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
Accession: DOID:12859
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: MIM:118700 ; OMIA:002084
xref: EFO:0004152 ; ORDO:1429
For additional species annotation, visit the
Alliance of Genome Resources .
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Cacna2d2
calcium channel, voltage-dependent, alpha 2/delta subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14660671
NCBI chr 9:107,276,948...107,406,545
Ensembl chr 9:107,276,811...107,406,542
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Dnmt1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:25741868
NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184
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Ebf3
early B cell factor 3
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chr 7:136,795,400...136,924,528
Ensembl chr 7:136,795,402...136,916,174
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Frrs1l
ferric-chelate reductase 1 like
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:23056405 PMID:25741868 PMID:27236917 PMID:28492532 PMID:32928027
NCBI chr 4:56,957,173...56,990,408
Ensembl chr 4:56,957,173...56,990,391
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Glrx3
glutaredoxin 3
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chr 7:137,039,302...137,071,360
Ensembl chr 7:137,039,343...137,070,323
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Gnao1
guanine nucleotide binding protein, alpha O
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:25741868 PMID:28492532 PMID:28668776 PMID:29389947 PMID:29935962 PMID:30642806 PMID:31130284 PMID:31737037 PMID:31780880 PMID:32581362 More...
NCBI chr 8:94,537,213...94,696,016
Ensembl chr 8:94,536,594...94,696,016
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H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
associated with Rheumatic Fever;DNA:polymorphisms (human)
RGD
PMID:17559688
RGD:5147792
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
associated with Rheumatic Fever;DNA:polymorphism (human)
RGD
PMID:17559688
RGD:5147792
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
associated with Rheumatic Fever;DNA:polymorphism (human)
RGD
PMID:17559688
RGD:5147792
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Kif5a
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217
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Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr12:56,375,091...56,392,681
Ensembl chr12:56,375,088...56,392,679
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
ClinVar Annotator: match by term: Paroxysmal dyskinesia
ClinVar
PMID:32581362
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
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Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr12:57,277,211...57,546,809
Ensembl chr12:57,277,213...57,543,985
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Nkx2-1
NK2 homeobox 1
susceptibility
ISO
DNA:transition: ; 745C>T ClinVar Annotator: match by term: Benign hereditary chorea | ClinVar Annotator: match by term: HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:9536098 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:16220345 PMID:17576681 PMID:19176457 PMID:23379327 PMID:23430038 PMID:24129101 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25741868 PMID:26723978 PMID:28492532 PMID:28503612 PMID:29882472 PMID:30352709 PMID:16220345 More...
RGD:1600157
NCBI chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693
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Nkx2-9
NK2 homeobox 9
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr12:56,658,174...56,660,354
Ensembl chr12:56,658,174...56,660,069
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Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr X:132,483,609...132,589,802
Ensembl chr X:132,483,609...132,589,736
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Pde2a
phosphodiesterase 2A, cGMP-stimulated
ISO
ClinVar Annotator: match by term: Choreatic disease
ClinVar
PMID:25741868 PMID:32467598
NCBI chr 7:101,070,905...101,162,026
Ensembl chr 7:101,060,093...101,162,026 Ensembl chr 7:101,060,093...101,162,026
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Pign
phosphatidylinositol glycan anchor biosynthesis, class N
ISO
Dyskinesia, paroxysmal, PIGN-related
OMIA
PMID:15474685 PMID:27891564 PMID:28703446 PMID:33769611 PMID:36086931 PMID:38003185 PMID:39119350 More...
NCBI chr 1:105,446,147...105,591,466
Ensembl chr 1:105,446,147...105,591,402
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Slc25a21
solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21
ISO
ClinVar Annotator: match by term: Benign hereditary chorea
ClinVar
PMID:11971878
NCBI chr12:56,759,419...57,244,257
Ensembl chr12:56,759,419...57,244,257
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Vps13a
vacuolar protein sorting 13A
ISO
choreoacanthocytosis, OMIM:200150
RGD
PMID:11381253
RGD:1599747
NCBI chr19:16,592,730...16,758,433
Ensembl chr19:16,592,730...16,758,297
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Dnajc19
DnaJ heat shock protein family (Hsp40) member C19
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
ClinVar
PMID:16055927 PMID:27928778 PMID:28492532
NCBI chr 3:34,111,429...34,135,503
Ensembl chr 3:34,110,169...34,135,470
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: Costeff optic atrophy syndrome
ClinVar
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17306754 PMID:18222991 PMID:20157015 PMID:20417570 PMID:20659957 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:25012220 PMID:25641387 PMID:25741868 PMID:26385429 PMID:26467025 PMID:28492532 PMID:28494813 PMID:28812649 PMID:30165240 PMID:31500643 PMID:32025183 PMID:33546218 PMID:33884488 PMID:34242285 PMID:37091313 More...
NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702
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Opa3
optic atrophy 3
ISO IAGP
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome CTD Direct Evidence: marker/mechanism OMIM:258501
OMIM ClinVar CTD MouseDO
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:17576681 PMID:18985435 PMID:20301646 PMID:20350831 PMID:23700088 PMID:24136862 PMID:24749080 PMID:25159689 PMID:25201222 PMID:25205859 PMID:25741868 PMID:26190011 PMID:27528516 PMID:27629047 PMID:28081242 PMID:28492532 PMID:31119193 PMID:31928268 PMID:32855858 PMID:32883240 More...
NCBI chr 7:18,962,314...18,980,742
Ensembl chr 7:18,962,259...18,990,468
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Nkx2-1
NK2 homeobox 1
ISO
DNA:splice-site mutation:intron:c.464-9C>A (human) DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human) DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human)
RGD
PMID:22825795 PMID:11971878 PMID:18788921
RGD:12914772 , RGD:12914773 , RGD:11073166
NCBI chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693
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1700123O20Rik
RIKEN cDNA 1700123O20 gene
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,923,628...54,928,201
Ensembl chr14:54,923,673...54,928,198
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4931414P19Rik
RIKEN cDNA 4931414P19 gene
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,821,119...54,843,450
Ensembl chr14:54,821,120...54,843,450
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Abhd4
abhydrolase domain containing 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,491,586...54,506,626
Ensembl chr14:54,491,645...54,508,094
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Acin1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,879,618...54,924,422
Ensembl chr14:54,879,618...54,924,388
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Adcy4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,006,513...56,021,552
Ensembl chr14:56,006,514...56,021,552
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Ajuba
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,804,926...54,815,118
Ensembl chr14:54,804,929...54,815,015
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Akap6
A kinase anchor protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:52,745,371...53,202,351
Ensembl chr12:52,746,166...53,202,382
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Ang
angiogenin, ribonuclease, RNase A family, 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
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Ap1g2
adaptor protein complex AP-1, gamma 2 subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,336,292...55,344,050
Ensembl chr14:55,336,032...55,344,050
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Ap4s1
adaptor-related protein complex AP-4, sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,708,545...51,785,716
Ensembl chr12:51,737,816...51,791,569
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Arf6
ARF GTPase 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,418,924...69,422,754
Ensembl chr12:69,418,924...69,420,557
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Arhgap5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:52,550,555...52,618,761
Ensembl chr12:52,550,755...52,618,758
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Arhgef40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,222,158...52,243,704
Ensembl chr14:52,222,176...52,243,708
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Baz1a
bromodomain adjacent to zinc finger domain 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:54,939,774...55,061,155
Ensembl chr12:54,940,336...55,061,133
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Bcl2l2
BCL2-like 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,120,900...55,125,691
Ensembl chr14:55,120,834...55,125,691
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Brms1l
breast cancer metastasis-suppressor 1-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,883,109...55,916,521
Ensembl chr12:55,883,109...55,916,521
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Carmil3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,728,108...55,745,729
Ensembl chr14:55,728,108...55,745,729
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Cbln3
cerebellin 3 precursor protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,116,377...56,121,713
Ensembl chr14:56,116,370...56,121,849
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Cdh24
cadherin-like 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,868,688...54,878,853
Ensembl chr14:54,868,688...54,878,821
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Cebpe
CCAAT/enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,947,823...54,949,604
Ensembl chr14:54,947,817...54,949,631
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Cfl2
cofilin 2, muscle
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:54,905,602...54,910,065
Ensembl chr12:54,905,594...54,909,662
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Chd8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,435,608...52,495,499
Ensembl chr14:52,435,608...52,495,237
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Cideb
cell death-inducing DNA fragmentation factor, alpha subunit-like effector B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,991,509...55,995,881
Ensembl chr14:55,991,507...55,995,915
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Clec14a
C-type lectin domain family 14, member a
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:58,311,506...58,316,044
Ensembl chr12:58,311,506...58,316,076
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Cma1
chymase 1, mast cell
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132
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Cmtm5
CKLF-like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,173,927...55,176,734
Ensembl chr14:55,173,718...55,176,731
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Coch
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554
