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: basal ganglia disease
Accession: DOID:679
browse the term
Definition: A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits. (DO)
Synonyms: exact_synonym: Basal Ganglia Disorder; Extrapyramidal Disorder; Extrapyramidal Disorders; Lenticulostriate Disorder; basal ganglia diseases; basal ganglia disorders; lenticulostriate disorders
primary_id: MESH:D001480
xref: EFO:0009533
For additional species annotation, visit the
Alliance of Genome Resources .
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CYP2D15
cytochrome P450 family 2 subfamily D member 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16000684
NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298
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DRD2
dopamine receptor D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11198054 PMID:12211096 PMID:18480698 PMID:19225277 PMID:19506579
NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241
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DRD3
dopamine receptor D3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19506579
NCBI chr33:18,369,362...18,414,465
Ensembl chr33:18,372,865...18,412,277
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FTL
ferritin light chain
ISO
DNA:insertion:exon:460_461insA(human)
RGD
PMID:11438811
RGD:5509839
NCBI chr 1:107,418,457...107,419,923
Ensembl chr 1:107,418,458...107,419,923
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HTR2A
5-hydroxytryptamine receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18480698
NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037
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LOC486151
thiamine transporter 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19387023
NCBI chr25:40,411,489...40,442,183
Ensembl chr25:40,412,427...40,438,042
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MICU1
mitochondrial calcium uptake 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24336167
NCBI chr 4:22,989,213...23,237,278
Ensembl chr 4:22,990,034...23,237,160
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PDE8B
phosphodiesterase 8B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20085714
NCBI chr 3:29,289,867...29,432,557
Ensembl chr 3:29,291,549...29,432,542
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PDGFB
platelet derived growth factor subunit B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25938945
NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
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PDGFRB
platelet derived growth factor receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25938945
NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
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PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7214106
NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
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SLC20A2
solute carrier family 20 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25938945
NCBI chr16:23,165,347...23,268,115
Ensembl chr16:23,200,798...23,267,775
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XPR1
xenotropic and polytropic retrovirus receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25938945
NCBI chr 7:14,165,608...14,379,822
Ensembl chr 7:14,165,608...14,379,822
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ADAR
adenosine deaminase RNA specific
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26629815 PMID:28139822 PMID:28492532 PMID:28561207 PMID:29221912 PMID:29603717 PMID:31772029 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 PMID:35859177 More...
NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
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ATRIP
ATR interacting protein
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar
PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:21270825 PMID:21937424 PMID:23602593 PMID:23881107 PMID:24033266 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:29159939 PMID:29239743 PMID:29453417 PMID:30219631 PMID:31980526 PMID:32860008 PMID:33504652 PMID:34426522 PMID:35307828 PMID:35532072 More...
NCBI chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594
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IFIH1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:25741868
NCBI chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048
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KAT5
lysine acetyltransferase 5
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:25741868
NCBI chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699
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RNASEH2A
ribonuclease H2 subunit A
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25604658 PMID:25741868 PMID:26182405 PMID:27943079 PMID:28492532 PMID:31130681 More...
NCBI chr20:49,345,258...49,352,944
Ensembl chr20:49,345,266...49,355,167
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RNASEH2B
ribonuclease H2 subunit B
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:21177858 PMID:22149989 PMID:23165795 PMID:24033266 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25604658 PMID:25614871 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:30111349 PMID:30223285 PMID:30609409 PMID:30826161 PMID:31130284 PMID:31130681 PMID:31367981 PMID:31529068 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:33258288 PMID:33967934 More...
NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223
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RNASEH2C
ribonuclease H2 subunit C
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:23322642 PMID:25604658 PMID:25741868 PMID:28492532 PMID:29150899 PMID:29239743 PMID:31529068 PMID:34302356 More...
NCBI chr18:51,498,282...51,501,844
Ensembl chr18:51,498,308...51,499,541
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SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24445253 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:27943079 PMID:28229507 PMID:28492532 PMID:30275001 PMID:32371413 PMID:32384610 PMID:34492268 PMID:36115319 More...
NCBI chr24:25,623,997...25,676,336
Ensembl chr24:25,626,134...25,680,902
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TLDC2
TBC/LysM-associated domain containing 2
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:28492532
NCBI chr24:25,602,002...25,623,273
Ensembl chr24:25,610,851...25,623,803
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TREX1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar
PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:21270825 PMID:21937424 PMID:23602593 PMID:23881107 PMID:24033266 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:29159939 PMID:29239743 PMID:29453417 PMID:30219631 PMID:31980526 PMID:32860008 PMID:33504652 PMID:34426522 PMID:35307828 PMID:35532072 More...
NCBI chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906
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USP18
ubiquitin specific peptidase 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr27:45,739,845...45,814,668
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AMIGO3
adhesion molecule with Ig like domain 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,554,028...39,557,129
Ensembl chr20:39,554,629...39,556,155
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AMT
aminomethyltransferase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506
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APEH
acylaminoacyl-peptide hydrolase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,587,316...39,596,324
Ensembl chr20:39,587,279...39,596,228
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ARIH2
ariadne RBR E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,178,560...40,230,870
Ensembl chr20:40,179,168...40,230,880
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ATRIP
ATR interacting protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:19344873 PMID:19875384 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23918923 PMID:23979357 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25500883 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:27604306 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29453956 PMID:30219631 PMID:31130681 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32860008 PMID:33504652 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:35307828 PMID:35532072 PMID:35803721 PMID:35879334 More...
