 		JBrowse link
G PRNP prion protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES OMIM
ClinVar		 PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 More... NCBI chr17:13,694,195...13,705,126
Ensembl chr17:13,694,190...13,705,124 		JBrowse link
G PROKR2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307 		JBrowse link
G PTPRA protein tyrosine phosphatase receptor type A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,638,494...32,797,110
Ensembl chr17:32,637,932...32,797,104 		JBrowse link
G RASSF2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:13,773,289...13,822,729
Ensembl chr17:13,773,292...13,822,206 		JBrowse link
G RNF24 ring finger protein 24 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:31,705,355...31,799,490
Ensembl chr17:31,705,434...31,794,885 		JBrowse link
G SHLD1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:14,610,723...14,706,082
Ensembl chr17:14,610,817...14,707,872 		JBrowse link
G SIGLEC1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:31,994,505...32,021,239
Ensembl chr17:31,994,632...32,021,239 		JBrowse link
G SLC23A2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:13,848,726...14,012,054
Ensembl chr17:13,848,728...14,011,700 		JBrowse link
G SLC4A11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,445,360...32,458,246
Ensembl chr17:32,446,831...32,458,245 		JBrowse link
G SMOX spermine oxidase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:31,552,927...31,592,007
Ensembl chr17:31,548,636...31,591,975 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:33,072,104...33,094,847
Ensembl chr17:33,080,407...33,094,602 		JBrowse link
G SPEF1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:31,934,856...31,938,463
Ensembl chr17:31,934,856...31,938,463 		JBrowse link
G STK35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:33,332,725...33,413,328
Ensembl chr17:33,367,349...33,412,281 		JBrowse link
G TGM3 transglutaminase 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:33,191,901...33,236,065
Ensembl chr17:33,191,914...33,235,952 		JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:33,106,974...33,142,548
Ensembl chr17:33,107,568...33,156,324 		JBrowse link
G TMC2 transmembrane channel like 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,977,890...33,047,982
Ensembl chr17:32,977,723...33,048,181 		JBrowse link
G TMEM230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:14,125,728...14,136,443
Ensembl chr17:14,125,730...14,136,387 		JBrowse link
G TMEM239 transmembrane protein 239 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,838,160...32,839,089
Ensembl chr17:32,838,160...32,838,618 		JBrowse link
G TRMT6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:14,777,683...14,790,318
Ensembl chr17:14,777,683...14,965,130 		JBrowse link
G UBOX5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,520,612...32,561,534
Ensembl chr17:32,546,712...32,561,533 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr17:32,803,596...32,825,974
Ensembl chr17:32,803,412...32,825,933 		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 ClinVar Annotator: match by term: Huntington disease-like 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:1,677,132...1,767,010 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 antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome OMIM
ClinVar		 PMID:8004674 PMID:8619554 PMID:10426139 PMID:11261514 PMID:11703337 More... NCBI chr  X:33,544,287...33,602,576
Ensembl chr  X:33,544,731...33,602,574 		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 chr12:14,612,177...14,637,946
Ensembl chr12:14,612,183...14,636,811 		JBrowse link
G POLG2 DNA polymerase 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 chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,570 		JBrowse link
neuroacanthocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS13A vacuolar protein sorting 13 homolog A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:230,069,339...230,331,343
Ensembl chr 1:230,069,368...230,331,200 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:8619554 PMID:11761473 NCBI chr  X:33,544,287...33,602,576
Ensembl chr  X:33,544,731...33,602,574 		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 cell protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,339,765...120,345,451
Ensembl chr15:120,339,768...120,346,197 		JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,265,693...121,273,813
Ensembl chr15:121,266,127...121,273,812 		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 chr15:120,297,122...120,328,795
Ensembl chr15:120,297,025...120,328,542 		JBrowse link
G ASIC4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,520,003...121,547,520
Ensembl chr15:121,522,550...121,547,497 		JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,254,355...121,265,564
Ensembl chr15:121,254,355...121,265,569 		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 chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,419,473...120,425,441
Ensembl chr15:120,419,473...120,425,439 		JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,985,069...120,990,864
Ensembl chr15:120,985,257...120,986,354 		JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,026,365...121,067,224
Ensembl chr15:121,026,245...121,062,738 		JBrowse link
G CHPF chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,547,666...121,553,590
Ensembl chr15:121,544,230...121,553,288 		JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,590,354...120,622,203
Ensembl chr15:120,590,641...120,623,898 		JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,207,139...121,212,888
Ensembl chr15:121,207,142...121,212,766 		JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,013,611...121,016,869
Ensembl chr15:121,013,626...121,020,454 		JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,450,649...120,456,874