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Cpne6
copine VI
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,747,902...55,754,892
Ensembl chr14:55,747,902...55,754,888
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Ctsg
cathepsin G
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,337,342...56,340,031
Ensembl chr14:56,337,338...56,340,031
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Dad1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,472,942...54,491,386
Ensembl chr14:54,472,936...54,491,561
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Dcaf11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,796,557...55,807,522
Ensembl chr14:55,797,463...55,807,522
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Dhrs1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,976,477...55,983,147
Ensembl chr14:55,976,477...55,983,147
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Dhrs2
dehydrogenase/reductase member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,459,464...55,478,897
Ensembl chr14:55,459,464...55,478,892
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Dhrs4
dehydrogenase/reductase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,715,880...55,727,797
Ensembl chr14:55,716,215...55,727,797
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Dnaaf2
dynein, axonemal assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,235,861...69,245,203
Ensembl chr12:69,235,861...69,245,203
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Dtd2
D-tyrosyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:52,035,089...52,053,290
Ensembl chr12:52,035,095...52,053,284
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Eapp
E2F-associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:54,717,125...54,743,245
Ensembl chr12:54,717,125...54,742,682
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Ear1
eosinophil-associated, ribonuclease A family, member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:44,056,222...44,057,096
Ensembl chr14:44,056,222...44,112,974
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Ear6
eosinophil-associated, ribonuclease A family, member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,091,225...52,092,100
Ensembl chr14:52,091,156...52,092,100
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Eddm3b
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:51,351,886...51,355,248
Ensembl chr14:51,351,883...51,355,264
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Efs
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,154,087...55,164,222
Ensembl chr14:55,153,992...55,163,583
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Egln3
egl-9 family hypoxia-inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:54,225,767...54,250,660
Ensembl chr12:54,225,767...54,250,646
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Emc9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,818,976...55,822,832
Ensembl chr14:55,818,973...55,822,759
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Fam177a
family with sequence similarity 177, member A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,171,313...55,188,889
Ensembl chr12:55,171,254...55,188,889
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Fancm
Fanconi anemia, complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832
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Fbxo33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:59,247,441...59,268,747
Ensembl chr12:59,247,441...59,266,511
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Fitm1
fat storage-inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,813,131...55,814,409
Ensembl chr14:55,813,074...55,814,411
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Fkbp3
FK506 binding protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:65,109,206...65,120,712
Ensembl chr12:65,109,198...65,120,781
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Foxa1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:57,585,750...57,594,815
Ensembl chr12:57,587,414...57,593,702
G
Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644
G
Fscb
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:64,518,107...64,521,672
Ensembl chr12:64,518,104...64,521,464
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G2e3
G2/M-phase specific E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,395,013...51,423,769
Ensembl chr12:51,394,844...51,423,769
G
Gemin2
gem nuclear organelle associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:59,060,177...59,075,256
Ensembl chr12:59,060,179...59,075,256
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Gm527
predicted gene 527
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:64,964,685...64,971,365
Ensembl chr12:64,964,680...64,971,366
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Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,909,692...55,935,602
Ensembl chr14:55,909,398...55,916,657
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Gpr33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:52,069,786...52,074,887
Ensembl chr12:52,069,786...52,074,846
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Gzmb
granzyme B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,496,293...56,499,791
Ensembl chr14:56,496,295...56,499,717
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Gzme
granzyme E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,355,076...56,358,082
Ensembl chr14:56,355,083...56,358,082
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Haus4
HAUS augmin-like complex, subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,779,242...54,792,446
Ensembl chr14:54,779,242...54,792,073
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Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,922,654...52,018,154
Ensembl chr12:51,922,654...52,018,104
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Hectd1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,790,504...51,876,540
Ensembl chr12:51,790,505...51,876,319
G
Hnrnpc
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,310,834...52,341,462
Ensembl chr14:52,310,834...52,341,485
G
Homez
homeodomain leucine zipper-encoding gene
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,090,193...55,109,285
Ensembl chr14:55,090,193...55,108,418
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Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,170,152...55,173,294
Ensembl chr14:55,170,152...55,173,294
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Insm2
insulinoma-associated 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,646,212...55,648,818
Ensembl chr12:55,646,212...55,648,871
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Ipo4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,862,857...55,873,321
Ensembl chr14:55,862,857...55,873,414
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Irf9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,841,442...55,847,487
Ensembl chr14:55,841,028...55,847,487
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Jph4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,344,283...55,354,392
Ensembl chr14:55,344,283...55,354,392
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Khnyn
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,122,269...56,136,237
Ensembl chr14:56,122,404...56,136,232
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Klhdc1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,274,529...69,331,420
Ensembl chr12:69,287,950...69,331,406
G
Klhdc2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,343,455...69,357,461
Ensembl chr12:69,343,455...69,357,461
G
Klhl28
kelch-like 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:64,985,603...65,012,365
Ensembl chr12:64,985,607...65,012,308
G
L2hgdh
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,737,210...69,771,648
Ensembl chr12:69,737,207...69,771,647
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Lrfn5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:61,569,356...61,913,554
Ensembl chr12:61,569,936...61,905,128
G
Lrp10
low-density lipoprotein receptor-related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,701,260...54,707,749
Ensembl chr14:54,701,594...54,708,954
G
Lrr1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,215,588...69,225,786
Ensembl chr12:69,215,588...69,225,783
G
Ltb4r1
leukotriene B4 receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,002,154...56,005,951
Ensembl chr14:56,003,419...56,005,951
G
Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,995,379...56,001,523
Ensembl chr14:55,998,885...56,002,595
G
Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:56,375,091...56,392,681
Ensembl chr12:56,375,088...56,392,679
G
Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:66,512,832...67,269,323
Ensembl chr12:66,512,834...67,269,323
G
Mdp1
magnesium-dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,895,346...55,897,908
Ensembl chr14:55,895,336...55,897,965
G
Mettl17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,122,375...52,129,325
Ensembl chr14:52,122,299...52,130,496
G
Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,532,298...52,548,555
Ensembl chr14:52,532,298...52,542,585
G
Mgat2
mannoside acetylglucosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,230,932...69,233,547
Ensembl chr12:69,230,931...69,233,544
G
Mia2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:59,142,368...59,237,006
Ensembl chr12:59,142,585...59,238,369
G
Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:57,277,211...57,546,809
Ensembl chr12:57,277,213...57,543,985
G
Mir208a
microRNA 208a
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,186,517...55,186,599
Ensembl chr14:55,186,517...55,186,599
G
Mir208b
microRNA 208b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,213,157...55,213,233
Ensembl chr14:55,213,157...55,213,233
G
Mis18bp1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:65,179,508...65,219,363
Ensembl chr12:65,179,508...65,219,378
G
Mmp14
matrix metallopeptidase 14 (membrane-inserted)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
G
Mrpl52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,664,366...54,667,207
Ensembl chr14:54,664,366...54,667,213
G
Myh6
myosin, heavy polypeptide 6, cardiac muscle, alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384
G
Myh7
myosin, heavy polypeptide 7, cardiac muscle, beta
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083
G
Ndrg2
N-myc downstream regulated gene 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,142,738...52,151,463
Ensembl chr14:52,142,728...52,151,615
G
Nedd8
neural precursor cell expressed, developmentally down-regulated gene 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,899,720...55,909,337
Ensembl chr14:55,899,720...55,909,581
G
Nemf
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,358,315...69,403,975
Ensembl chr12:69,357,296...69,403,939
G
Nfatc4
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,062,252...56,071,400
Ensembl chr14:56,060,601...56,071,400
G
Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
G
Ngdn
neuroguidin, EIF4E binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,252,911...55,261,595
Ensembl chr14:55,252,911...55,261,594
G
Nkx2-1
NK2 homeobox 1
ISO
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human) DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human) DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human) DNA:missense mutation exon:p.L224R (c.671T>G) (human) ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:23911641 PMID:23379327 PMID:18788921 PMID:26839702 More...
RGD:12914768 , RGD:12914769 , RGD:11073166 , RGD:12914770
NCBI chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693
G
Nkx2-9
NK2 homeobox 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:56,658,174...56,660,354
Ensembl chr12:56,658,174...56,660,069
G
Nop9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,983,150...55,993,091
Ensembl chr14:55,983,150...55,992,957
G
Nova1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:46,744,678...46,866,143
Ensembl chr12:46,741,300...46,865,712
G
Npas3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:53,294,874...54,118,956
Ensembl chr12:53,294,940...54,118,958
G
Nrl
neural retina leucine zipper gene
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,756,973...55,762,438
Ensembl chr14:55,756,435...55,762,438
G
Nubpl
nucleotide binding protein-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:52,144,529...52,357,753
Ensembl chr12:52,144,520...52,359,527
G
Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,091,572...56,112,193
Ensembl chr14:56,091,467...56,112,193
G
Or10g1
olfactory receptor family 10 subfamily G member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,647,346...52,648,384
Ensembl chr14:52,646,588...52,651,830
G
Or10g3
olfactory receptor family 10 subfamily G member 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,609,567...52,610,508
Ensembl chr14:52,608,789...52,616,625
G
Or4e2
olfactory receptor family 4 subfamily E member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,687,850...52,688,859
Ensembl chr14:52,680,447...52,690,031
G
Or5au1
olfactory receptor family 5 subfamily AU member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,272,631...52,273,566
Ensembl chr14:52,271,419...52,279,916
G
Oxa1l
oxidase assembly 1-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,598,298...54,607,130
Ensembl chr14:54,598,291...54,607,130
G
Pabpn1
poly(A) binding protein, nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,131,600...55,136,384
Ensembl chr14:55,129,957...55,135,626
G
Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607
G
Pck2
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,777,721...55,787,477
Ensembl chr14:55,777,723...55,788,699
G
Pnn
pinin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:59,113,705...59,120,803
Ensembl chr12:59,113,670...59,120,784
G
Pole2
polymerase (DNA directed), epsilon 2 (p59 subunit)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,248,547...69,274,979
Ensembl chr12:69,248,547...69,274,969
G
Ppp1r3e
protein phosphatase 1, regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,113,054...55,114,995
Ensembl chr14:55,110,126...55,115,007
G
Ppp2r3c
protein phosphatase 2, regulatory subunit B'', gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,327,594...55,350,024
Ensembl chr12:55,325,776...55,349,783
G
Prkd1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:50,388,009...50,696,075
Ensembl chr12:50,388,014...50,695,881
G
Prmt5
protein arginine N-methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982
G
Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,349,422...55,429,276
Ensembl chr12:55,346,362...55,429,318
G
Prpf39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:65,083,094...65,110,160
Ensembl chr12:65,083,107...65,110,160
G
Psma6
proteasome subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,431,007...55,465,244
Ensembl chr12:55,431,007...55,465,239
G
Psmb11
proteasome (prosome, macropain) subunit, beta type, 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,862,767...54,867,013
Ensembl chr14:54,858,890...54,867,013
G
Psmb5
proteasome (prosome, macropain) subunit, beta type 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,851,577...54,855,452
Ensembl chr14:54,851,576...54,855,479
G
Psme1
proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,815,951...55,818,984
Ensembl chr14:55,815,580...55,818,986
G
Psme2
proteasome (prosome, macropain) activator subunit 2 (PA28 beta)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,824,897...55,828,558
Ensembl chr14:55,824,898...55,828,570
G
Rab2b
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,499,216...52,516,852
Ensembl chr14:52,499,216...52,517,002
G
Rabggta
Rab geranylgeranyl transferase, a subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,953,321...55,959,720
Ensembl chr14:55,952,873...55,959,720
G
Ralgapa1
Ral GTPase activating protein, alpha subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,649,673...55,868,522
Ensembl chr12:55,649,681...55,867,952
G
Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,855,459...55,862,852
Ensembl chr14:55,855,494...55,862,852
G
Rem2
rad and gem related GTP binding protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,713,676...54,717,889
Ensembl chr14:54,713,557...54,717,888
G
Ripk3
receptor-interacting serine-threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
G
Rn7s2
7S RNA 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,407,957...69,408,255
Ensembl chr12:69,407,956...69,408,255
G
Rnase1
ribonuclease, RNase A family, 1 (pancreatic)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:51,382,459...51,384,224
Ensembl chr14:51,382,455...51,384,242
G
Rnase13
ribonuclease, RNase A family, 13 (non-active)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,158,817...52,160,734
Ensembl chr14:52,158,819...52,160,230
G
Rnase4
ribonuclease, RNase A family 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:51,328,534...51,343,608
Ensembl chr14:51,328,534...51,343,608
G
Rnase6
ribonuclease, RNase A family, 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:51,361,365...51,369,644
Ensembl chr14:51,361,365...51,369,644
G
Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,020,798...55,091,567
Ensembl chr14:55,051,598...55,091,565
G
Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,829,199...55,841,131
Ensembl chr14:55,829,165...55,841,150
G
Rpgrip1
retinitis pigmentosa GTPase regulator interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003
G
Rpl10l
ribosomal protein L10-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:66,330,153...66,331,175
Ensembl chr12:66,330,153...66,331,175
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Rpl36al
ribosomal protein L36A-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,229,508...69,230,841
Ensembl chr12:69,229,505...69,230,857
G
Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,204,495...69,205,891
Ensembl chr12:69,204,496...69,205,960
G
Sall2
spalt like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,548,634...52,566,127
Ensembl chr14:52,548,629...52,566,219
G
Scfd1
Sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,424,296...51,496,887
Ensembl chr12:51,424,293...51,496,884
G
Sdr39u1
short chain dehydrogenase/reductase family 39U, member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,134,742...56,137,802
Ensembl chr14:56,134,740...56,137,750
G
Sec23a
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:59,005,170...59,058,803
Ensembl chr12:59,005,169...59,058,803
G
Slc22a17
solute carrier family 22 (organic cation transporter), member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,144,184...55,154,527
Ensembl chr14:55,143,761...55,150,589
G
Slc25a21
solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:56,759,419...57,244,257
Ensembl chr12:56,759,419...57,244,257
G
Slc39a2
solute carrier family 39 (zinc transporter), member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,130,539...52,134,202
Ensembl chr14:52,130,346...52,134,202
G
Slc7a7
solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,606,899...54,657,525
Ensembl chr14:54,606,899...54,655,237
G
Slc7a8
solute carrier family 7 (cationic amino acid transporter, y+ system), member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,959,672...55,019,343
Ensembl chr14:54,959,666...55,019,403
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Snx6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:54,793,124...54,842,464
Ensembl chr12:54,793,134...54,842,488
G
Sos2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,630,535...69,728,626
Ensembl chr12:69,630,536...69,728,626
G
Sptssa
serine palmitoyltransferase, small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:54,692,159...54,703,357
Ensembl chr12:54,692,177...54,703,358
G
Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,127,318...55,162,152
Ensembl chr12:55,127,047...55,162,152
G
Sstr1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:58,258,524...58,262,822
Ensembl chr12:58,258,558...58,260,673
G
Strn3
striatin, calmodulin binding protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,655,324...51,743,942
Ensembl chr12:51,656,415...51,738,680
G
Stxbp6
syntaxin binding protein 6 (amisyn)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:44,899,267...45,121,248
Ensembl chr12:44,899,267...45,121,492
G
Supt16
SPT16, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,397,876...52,434,696
Ensembl chr14:52,397,871...52,434,873
G
Tgm1
transglutaminase 1, K polypeptide
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,937,466...55,951,378
Ensembl chr14:55,937,466...55,951,383
G
Thtpa
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,332,241...55,336,452
Ensembl chr14:55,332,241...55,336,443
G
Tinf2
Terf1 (TRF1)-interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,912,120...55,919,265
Ensembl chr14:55,912,146...55,919,277
G
Tm9sf1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,873,422...55,881,263
Ensembl chr14:55,873,422...55,881,263
G
Tmem253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,252,309...52,257,244
Ensembl chr14:52,253,115...52,257,251
G
Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:65,012,350...65,069,347
Ensembl chr12:65,012,578...65,069,347
G
Tox4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,516,603...52,532,966
Ensembl chr14:52,516,603...52,533,858
G
Tppp2
tubulin polymerization-promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,155,887...52,158,161
Ensembl chr14:52,155,882...52,158,157
G
Trappc6b
trafficking protein particle complex 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:59,089,878...59,108,258
Ensembl chr12:59,089,878...59,108,258
G
Tssk4
testis-specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,880,893...55,889,996
Ensembl chr14:55,887,641...55,889,996
G
Ttc6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:57,593,490...57,784,697
Ensembl chr12:57,610,899...57,784,714
G
Vcpkmt
valosin containing protein lysine (K) methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,623,504...69,629,883
Ensembl chr12:69,624,402...69,629,884
G
Zfhx2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,297,722...55,329,875
Ensembl chr14:55,297,719...55,329,781
G
Zfp219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,243,532...52,258,597
Ensembl chr14:52,243,534...52,258,190
G
Gpr88
G-protein coupled receptor 88
ISO
ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation | ClinVar Annotator: match by term: GPR88-related condition
OMIM ClinVar
PMID:25741868 PMID:27123486 PMID:28492532
NCBI chr 3:116,043,304...116,047,123
Ensembl chr 3:116,043,303...116,047,152
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Gna14
guanine nucleotide binding protein, alpha 14
ISO
ClinVar Annotator: match by term: Chorea-acanthocytosis
ClinVar
PMID:15918062
NCBI chr19:16,413,031...16,590,706
Ensembl chr19:16,413,126...16,588,184
G
Tcirg1
T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3
ISO
ClinVar Annotator: match by term: Chorea-acanthocytosis
ClinVar
PMID:10888887 PMID:10942435 PMID:11532986 PMID:16199547 PMID:19448635 PMID:25525159 PMID:25741868 PMID:28492532 More...
NCBI chr19:3,946,050...3,957,717
Ensembl chr19:3,946,050...3,957,133
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Vps13a
vacuolar protein sorting 13A
IAGP ISO
OMIM:200150 ClinVar Annotator: match by term: Chorea-acanthocytosis | ClinVar Annotator: match by term: Choreoacanthocytosis | ClinVar Annotator: match by term: VPS13A-related condition
MouseDO ClinVar OMIM
PMID:9536098 PMID:11381253 PMID:11381254 PMID:12404112 PMID:14663054 PMID:15824261 PMID:15918062 PMID:16199547 PMID:17516458 PMID:17576681 PMID:17998451 PMID:21145924 PMID:21598378 PMID:22038564 PMID:22777538 PMID:24033266 PMID:24974674 PMID:25733999 PMID:25741868 PMID:26467025 PMID:26870756 PMID:27400454 PMID:28492532 PMID:31192303 PMID:32131761 More...