Ensembl chr15:120,450,760...120,456,871 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,219,657...120,230,203 JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,192 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		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 chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991 		JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,391,746...121,404,138
Ensembl chr15:121,391,746...121,412,864 		JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,005,279...121,008,748
Ensembl chr15:121,004,665...121,009,014 		JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,271,844...121,285,091
Ensembl chr15:121,271,848...121,285,091 		JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,507,560...121,515,299
Ensembl chr15:121,507,564...121,515,300 		JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,336,196...120,339,506
Ensembl chr15:120,336,488...120,339,505 		JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,083,750...121,090,548
Ensembl chr15:121,083,753...121,090,121 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,100,624...121,190,086
Ensembl chr15:121,100,628...121,190,062 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,560,009...121,581,314
Ensembl chr15:121,560,008...121,581,188 		JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,660,549...120,695,731
Ensembl chr15:120,626,938...120,688,112 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 OMIM
ClinVar		 PMID:8659518 PMID:9490305 PMID:9536098 PMID:15262732 PMID:15496428 More... NCBI chr15:120,345,541...120,411,648
Ensembl chr15:120,387,113...120,410,476 		JBrowse link
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,859,486...120,866,308
Ensembl chr15:120,855,201...120,866,332 		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 3:18,048,614...18,052,481
Ensembl chr 3:18,048,618...18,052,480 		JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,329,284...121,349,228
Ensembl chr15:121,329,287...121,349,168 		JBrowse link
G RESP18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,364,165...121,371,430 JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,212,370...121,218,796
Ensembl chr15:121,212,881...121,218,812 		JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,712,242...120,719,773
Ensembl chr15:120,712,246...120,719,773 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,105,800...121,203,990
Ensembl chr15:121,195,246...121,203,985 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,443,976...121,501,453 JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,285,065...121,288,475
Ensembl chr15:121,284,920...121,288,473 		JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,719,635...120,747,832
Ensembl chr15:120,719,646...120,754,065 		JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,348,740...120,365,055
Ensembl chr15:120,348,735...120,365,007 		JBrowse link
G TMEM198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,553,686...121,559,860
Ensembl chr15:121,553,694...121,559,869 		JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,748,537...120,791,825
Ensembl chr15:120,773,185...120,793,194 		JBrowse link
G TUBA4A tubulin alpha 4a ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,290,149...121,294,048
Ensembl chr15:121,288,957...121,294,853 		JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,492,552...120,590,230
Ensembl chr15:120,493,739...120,590,216 		JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,463,470...120,494,772
Ensembl chr15:120,463,566...120,492,580 		JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430 		JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,901,471...120,917,359
Ensembl chr15:120,901,376...120,917,486 		JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:121,243,116...121,246,075
Ensembl chr15:121,243,116...121,246,068 		JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia ClinVar PMID:28492532 NCBI chr15:120,688,836...120,707,743 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 chr14:80,249,693...80,377,496
Ensembl chr14:80,249,697...80,377,064 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:25741868 PMID:34305802 NCBI chr 5:65,556,837...65,565,880
Ensembl chr 5:65,561,962...65,565,116 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 susceptibility ISO ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar
OMIM		 PMID:9536098 PMID:15937479 PMID:16199547 PMID:16946189 PMID:17576681 More... NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,005...80,106,295 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          Dyskinesias 2091
            choreatic disease 445
              3-methylglutaconic aciduria type 3 2
              Benign Familial Chorea 1
              Brain-Lung-Thyroid Syndrome 172
              Childhood-Onset Chorea with Psychomotor Retardation 1
              Choreoathetosis, Familial Inverted 0
              Huntington's disease + 200
              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 50
              paroxysmal nonkinesigenic dyskinesia 2 0
              paroxysmal nonkinesigenic dyskinesia 3 3
Path 2
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  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          brain disease 10899
            movement disease 2451
              Dyskinesias 2091
                choreatic disease 445
                  3-methylglutaconic aciduria type 3 2
                  Benign Familial Chorea 1
                  Brain-Lung-Thyroid Syndrome 172
                  Childhood-Onset Chorea with Psychomotor Retardation 1
                  Choreoathetosis, Familial Inverted 0
                  Huntington's disease + 200
                  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 50
                  paroxysmal nonkinesigenic dyskinesia 2 0
                  paroxysmal nonkinesigenic dyskinesia 3 3
paths to the root