NCBI chr19:16,592,730...16,758,433
Ensembl chr19:16,592,730...16,758,297
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Abat
4-aminobutyrate aminotransferase
treatment
ISO
RGD
PMID:152600 PMID:6237280
RGD:10047058 , RGD:10046047
NCBI chr16:8,331,293...8,439,432
Ensembl chr16:8,331,293...8,439,432
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Ache
acetylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chr 5:137,286,516...137,292,728
Ensembl chr 5:137,285,781...137,292,728
G
Adipoq
adiponectin, C1Q and collagen domain containing
IEP
protein:decreased expression:plasma
RGD
PMID:19124532
RGD:5686822
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
G
Agtr1a
angiotensin II receptor, type 1a
ISO
protein:decreased expression:putamen:
RGD
PMID:8666063
RGD:10047397
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
G
Aifm1
apoptosis-inducing factor, mitochondrion-associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12930891
NCBI chr X:47,563,821...47,602,440
Ensembl chr X:47,563,821...47,602,440
G
Apoa4
apolipoprotein A-IV
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:21297956
RGD:5147768
NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
G
Atf2
activating transcription factor 2
ISO
RGD
PMID:15878807
RGD:10047400
NCBI chr 2:73,646,853...73,723,094
Ensembl chr 2:73,646,853...73,722,983
G
Atf5
activating transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28861715
NCBI chr 7:44,461,680...44,466,082
Ensembl chr 7:44,461,680...44,466,082
G
Atrx
ATRX, chromatin remodeler
IEP
RGD
PMID:22240898
RGD:11040584
NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009
G
Bag1
BCL2-associated athanogene 1
treatment
IMP
RGD
PMID:18400759
RGD:13506921
NCBI chr 4:40,936,398...40,948,294
Ensembl chr 4:40,936,398...40,948,294
G
Bax
BCL2-associated X protein
treatment
ISO
RGD
PMID:11299004 PMID:18938217
RGD:10054041 , RGD:10054048
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
G
Bche
butyrylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
G
Bcl2
B cell leukemia/lymphoma 2
ISO
RGD
PMID:11299004
RGD:10054041
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
G
Bdnf
brain derived neurotrophic factor
treatment
ISO IEP
mRNA, protein:decreased expression:cerebral cortex
RGD
PMID:18093249 PMID:19499586 PMID:17885687
RGD:10058981 , RGD:10059353 , RGD:10415531
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
G
Casp3
caspase 3
treatment
IMP ISO
RGD
PMID:10888929 PMID:15668790
RGD:13432082 , RGD:10413886
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
G
Casp8
caspase 8
ISO
protein:altered localization:cerebellum:
RGD
PMID:10197541
RGD:734695
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
G
Casp9
caspase 9
severity
ISO IEP
protein:increased expression:caudate nucleus: protein:increased expression:striatum:
RGD
PMID:12095160 PMID:12095160
RGD:13432083 , RGD:13432083
NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
G
Cat
catalase
ISO
protein:decreased expression:brain
RGD
PMID:19445928
RGD:5130752
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
G
Cebpa
CCAAT/enhancer binding protein alpha
treatment
IDA IEP
protein:altered localization:liver (mouse)
RGD
PMID:21651979 PMID:17213233
RGD:6484269 , RGD:10401191
NCBI chr 7:34,818,718...34,821,353
Ensembl chr 7:34,818,718...34,821,353
G
Cebpb
CCAAT/enhancer binding protein beta
IEP
protein:increased expression:brain (mouse)
RGD
PMID:14749423
RGD:10401227
NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338
G
Chat
choline O-acetyltransferase
IEP
mRNA:decreased expression:cerebral cortex
RGD
PMID:16987871
RGD:5686805
NCBI chr14:32,130,160...32,187,866
Ensembl chr14:32,130,160...32,187,946
G
Cib1
calcium and integrin binding 1
IEP
mRNA:increased expression:head of caudate nucleus (mouse)
RGD
PMID:24324398
RGD:10401859
NCBI chr 7:79,876,904...79,882,367
Ensembl chr 7:79,876,895...79,882,561
G
Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929960
NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
G
Cnr2
cannabinoid receptor 2
ISO IMP
RGD
PMID:19115380 PMID:19115380
RGD:2316196 , RGD:2316196
NCBI chr 4:135,622,500...135,647,530
Ensembl chr 4:135,622,705...135,647,518
G
Cntf
ciliary neurotrophic factor
treatment
ISO
human gene in a cynomolgus monkey model
RGD
PMID:12040055 PMID:9121555
RGD:628474 , RGD:734795
NCBI chr19:12,740,892...12,742,996
Ensembl chr19:12,741,024...12,742,996
G
Creb1
cAMP responsive element binding protein 1
IAGP ISO
protein:decreased phosphorylation:neuron:
RGD
PMID:11967539 PMID:16420411
RGD:734817 , RGD:10059577
NCBI chr 1:64,571,963...64,643,707
Ensembl chr 1:64,571,804...64,643,707
G
Crebbp
CREB binding protein
treatment disease_progression
IEP IMP
protein:altered localization:nucleus
RGD
PMID:19291221 PMID:20448484 PMID:11264541
RGD:10059583 , RGD:13432094 , RGD:13432093
NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
G
Ctsh
cathepsin H
ISO
protein:increased expression:caudate nucleus
RGD
PMID:7561949
RGD:5686393
NCBI chr 9:89,936,320...89,958,148
Ensembl chr 9:89,936,205...89,958,142
G
Cycs
cytochrome c, somatic
severity
IEP
protein:altered localization:cytosol
RGD
PMID:12095160
RGD:13432083
NCBI chr 6:50,539,543...50,543,549
Ensembl chr 6:50,539,543...50,543,518
G
Diablo
diablo, IAP-binding mitochondrial protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12930891
NCBI chr 5:123,649,393...123,664,825
Ensembl chr 5:123,647,828...123,662,239
G
Dlg4
discs large MAGUK scaffold protein 4
IEP
protein:decreased expression:cerebral cortex, synapse protein:decreased expression:prefrontal cortex
RGD
PMID:25568121 PMID:24728190
RGD:13432154 , RGD:13432155
NCBI chr11:69,908,029...69,938,107
Ensembl chr11:69,907,768...69,938,348
G
Dnah6
dynein, axonemal, heavy chain 6
treatment
IDA
RGD
PMID:24282028
RGD:13432158
NCBI chr 6:72,994,586...73,199,327
Ensembl chr 6:72,994,589...73,198,634
G
Drd1
dopamine receptor D1
ISO IEP IGI
protein:decreased expression:cerebral cortex (mouse)
RGD
PMID:18815258 PMID:16905556 PMID:12111832
RGD:2302117 , RGD:7248682 , RGD:5686414
NCBI chr13:54,205,202...54,209,677
Ensembl chr13:54,205,202...54,209,724
G
Drd2
dopamine receptor D2
IGI IEP
protein:decreased expression:cerebral cortex (mouse)
RGD
PMID:12111832 PMID:16905556
RGD:5686414 , RGD:7248682
NCBI chr 9:49,251,703...49,319,468
Ensembl chr 9:49,251,927...49,319,477
G
Drd3
dopamine receptor D3
IGI
RGD
PMID:12111832
RGD:5686414
NCBI chr16:43,574,285...43,646,353
Ensembl chr16:43,574,389...43,643,295
G
Drd5
dopamine receptor D5
IGI
RGD
PMID:12111832
RGD:5686414
NCBI chr 5:38,476,742...38,479,868
Ensembl chr 5:38,476,710...38,479,861
G
Dusp1
dual specificity phosphatase 1
treatment
ISO
RGD
PMID:23392662
RGD:7771544
NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102
G
Dynlt1a
dynein light chain Tctex-type 1A
treatment
IDA
RGD
PMID:24282028
RGD:13432158
NCBI chr17:6,356,619...6,367,749
Ensembl chr17:6,356,615...6,367,775
G
E2f1
E2F transcription factor 1
ISO
protein:increased expression:brain
RGD
PMID:18768156
RGD:2316262
NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812
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Egfr
epidermal growth factor receptor
IEP
RGD
PMID:12890790
RGD:10047165
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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Egr1
early growth response 1
IEP
RGD
PMID:12191502
RGD:10395281
NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
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Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
IDA ISO
RGD
PMID:11468270 PMID:15567511 PMID:11468270
RGD:10395345 , RGD:10395348 , RGD:10395345
NCBI chr17:79,157,933...79,190,001
Ensembl chr17:79,159,993...79,190,002
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Elk1
ELK1, member of ETS oncogene family
ISO
RGD
PMID:20126313
RGD:7488914
NCBI chr X:20,799,634...20,816,847
Ensembl chr X:20,799,634...20,816,847
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Ep300
E1A binding protein p300
IEP
RGD
PMID:12586550
RGD:13432192
NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
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F2
coagulation factor II
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:21297956
RGD:5147768
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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Faah
fatty acid amide hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929960
NCBI chr 4:115,853,866...115,876,034
Ensembl chr 4:115,824,342...115,875,123
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Fas
Fas cell surface death receptor
ISO
protein:decreased expression:putamen,caudate:
RGD
PMID:11054182
RGD:12903948
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fasl
Fas ligand
ISO
protein:decreased expression:putamen,caudate:
RGD
PMID:11054182
RGD:12903948
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
G
Foxp1
forkhead box P1
IEP ISO
mRNA:decreased expression:striatum (mouse) mRNA:decreased expression:caudate nucleus (human)
RGD
PMID:16405510 PMID:16405510
RGD:11560524 , RGD:11560524
NCBI chr 6:98,902,303...99,510,587
Ensembl chr 6:98,902,299...99,499,682
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
IDA
RGD
PMID:26268247
RGD:13792684
NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430
G
Gdnf
glial cell line derived neurotrophic factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16943855
NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
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Git1
GIT ArfGAP 1
ISO
protein:decreased expression:cerebral cortex (human)
RGD
PMID:15383276
RGD:1549448
NCBI chr11:77,384,114...77,398,600
Ensembl chr11:77,384,388...77,398,612
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Gja1
gap junction protein, alpha 1
ISO
RGD
PMID:10873295
RGD:7207854
NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609
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Glul
glutamate-ammonia ligase
ISO
RGD
PMID:6237280 PMID:3159462
RGD:10046047 , RGD:13524508
NCBI chr 1:153,775,692...153,785,469
Ensembl chr 1:153,775,690...153,785,469
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:18588971
RGD:13432193
NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
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Gpx6
glutathione peroxidase 6
ISO
RGD
PMID:18588971
RGD:13432193
NCBI chr13:21,479,635...21,503,795
Ensembl chr13:21,496,295...21,503,794
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Grik2
glutamate receptor, ionotropic, kainate 2 (beta 2)
onset
ISO
DNA:repeat: (human)
RGD
PMID:10522893
RGD:1358638
NCBI chr10:48,969,776...49,666,523
Ensembl chr10:48,970,929...49,664,862
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Grin2a
glutamate receptor, ionotropic, NMDA2A (epsilon 1)
onset
IEP ISO
DNA:SNPs: :rs1969060 (human) DNA:SNPs: :rs8057394, rs2650427 (human)
RGD
PMID:17409241 PMID:15742215 PMID:17569088
RGD:13432195 , RGD:13432556 , RGD:13432554
NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424
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Grin2b
glutamate receptor, ionotropic, NMDA2B (epsilon 2)
onset
IEP ISO
DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human) DNA:SNP: :2664C>T (rs1806201) (human)
RGD
PMID:17409241 PMID:15742215 PMID:17569088
RGD:13432195 , RGD:13432556 , RGD:13432554
NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509
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Grm5
glutamate receptor, metabotropic 5
treatment disease_progression
IDA IMP
RGD
PMID:23489026 PMID:15306259 PMID:25160573 PMID:24282028
RGD:13432558 , RGD:13432562 , RGD:13432561 , RGD:13432158
NCBI chr 7:87,233,212...87,784,271
Ensembl chr 7:87,233,376...87,784,115
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Gsr
glutathione reductase
treatment
ISO
RGD
PMID:11490092
RGD:10401927
NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
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Haao
3-hydroxyanthranilate 3,4-dioxygenase
ISO
RGD
PMID:2527078
RGD:13524507
NCBI chr17:84,138,777...84,157,589
Ensembl chr17:84,138,585...84,155,392
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Hap1
huntingtin-associated protein 1
onset no_association
ISO IEP IDA
DNA:SNP: :p.T441M (human) DNA:SNP: :rs4523977 (human) DNA:SNP:multiple
RGD
PMID:18192679 PMID:24324398 PMID:26000918 PMID:20512606 PMID:22402331 PMID:22698993 PMID:18192679 More...
RGD:13432575 , RGD:10401859 , RGD:13432579 , RGD:13432578 , RGD:13432577 , RGD:13432576 , RGD:13432575
NCBI chr11:100,238,153...100,247,808
Ensembl chr11:100,238,153...100,246,954
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Hdac1
histone deacetylase 1
IEP
protein:increased expression:striatum: mRNA:increased expression:cerebral cortex
RGD
PMID:22918830 PMID:22965876
RGD:9590098 , RGD:10402189
NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506
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Hdac3
histone deacetylase 3
IEP
protein:increased expression:striatum: mRNA:increased expression:cerebral cortex
RGD
PMID:22918830 PMID:22965876
RGD:9590098 , RGD:10402189
NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069
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Hdac7
histone deacetylase 7
IEP
protein:decreased expression:brain:
RGD
PMID:21118817
RGD:9681718
NCBI chr15:97,690,542...97,742,383
Ensembl chr15:97,690,545...97,742,383
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Hmgcr
3-hydroxy-3-methylglutaryl-Coenzyme A reductase
IDA
RGD
PMID:17702587
RGD:5508462
NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444
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Hnmt
histamine N-methyltransferase
ISO
RGD
PMID:21106039
RGD:5509774
NCBI chr 2:23,892,923...23,939,756
Ensembl chr 2:23,892,922...23,939,406
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Hpca
hippocalcin
ISO
mRNA:decreased expression:brain (human)
RGD
PMID:19686238
RGD:9693681
NCBI chr 4:129,005,363...129,019,712
Ensembl chr 4:129,005,363...129,015,829
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Hsf1
heat shock factor 1
treatment
ISO IEP IDA
human gene in a mouse model protein:decreased expression:liver (mouse)
RGD
PMID:16051598 PMID:19443488 PMID:24381308
RGD:10402372 , RGD:10402387 , RGD:10402386
NCBI chr15:76,361,562...76,385,355
Ensembl chr15:76,361,622...76,386,113
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Hspa8
heat shock protein 8
IEP
protein: increased expression
RGD
PMID:22171050
RGD:5688778
NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383
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Htra2
HtrA serine peptidase 2
IEP
protein:increased expression:striatal neuron (mouse)
RGD
PMID:18662332
RGD:5688723
NCBI chr 6:83,028,247...83,031,552
Ensembl chr 6:83,028,247...83,032,254
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Htt
huntingtin
onset treatment
ISO IAGP
ClinVar Annotator: match by term: HTT-related condition | ClinVar Annotator: match by term: Huntington disease OMIM:143100 CTD Direct Evidence: marker/mechanism DNA:repeats:cds:CAG (human) mRNA:altered expression:cortex, striatum:
ClinVar MouseDO CTD OMIM RGD
PMID:15218539 PMID:15312898 PMID:16137562 PMID:17018277 PMID:17925440 PMID:18831068 PMID:19094060 PMID:19476553 PMID:20929960 PMID:21867705 PMID:25741868 PMID:26740508 PMID:28111121 PMID:28492532 PMID:8898202 PMID:12620967 PMID:21163446 PMID:26938440 PMID:8242074 PMID:17940007 PMID:25062733 PMID:22731249 More...
RGD:1302537 , RGD:13452381 , RGD:11062153 , RGD:11062152 , RGD:10403029 , RGD:10403026 , RGD:10402938 , RGD:6902915
NCBI chr 5:34,919,084...35,069,878
Ensembl chr 5:34,919,084...35,069,878
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Ift57
intraflagellar transport 57
IEP
protein:altered localization:cilia
RGD
PMID:25989602
RGD:13432581
NCBI chr16:49,519,657...49,585,489
Ensembl chr16:49,519,596...49,585,489
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Ift88
intraflagellar transport 88
IEP
protein:altered localization:cilia
RGD
PMID:25989602
RGD:13432581
NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393
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Igf1
insulin-like growth factor 1
treatment
IDA ISO IEP
human protein in a rat model
RGD
PMID:23384443 PMID:15371744 PMID:25140802
RGD:10045865 , RGD:12904970 , RGD:10045870
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Igf1r
insulin-like growth factor I receptor
IMP
RGD
PMID:25140802
RGD:10045870
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
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Il6
interleukin 6
treatment
ISO
RGD
PMID:11860469
RGD:10402809
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Il6ra
interleukin 6 receptor, alpha
treatment
ISO
RGD
PMID:11860469
RGD:10402809
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
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Ip6k2
inositol hexaphosphate kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652713
NCBI chr 9:108,660,928...108,683,532
Ensembl chr 9:108,660,995...108,683,536
G
Itpr1
inositol 1,4,5-trisphosphate receptor 1
IEP ISO IDA
protein:decreased activity:cerebellum, striatum (mouse) protein:decreased expression:neostriatum (rat)
RGD
PMID:21145001 PMID:9761455 PMID:19193873
RGD:6480685 , RGD:6483009 , RGD:6480875
NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070
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Kdm5c
lysine demethylase 5C
ISO
mRNA:increased expression:caudate nucleus (human)
RGD
PMID:23872847
RGD:9587806
NCBI chr X:151,015,698...151,062,098
Ensembl chr X:151,016,016...151,057,531
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L1cam
L1 cell adhesion molecule
IMP
RGD
PMID:17093074
RGD:6483035
NCBI chr X:72,897,384...72,924,843
Ensembl chr X:72,897,384...72,939,711
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Lep
leptin
ISO
protein:decreased expression:serum
RGD
PMID:19573560
RGD:5128676
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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Maoa
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21075085
NCBI chr X:16,485,937...16,554,051
Ensembl chr X:16,485,937...16,554,057
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Maob
monoamine oxidase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21075085
NCBI chr X:16,575,520...16,683,605
Ensembl chr X:16,575,521...16,683,605
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Map2
microtubule-associated protein 2
ISO
RGD
PMID:20092829
RGD:6483090
NCBI chr 1:66,214,337...66,481,742
Ensembl chr 1:66,214,432...66,481,742
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Map3k5
mitogen-activated protein kinase kinase kinase 5
onset treatment
IEP ISO IMP
protein:increased expression:cortex,striatum,nucleus: DNa:SNO:promoter:rs5880308(human)
RGD
PMID:19646509 PMID:18327563 PMID:19646509
RGD:10412311 , RGD:10412314 , RGD:10412311
NCBI chr10:19,809,847...20,018,496
Ensembl chr10:19,810,218...20,018,499
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Mbp
myelin basic protein
ISO
protein:decreased expression:brain:
RGD
PMID:21906685
RGD:7349325
NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
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Meg3
maternally expressed 3
ISO
up-regulated
RGD
PMID:22202438
RGD:11073597
NCBI chr12:109,506,879...109,538,163
Ensembl chr12:109,506,877...109,538,165
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Mir132
microRNA 132
IEP
down-regulated
RGD
PMID:21035445
RGD:11041745
NCBI chr11:75,064,508...75,064,573
Ensembl chr11:75,064,508...75,064,573
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Mir22
microRNA 22
IEP
down-regulated
RGD
PMID:21035445
RGD:11041745
NCBI chr11:75,354,542...75,354,636
Ensembl chr11:75,354,542...75,354,636
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Mir222
microRNA 222
IEP
down-regulated
RGD
PMID:21035445
RGD:11041745
NCBI chr X:19,013,132...19,013,210
Ensembl chr X:19,013,132...19,013,210
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Mir29c
microRNA 29c
IEP
down-regulated
RGD
PMID:21035445
RGD:11041745
NCBI chr 1:194,719,855...194,719,942
Ensembl chr 1:194,719,855...194,719,942
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Mir448
microRNA 448
IEP
up-regulated
RGD
PMID:21035445
RGD:11041745
NCBI chr X:145,941,206...145,941,317
Ensembl chr X:145,941,206...145,941,317
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:striatum
RGD
PMID:21175737
RGD:13204827
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Msh2
mutS homolog 2
onset
IMP
RGD
PMID:12554681
RGD:10412317
NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141
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mt-Co2
cytochrome c oxidase II, mitochondrial
severity
ISO
RGD
PMID:20660112
RGD:13506651
NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696
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mt-Nd3
NADH dehydrogenase 3, mitochondrial
ISO
RGD
PMID:20480544
RGD:5687693
NCBI chr MT:9,459...9,806
Ensembl chr MT:9,459...9,806
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Mtnr1a
melatonin receptor 1A
treatment
IEP ISO
mRNA:decreased expression:brain
RGD
PMID:21994366 PMID:21994366
RGD:9686058 , RGD:9686058
NCBI chr 8:45,522,144...45,542,270
Ensembl chr 8:45,522,174...45,541,543
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Napepld
N-acyl phosphatidylethanolamine phospholipase D
IEP
RGD
PMID:23659592
RGD:10412654
NCBI chr 5:21,867,899...21,906,620
Ensembl chr 5:21,867,899...21,906,394
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Ncor1
nuclear receptor co-repressor 1
ISO
protein:decreased expression:temporal cortex, neuron, nucleus (human)
RGD
PMID:10441327
RGD:5688338
NCBI chr11:62,207,132...62,348,200
Ensembl chr11:62,207,252...62,349,367
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Neat1
nuclear paraspeckle assembly transcript 1 (non-protein coding)
ISO
up-regulated
RGD
PMID:22202438
RGD:11073597
NCBI chr19:5,874,736...5,895,508
Ensembl chr19:5,874,736...5,897,132
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
ISO
mRNA:increased expression:striatum
RGD
PMID:24008671
RGD:10412688
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Nfkb1
nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105
severity
IMP
RGD
PMID:11211235
RGD:10045663
NCBI chr 3:135,290,416...135,397,422
Ensembl chr 3:135,290,416...135,397,308
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Ngfr
nerve growth factor receptor (TNFR superfamily, member 16)
ISO
mRNA:increased expression:caudate nucleus
RGD
PMID:18093249
RGD:10058981
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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Nog
noggin
treatment
ISO
RGD
PMID:17885687
RGD:10415531
NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158
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Npy
neuropeptide Y
onset no_association
ISO IEP
DNA:SNP: :rs3037354 (human) mRNA:decreased expression:hypothalamus DNA:SNP: :rs16147 (human)
RGD
PMID:24121255 PMID:1710657 PMID:23697793 PMID:24121255
RGD:10431606 , RGD:10433553 , RGD:10433112 , RGD:10431606
NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487
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Npy2r
neuropeptide Y receptor Y2
onset
ISO
DNA:SNP: :rs2234759 (human)
RGD
PMID:24121255
RGD:10431606
NCBI chr 3:82,445,688...82,455,404
Ensembl chr 3:82,445,690...82,455,391
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Nrf1
nuclear respiratory factor 1
onset
IEP ISO
mRNA:decreased expression:striatum DNA:SNPs: :rs6949152, rs7781972 (human)
RGD
PMID:20529956 PMID:21595933
RGD:6771173 , RGD:6770890
NCBI chr 6:30,047,984...30,153,462
Ensembl chr 6:30,047,987...30,153,457
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Ogg1
8-oxoguanine DNA-glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19857538
NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029
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Optn
optineurin
ISO
protein:increased expression:neuron, nucleus
RGD
PMID:22318854
RGD:6480499
NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862
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Parp1
poly (ADP-ribose) polymerase family, member 1
ISO
protein:increased expression:neuron,astrocyte:
RGD
PMID:15668790
RGD:10413886
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
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Pcp4
Purkinje cell protein 4
ISO
protein:decreased expression:substantium
RGD
PMID:9697113
RGD:9850159
NCBI chr16:96,268,806...96,326,993
Ensembl chr16:96,268,806...96,326,993
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Pde9a
phosphodiesterase 9A
treatment
ISO
RGD
PMID:25315303
RGD:243048432
NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284
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Plcb3
phospholipase C, beta 3
IEP
RGD
PMID:22917585
RGD:13432582
NCBI chr19:6,931,081...6,951,738
Ensembl chr19:6,929,693...6,953,838
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Polr2a
polymerase (RNA) II (DNA directed) polypeptide A
IEP
RGD
PMID:20089533
RGD:10043799
NCBI chr11:69,624,823...69,649,459
Ensembl chr11:69,624,823...69,649,463
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Ppard
peroxisome proliferator activator receptor delta
IAGP
OMIM:143100
MouseDO
NCBI chr17:28,451,715...28,520,446
Ensembl chr17:28,451,674...28,520,448
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Ppargc1a
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
onset severity no_association treatment
ISO IMP IDA IEP
DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human) protein:increased expression:subthalamic nucleus (rat) DNA:snp:promoter:g.-1437T>C (rs2970870) (human) protein:increased expression:brain (human) DNA:missense mutation:cds:pT612M (rs3736265) (human) DNA:snp:intron:IVS2-19637A>G (rs7665116) (human) DNA:snps, haplotypes:multiple (human) mRNA:decreased expression:medium spiny neuron (mouse) mRNA:decreased expression:caudate nucleus (human)
RGD
PMID:22589246 PMID:22813864 PMID:21211002 PMID:21757867 PMID:19133136 PMID:24383721 PMID:21595933 PMID:19133136 PMID:21493629 PMID:17018277 PMID:20736066 PMID:17018277 PMID:17018277 PMID:21651979 More...
RGD:6484259 , RGD:10395291 , RGD:10395290 , RGD:10395289 , RGD:10053656 , RGD:10053663 , RGD:6770890 , RGD:10053656 , RGD:10053650 , RGD:7242018 , RGD:10053648 , RGD:7242018 , RGD:7242018 , RGD:6484269
NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
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Ppp1r1b
protein phosphatase 1, regulatory inhibitor subunit 1B
ISO
RGD
PMID:18502785
RGD:13515080
NCBI chr11:98,239,232...98,248,622
Ensembl chr11:98,239,230...98,248,622
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Ppp1r9a
protein phosphatase 1, regulatory subunit 9A
IEP ISO
mRNA:decreased expression:striatum(mouse) mRNA:decreased expression:caudate nucleus
RGD
PMID:20089533 PMID:20089533
RGD:10043799 , RGD:10043799
NCBI chr 6:4,902,702...5,165,661
Ensembl chr 6:4,902,917...5,165,661
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Ppp3ca
protein phosphatase 3, catalytic subunit, alpha isoform
IMP
RGD
PMID:19733666
RGD:6483320
NCBI chr 3:136,375,778...136,643,488
Ensembl chr 3:136,375,885...136,643,488
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Prkaa1
protein kinase, AMP-activated, alpha 1 catalytic subunit
IDA ISO
protein:increased phosphorylation, altered localization:nucleus protein:altered localization:nucleus
RGD
PMID:21768291 PMID:21768291
RGD:6484534 , RGD:6484534
NCBI chr15:5,172,641...5,211,380
Ensembl chr15:5,173,343...5,211,380
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Prkn
parkin RBR E3 ubiquitin protein ligase
IMP
RGD
PMID:19464273
RGD:10412729
NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
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Psmb9
proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2)
IEP
RGD
PMID:14684867
RGD:6483364
NCBI chr17:34,401,006...34,406,347
Ensembl chr17:34,400,961...34,406,738
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:21362433
RGD:5508227
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Qprt
quinolinate phosphoribosyltransferase
ISO
RGD
PMID:2527078
RGD:13524507
NCBI chr 7:126,706,942...126,721,201
Ensembl chr 7:126,706,286...126,721,398
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Rcan1
regulator of calcineurin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270310
NCBI chr16:92,188,839...92,263,057
Ensembl chr16:92,188,841...92,267,755
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Setdb1
SET domain, bifurcated 1
ISO
protein:increased expression:neocortex, caudate nucleus (human)
RGD
PMID:17142323
RGD:9590159
NCBI chr 3:95,230,836...95,264,513
Ensembl chr 3:95,230,836...95,264,513
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Sin3a
transcriptional regulator, SIN3A (yeast)
ISO
protein:altered localization:cytoplasm
RGD
PMID:10441327
RGD:5688338
NCBI chr 9:56,979,271...57,035,652
Ensembl chr 9:56,979,324...57,035,650
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Sirt1
sirtuin 1
IMP ISO
human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human) protein:decreased expression:frontal cortex
RGD
PMID:22179316 PMID:9949199 PMID:18538940
RGD:9585998 , RGD:10395240 , RGD:9586004
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
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Slc18a3
solute carrier family 18 (vesicular monoamine), member 3
IEP
mRNA, protein:decreased expression:brain, spinal cord
RGD
PMID:16987871
RGD:5686805
NCBI chr14:32,184,394...32,186,807
Ensembl chr14:32,184,395...32,186,807
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Slc1a2
solute carrier family 1 (glial high affinity glutamate transporter), member 2
ISO IEP
RGD
PMID:9100675 PMID:17409241
RGD:13432194 , RGD:13432195
NCBI chr 2:102,488,584...102,621,129
Ensembl chr 2:102,489,004...102,621,129
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Slc29a1
solute carrier family 29 (nucleoside transporters), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27567601
NCBI chr17:45,896,126...45,910,544
Ensembl chr17:45,896,126...45,910,532
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Sod2
superoxide dismutase 2, mitochondrial
susceptibility
IMP
RGD
PMID:11161607
RGD:13464352
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Srsf6
serine and arginine-rich splicing factor 6
ISO
protein:increased expression:striatum (human)
RGD
PMID:25038828
RGD:11039484
NCBI chr 2:162,773,428...162,779,041
Ensembl chr 2:162,773,448...162,779,041
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Syne3
spectrin repeat containing, nuclear envelope family member 3
ISO
up-regulated
RGD
PMID:22202438
RGD:11073597
NCBI chr12:104,896,192...104,976,357
Ensembl chr12:104,896,192...104,976,068
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Tbp
TATA box binding protein
severity
ISO
protein:increased expression:middle frontal gyrus (human)
RGD
PMID:12531510
RGD:5684339
NCBI chr17:15,720,150...15,737,689
Ensembl chr17:15,720,150...15,748,641
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Tfam
transcription factor A, mitochondrial
ISO IEP
mRNA:decreased expression:striatum
RGD
PMID:21595933 PMID:20529956
RGD:6770890 , RGD:6771173
NCBI chr10:71,061,298...71,074,157
Ensembl chr10:71,061,294...71,074,110
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Timp2
tissue inhibitor of metalloproteinase 2
ISO
RGD
PMID:12614934
RGD:1580169
NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566
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Trip10
thyroid hormone receptor interactor 10
ISO
protein:increased expression:striatum
RGD
PMID:12604778
RGD:11535137
NCBI chr17:57,540,227...57,570,712
Ensembl chr17:57,556,455...57,570,665
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Tug1
taurine upregulated gene 1
ISO
up-regulated
RGD
PMID:22202438
RGD:11073597
NCBI chr11:3,589,313...3,599,021
Ensembl chr11:3,589,785...3,599,673
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Ucp1
uncoupling protein 1 (mitochondrial, proton carrier)
treatment
IDA IEP
mRNA, protein:decreased expression:brown adipose tissue (mouse)
RGD
PMID:20561979 PMID:17055784
RGD:10045649 , RGD:10045650
NCBI chr 8:84,016,977...84,025,085
Ensembl chr 8:84,016,981...84,025,081
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Ucp2
uncoupling protein 2 (mitochondrial, proton carrier)
ISO
mRNA:decreased expression:peripheral blood (human)
RGD
PMID:23029535
RGD:10045655
NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227
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Xpo5
exportin 5
IEP
mRNA:increased expression:striatum (mouse)
RGD
PMID:21035445
RGD:11041745
NCBI chr17:46,513,737...46,554,524
Ensembl chr17:46,513,708...46,554,524
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Zdhhc13
zinc finger, DHHC domain containing 13
IAGP
OMIM:143100
MouseDO
NCBI chr 7:48,438,751...48,477,188
Ensembl chr 7:48,438,751...48,477,188
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Zdhhc17
zinc finger, DHHC domain containing 17
IAGP
OMIM:143100
MouseDO
NCBI chr10:110,777,640...110,848,587
Ensembl chr10:110,777,641...110,846,001
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1700020A23Rik
RIKEN cDNA 1700020A23 gene
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,247,179...130,247,994
Ensembl chr 2:130,247,179...130,247,994
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Adam33
a disintegrin and metallopeptidase domain 33
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,892,739...130,905,734
Ensembl chr 2:130,892,511...130,905,734
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Adissp
adipose secreted signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,988,235...131,002,001
Ensembl chr 2:130,988,244...131,002,001
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Adra1d
adrenergic receptor, alpha 1d
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:131,387,277...131,404,417
Ensembl chr 2:131,387,770...131,404,203
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Ap5s1
adaptor-related protein 5 complex, sigma 1 subunit
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:131,052,280...131,055,434
Ensembl chr 2:131,048,998...131,055,434
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Atrn
attractin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,734,363...130,872,249
Ensembl chr 2:130,748,415...130,872,253
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Avp
arginine vasopressin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,422,540...130,424,508
Ensembl chr 2:130,422,540...130,424,474
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Bmp2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805
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Cdc25b
cell division cycle 25B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:131,028,356...131,040,431
Ensembl chr 2:131,028,869...131,040,417
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Cds2
CDP-diacylglycerol synthase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:132,105,068...132,153,970
Ensembl chr 2:132,105,068...132,153,970
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Cenpb
centromere protein B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:131,019,209...131,021,974
Ensembl chr 2:131,017,102...131,021,987
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Chgb
chromogranin B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:132,623,562...132,636,999
Ensembl chr 2:132,623,198...132,636,999
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Cpxm1
carboxypeptidase X, M14 family member 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,232,695...130,239,549
Ensembl chr 2:130,232,695...130,239,494
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Crls1
cardiolipin synthase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:132,688,557...132,708,706
Ensembl chr 2:132,688,586...132,708,705
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Ddrgk1
DDRGK domain containing 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,495,955...130,506,549
Ensembl chr 2:130,495,880...130,506,579
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Dnaaf9
dynein axonemal assembly factor 9
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,548,120...130,682,565
Ensembl chr 2:130,548,120...130,748,326
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Ebf4
early B cell factor 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,134,832...130,212,402
Ensembl chr 2:130,137,089...130,212,401
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Fastkd5
FAST kinase domains 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,455,766...130,471,922
Ensembl chr 2:130,455,760...130,471,947
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Fermt1
fermitin family member 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:132,746,097...132,787,956
Ensembl chr 2:132,746,309...132,787,826
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Gfra4
glial cell line derived neurotrophic factor family receptor alpha 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,881,552...130,885,008
Ensembl chr 2:130,881,552...130,885,008
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Gpcpd1
glycerophosphocholine phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:132,371,002...132,420,173
Ensembl chr 2:132,371,002...132,429,649
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Hspa12b
heat shock protein 12B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,969,332...130,987,905
Ensembl chr 2:130,969,200...130,988,241
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Idh3b
isocitrate dehydrogenase 3 (NAD+) beta
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,121,229...130,126,371
Ensembl chr 2:130,121,229...130,126,467
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Itpa
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534
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Lrrn4
leucine rich repeat neuronal 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:132,710,436...132,735,930
Ensembl chr 2:132,710,225...132,722,811
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Lzts3
leucine zipper, putative tumor suppressor family member 3
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,474,685...130,484,764
Ensembl chr 2:130,474,759...130,484,723
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Mavs
mitochondrial antiviral signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:131,075,445...131,089,945
Ensembl chr 2:131,075,983...131,089,945
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Mcm8
minichromosome maintenance 8 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:132,658,061...132,686,117
Ensembl chr 2:132,658,061...132,686,117
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Mir103-2
microRNA 103-2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:131,129,972...131,130,057
Ensembl chr 2:131,129,972...131,130,057
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Mrps26
mitochondrial ribosomal protein S26
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,405,677...130,407,314
Ensembl chr 2:130,405,662...130,410,615
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Nop56
NOP56 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,112,904...130,121,233
Ensembl chr 2:130,116,350...130,121,233
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Oxt
oxytocin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,416,432...130,418,974
Ensembl chr 2:130,418,093...130,418,974
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Pank2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:131,103,928...131,141,108
Ensembl chr 2:131,104,415...131,141,108
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Pced1a
PC-esterase domain containing 1A
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,259,603...130,266,692
Ensembl chr 2:130,259,167...130,266,621
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Pcna
proliferating cell nuclear antigen
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234
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Pdyn
prodynorphin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:129,528,469...129,541,858
Ensembl chr 2:129,528,485...129,541,764
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Prnd
prion like protein doppel
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:131,792,781...131,798,051
Ensembl chr 2:131,792,781...131,798,050
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Prnp
prion protein
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES
CTD OMIM ClinVar
PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2180366 PMID:2190844 PMID:2253724 PMID:2378641 PMID:2458274 PMID:2564168 PMID:2572450 PMID:2783132 PMID:2812321 PMID:7902693 PMID:7902971 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7954833 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8698234 PMID:8880705 PMID:8909447 PMID:8939199 PMID:9266722 PMID:9270595 PMID:9279329 PMID:9384372 PMID:9482303 PMID:9531435 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9786248 PMID:9789072 PMID:9813003 PMID:10050890 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10588836 PMID:10612329 PMID:10631141 PMID:10665501 PMID:10790216 PMID:10889050 PMID:10953203 PMID:10970892 PMID:10987652 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11568919 PMID:11709001 PMID:11749972 PMID:11756421 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12372829 PMID:12420099 PMID:12451207 PMID:12590162 PMID:12601712 PMID:12690204 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15304595 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15558291 PMID:15739100 PMID:15753435 PMID:15776279 PMID:15967879 PMID:15987701 PMID:16025285 PMID:16187142 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16314483 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16533975 PMID:16565881 PMID:16914329 PMID:16939293 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17494694 PMID:17666888 PMID:17851697 PMID:18425766 PMID:18455951 PMID:18478114 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19543376 PMID:19680558 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20038778 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20541558 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:20932979 PMID:21107135 PMID:21269331 PMID:21298055 PMID:21416485 PMID:21552571 PMID:21616973 PMID:21791975 PMID:21839748 PMID:21904617 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22488860 PMID:22561193 PMID:22584955 PMID:22717776 PMID:22788868 PMID:22947063 PMID:22965875 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23261545 PMID:23296137 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:23723004 PMID:23871665 PMID:24583440 PMID:24838726 PMID:24958194 PMID:25022973 PMID:25064618 PMID:25279981 PMID:25450391 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:25959220 PMID:26000326 PMID:26268049 PMID:26323476 PMID:26488179 PMID:26578040 PMID:26713717 PMID:26740554 PMID:26757195 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27649893 PMID:27716661 PMID:27803826 PMID:28314738 PMID:28492532 PMID:29092967 PMID:29382530 PMID:29458424 PMID:29704165 PMID:29887139 PMID:29887141 PMID:31447551 PMID:32317127 PMID:32775516 PMID:32986314 PMID:32998248 PMID:33731477 PMID:34663460 PMID:35812092 More...
NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349
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Prokr2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:132,211,625...132,227,413
Ensembl chr 2:132,179,653...132,227,367
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Ptpra
protein tyrosine phosphatase receptor type A
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,292,198...130,396,220
Ensembl chr 2:130,292,198...130,398,044
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Rassf2
Ras association (RalGDS/AF-6) domain family member 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:131,834,770...131,872,336
Ensembl chr 2:131,831,335...131,872,178
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Rnf24
ring finger protein 24
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:131,139,984...131,194,766
Ensembl chr 2:131,139,984...131,194,812
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Shld1
shieldin complex subunit 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:132,528,871...132,592,975
Ensembl chr 2:132,528,851...132,592,975
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Siglec1
sialic acid binding Ig-like lectin 1, sialoadhesin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,911,140...130,928,697
Ensembl chr 2:130,911,140...130,928,685
G
Slc23a2
solute carrier family 23 (nucleobase transporters), member 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:131,894,416...131,987,287
Ensembl chr 2:131,894,416...131,987,028
G
Slc4a11
solute carrier family 4, sodium bicarbonate transporter-like, member 11
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,526,027...130,539,439
Ensembl chr 2:130,526,033...130,539,439
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Smox
spermine oxidase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:131,333,624...131,367,103
Ensembl chr 2:131,333,416...131,367,842
G
Snrpb
small nuclear ribonucleoprotein B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,013,560...130,031,184
Ensembl chr 2:130,013,555...130,021,323
G
Spef1
sperm flagellar 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:131,012,181...131,016,730
Ensembl chr 2:131,012,181...131,029,202
G
Stk35
serine/threonine kinase 35
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:129,642,437...129,674,207
Ensembl chr 2:129,642,437...129,674,207
G
Tgm3
transglutaminase 3, E polypeptide
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:129,829,700...129,890,814
Ensembl chr 2:129,854,269...129,892,319
G
Tgm6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:129,954,336...129,996,153
Ensembl chr 2:129,954,336...129,996,152
G
Tmc2
transmembrane channel-like gene family 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,037,114...130,106,365
Ensembl chr 2:130,037,114...130,106,365
G
Tmem230
transmembrane protein 230
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:132,081,412...132,089,708
Ensembl chr 2:132,081,412...132,089,727
G
Tmem239
transmembrane 239
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,248,442...130,249,714
Ensembl chr 2:130,248,398...130,249,822
G
Trmt6
tRNA methyltransferase 6
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:132,646,127...132,658,127
Ensembl chr 2:132,646,127...132,657,975
G
Ubox5
U box domain containing 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,431,916...130,471,958
Ensembl chr 2:130,431,922...130,471,958
G
Vps16
VSP16 CORVET/HOPS core subunit
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr 2:130,265,744...130,286,189
Ensembl chr 2:130,266,259...130,286,189
G
Jph3
junctophilin 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Huntington disease-like 2 | ClinVar Annotator: match by term: JPH3-related condition
OMIM CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015
G
Cfap47
cilia and flagella associated protein 47
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:78,310,164...78,560,957
Ensembl chr X:78,310,165...78,560,891
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Cybb
cytochrome b-245, beta polypeptide
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010
G
Dmd
dystrophin, muscular dystrophy
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:81,858,244...84,248,656
Ensembl chr X:81,992,476...84,249,747
G
Dynlt3
dynein light chain Tctex-type 3
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:9,520,509...9,529,222
Ensembl chr X:9,520,506...9,529,242
G
Fam47c
family with sequence similarity 47, member C
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:77,781,369...77,783,016
Ensembl chr X:77,781,369...77,783,007
G
Lancl3
LanC lantibiotic synthetase component C-like 3 (bacterial)
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:9,066,212...9,134,324
Ensembl chr X:9,066,141...9,134,324
G
Mageb16-ps1
MAGE family member B16, pseudogene 1
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:143,335,754...143,339,235
Ensembl chr X:143,338,207...143,339,333
G
Prrg1
proline rich Gla (G-carboxyglutamic acid) 1
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:77,493,216...77,627,539
Ensembl chr X:77,493,219...77,627,502
G
Tmem47
transmembrane protein 47
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome
ClinVar
PMID:11761473 PMID:13860532 PMID:25934153 PMID:28555782 PMID:30128557
NCBI chr X:80,114,250...80,141,481
Ensembl chr X:80,114,304...80,141,478
G
Xk
X-linked Kx blood group
ISO
ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8004674 PMID:8619554 PMID:10426139 PMID:11261514 PMID:11703337 PMID:11761473 PMID:11961232 PMID:13860532 PMID:17133513 PMID:17302777 PMID:25741868 PMID:25934153 PMID:28492532 PMID:28555782 PMID:30128557 PMID:30800707 More...
NCBI chr X:9,139,023...9,179,484
Ensembl chr X:9,138,995...9,179,489
G
Milr1
mast cell immunoglobulin like receptor 1
ISO
ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
ClinVar
PMID:25741868 PMID:28492532 PMID:31778857
NCBI chr11:106,641,472...106,659,620
Ensembl chr11:106,642,052...106,659,620
G
Polg2
polymerase (DNA directed), gamma 2, accessory subunit
ISO
ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31778857
NCBI chr11:106,659,030...106,670,363
Ensembl chr11:106,659,079...106,670,363
G
Vps13a
vacuolar protein sorting 13A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acanthocytosis with neurologic disorder
CTD ClinVar
PMID:12404112 PMID:21145924 PMID:22777538 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr19:16,592,730...16,758,433
Ensembl chr19:16,592,730...16,758,297
G
Xk
X-linked Kx blood group
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8619554 PMID:11761473
NCBI chr X:9,139,023...9,179,484
Ensembl chr X:9,138,995...9,179,489
G
Aamp
angio-associated migratory protein
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,318,999...74,324,833
Ensembl chr 1:74,318,999...74,323,897
G
Abcb6
ATP-binding cassette, sub-family B member 6
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036
G
Ankzf1
ankyrin repeat and zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,168,794...75,176,031
Ensembl chr 1:75,168,795...75,176,031
G
Arpc2
actin related protein 2/3 complex, subunit 2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,275,656...74,307,368
Ensembl chr 1:74,275,243...74,307,368
G
Asic4
acid-sensing ion channel family member 4
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,426,467...75,450,984
Ensembl chr 1:75,427,080...75,450,987
G
Atg9a
autophagy related 9A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,157,509...75,168,654
Ensembl chr 1:75,157,504...75,168,840
G
Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,627,448...74,631,602
Ensembl chr 1:74,627,448...74,631,602
G
Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,401,272...74,408,482
Ensembl chr 1:74,401,267...74,408,480
G
Cdk5r2
cyclin dependent kinase 5, regulatory subunit 2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,894,188...74,896,891
Ensembl chr 1:74,894,093...74,896,891
G
Cfap65
cilia and flagella associated protein 65
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,941,230...74,974,785
Ensembl chr 1:74,941,230...74,974,758
G
Chpf
chondroitin polymerizing factor
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,451,213...75,456,115
Ensembl chr 1:75,451,213...75,455,951
G
Cnot9
CCR4-NOT transcription complex, subunit 9
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,545,192...74,570,001
Ensembl chr 1:74,545,217...74,570,001
G
Cnppd1
cyclin Pas1/PHO80 domain containing 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,112,406...75,119,374
Ensembl chr 1:75,111,198...75,119,355
G
Cryba2
crystallin, beta A2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,929,093...74,938,001
Ensembl chr 1:74,929,093...74,932,302
G
Ctdsp1
CTD small phosphatase 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,430,625...74,436,444
Ensembl chr 1:74,430,668...74,436,444
G
Cxcr1
C-X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,228,862...74,233,867
Ensembl chr 1:74,230,944...74,233,790
G
Cxcr2
C-X-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
G
Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,752,311...74,777,056
Ensembl chr 1:74,752,733...74,777,051
G
Des
desmin
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223
G
Dnajb2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,213,039...75,222,336
Ensembl chr 1:75,213,050...75,222,336
G
Dnpep
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,285,209...75,294,648
Ensembl chr 1:75,284,540...75,294,634
G
Fev
FEV transcription factor, ETS family member
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,920,660...74,924,632
Ensembl chr 1:74,920,668...74,924,578
G
Glb1l
galactosidase, beta 1-like
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,174,178...75,187,460
Ensembl chr 1:75,174,880...75,187,457
G
Gmppa
GDP-mannose pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,412,555...75,419,823
Ensembl chr 1:75,412,574...75,419,823
G
Gpbar1
G protein-coupled bile acid receptor 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,316,269...74,318,868
Ensembl chr 1:74,317,709...74,318,783
G
Ihh
Indian hedgehog
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831
G
Mir26b
microRNA 26b
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,433,469...74,433,553
Ensembl chr 1:74,433,469...74,433,553
G
Mir375
microRNA 375
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,939,817...74,939,880
Ensembl chr 1:74,939,817...74,939,880
G
Nhej1
non-homologous end joining factor 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,006,505...75,101,870
Ensembl chr 1:75,006,298...75,101,844
G
Obsl1
obscurin-like 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,462,469...75,483,134
Ensembl chr 1:75,455,954...75,483,096
G
Plcd4
phospholipase C, delta 4
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,581,175...74,605,137
Ensembl chr 1:74,582,047...74,606,953
G
Pnkd
paroxysmal nonkinesiogenic dyskinesia
ISO IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 OMIM:118800
OMIM CTD ClinVar MouseDO
PMID:8659518 PMID:9490305 PMID:9536098 PMID:15262732 PMID:15496428 PMID:15824259 PMID:16199547 PMID:16216955 PMID:17576681 PMID:19124534 PMID:20301400 PMID:21487022 PMID:22967746 PMID:24033266 PMID:25107857 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28893297 More...
NCBI chr 1:74,323,757...74,392,851
Ensembl chr 1:74,324,089...74,392,853
G
Prkag3
protein kinase, AMP-activated, gamma 3 non-catalytic subunit
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,778,062...74,788,623
Ensembl chr 1:74,778,081...74,788,380
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 PMID:22243967 PMID:22399141 PMID:22623405 PMID:22744660 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23299620 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24928127 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26467025 PMID:26561923 PMID:26598493 PMID:28492532 PMID:29334453 PMID:33661484 PMID:34782754 More...
NCBI chr 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383
G
Ptprn
protein tyrosine phosphatase receptor type N
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,223,679...75,241,437
Ensembl chr 1:75,223,671...75,241,146
G
Resp18
regulated endocrine-specific protein 18
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,248,841...75,255,059
Ensembl chr 1:75,248,843...75,255,059
G
Retreg2
reticulophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,119,432...75,124,553
Ensembl chr 1:75,119,422...75,124,557
G
Rnf25
ring finger protein 25
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,632,907...74,640,556
Ensembl chr 1:74,632,907...74,640,556
G
Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
G
Slc23a3
solute carrier family 23 (nucleobase transporters), member 3
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,102,185...75,112,113
Ensembl chr 1:75,102,185...75,110,534
G
Speg
SPEG complex locus
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,351,931...75,408,964
Ensembl chr 1:75,351,941...75,408,964
G
Stk16
serine/threonine kinase 16
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,187,463...75,192,250
Ensembl chr 1:75,187,482...75,192,250
G
Stk36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,640,583...74,676,053
Ensembl chr 1:74,640,604...74,676,053
G
Tmbim1
transmembrane BAX inhibitor motif containing 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:16199547 PMID:28492532
NCBI chr 1:74,327,406...74,343,495
Ensembl chr 1:74,327,406...74,344,781
G
Tmem198
transmembrane protein 198
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,456,115...75,462,337
Ensembl chr 1:75,456,176...75,462,349
G
Ttll4
tubulin tyrosine ligase-like family, member 4
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,700,804...74,740,991
Ensembl chr 1:74,700,904...74,742,889
G
Tuba4a
tubulin, alpha 4A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,190,867...75,197,905
Ensembl chr 1:75,190,872...75,196,509
G
Usp37
ubiquitin specific peptidase 37
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,474,669...74,583,447
Ensembl chr 1:74,474,670...74,583,443
G
Vil1
villin 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,448,543...74,474,719
Ensembl chr 1:74,448,535...74,474,718
G
Wnt10a
wingless-type MMTV integration site family, member 10A
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338
G
Wnt6
wingless-type MMTV integration site family, member 6
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,793,499...74,824,481
Ensembl chr 1:74,811,051...74,824,481
G
Zfand2b
zinc finger, AN1 type domain 2B
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:75,145,290...75,148,270
Ensembl chr 1:75,145,290...75,148,273
G
Zfp142
zinc finger protein 142
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia
ClinVar
PMID:28492532
NCBI chr 1:74,605,490...74,627,308
Ensembl chr 1:74,604,286...74,627,405
G
Dlg5
discs large MAGUK scaffold protein 5
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
ClinVar
PMID:28492532
NCBI chr14:24,184,021...24,295,988
Ensembl chr14:24,184,021...24,295,988
G
Kcna1
potassium voltage-gated channel, shaker-related subfamily, member 1
ISO
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
ClinVar
PMID:25741868 PMID:34305802
NCBI chr 6:126,613,426...126,622,764
Ensembl chr 6:126,617,360...126,623,347
G
Kcnma1
potassium large conductance calcium-activated channel, subfamily M, alpha member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
CTD OMIM ClinVar
PMID:9536098 PMID:15937479 PMID:16199547 PMID:16946189 PMID:17576681 PMID:18414213 PMID:19266219 PMID:20430843 PMID:25326635 PMID:25326637 PMID:25640679 PMID:25741868 PMID:26195193 PMID:26467025 PMID:27567911 PMID:28492532 PMID:29330545 PMID:29356177 PMID:29545233 PMID:29738522 PMID:29778030 PMID:29933521 PMID:31069529 PMID:31152168 More...
NCBI chr14:23,342,356...24,055,173
Ensembl chr14:23,339,499...24,064,559
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