NCBI chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594
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BSN
bassoon presynaptic cytomatrix protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,601,803...39,696,831
Ensembl chr20:39,605,117...39,642,298
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C20H3orf62
chromosome 20 C3orf62 homolog
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,953,285...39,959,112
Ensembl chr20:39,953,764...39,956,754
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C20H3orf84
chromosome 20 C3orf84 homolog
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,012,730...40,021,983
Ensembl chr20:40,012,854...40,021,981
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CAMKV
CaM kinase like vesicle associated
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,413,050...39,428,973
Ensembl chr20:39,424,519...39,427,612
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CCDC71
coiled-coil domain containing 71
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,031,573...40,036,895
Ensembl chr20:40,033,839...40,035,416
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CDHR4
cadherin related family member 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,473,450...39,482,158
Ensembl chr20:39,473,848...39,482,144
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CELSR3
cadherin EGF LAG seven-pass G-type receptor 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,457,430...40,495,128
Ensembl chr20:40,457,657...40,483,881
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COL7A1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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DAG1
dystroglycan 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
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DALRD3
DALR anticodon binding domain containing 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,145,239...40,148,731
Ensembl chr20:40,145,700...40,148,729 Ensembl chr20:40,145,700...40,148,729
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GMPPB
GDP-mannose pyrophosphorylase B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
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GNAI2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697
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GNAT1
G protein subunit alpha transducin 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,128,244...39,133,280
Ensembl chr20:39,128,244...39,133,280
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GPX1
glutathione peroxidase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
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HYAL1
hyaluronidase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,035,924...39,040,443
Ensembl chr20:39,038,514...39,040,368
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HYAL3
hyaluronidase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,041,940...39,047,388
Ensembl chr20:39,042,070...39,047,365
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IFRD2
interferon related developmental regulator 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,047,573...39,053,528
Ensembl chr20:39,048,259...39,053,341
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IHO1
interactor of HORMAD1 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,964,629...40,006,726
Ensembl chr20:39,965,480...39,990,756
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IMPDH2
inosine monophosphate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,136,106...40,140,983
Ensembl chr20:40,136,154...40,140,972
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INKA1
inka box actin regulator 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,469,103...39,477,169
Ensembl chr20:39,469,146...39,470,857
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IP6K1
inositol hexakisphosphate kinase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,484,487...39,550,199
Ensembl chr20:39,484,531...39,547,412
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IP6K2
inositol hexakisphosphate kinase 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,403,260...40,437,863
Ensembl chr20:40,427,083...40,437,804
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KLHDC8B
kelch domain containing 8B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,012,797...40,027,888
Ensembl chr20:40,023,411...40,026,552
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LAMB2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523
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LSMEM2
leucine rich single-pass membrane protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,053,152...39,058,467
Ensembl chr20:39,053,950...39,054,717
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MIR191
microRNA mir-191
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,144,135...40,144,198
Ensembl chr20:40,144,121...40,144,210
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MON1A
MON1 homolog A, secretory trafficking associated
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,368,757...39,383,175
Ensembl chr20:39,378,694...39,383,175
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MST1
macrophage stimulating 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,582,237...39,586,958
Ensembl chr20:39,582,282...39,586,908
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MST1R
macrophage stimulating 1 receptor
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,386,970...39,400,780
Ensembl chr20:39,387,322...39,400,588
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NAA80
N-alpha-acetyltransferase 80, NatH catalytic subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,042,078...39,044,894
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NCKIPSD
NCK interacting protein with SH3 domain
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,443,245...40,449,859
Ensembl chr20:40,442,386...40,449,542
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NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,141,550...40,143,207
Ensembl chr20:40,141,552...40,172,553
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NICN1
nicolin 1, tubulin polyglutamylase complex subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,810,692...39,814,354
Ensembl chr20:39,810,692...39,814,354
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P4HTM
prolyl 4-hydroxylase, transmembrane
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,157,952...40,172,624
Ensembl chr20:40,157,952...40,172,599
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PFKFB4
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,556,548...40,587,036
Ensembl chr20:40,556,790...40,585,652
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PRKAR2A
protein kinase cAMP-dependent type II regulatory subunit alpha
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,277,655...40,388,156
Ensembl chr20:40,277,906...40,384,633
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QARS1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099
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QRICH1
glutamine rich 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,086,141...40,135,810
Ensembl chr20:40,097,149...40,135,140
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RBM5
RNA binding motif protein 5
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,198,706...39,227,856
Ensembl chr20:39,199,154...39,227,769
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RBM6
RNA binding motif protein 6
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,235,301...39,359,784
Ensembl chr20:39,235,421...39,334,107
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RHOA
ras homolog family member A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
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RNASEH2B
ribonuclease H2 subunit B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:25741868 PMID:25741914
NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223
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RNF123
ring finger protein 123
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,553,016...39,582,127
Ensembl chr20:39,553,059...39,579,844
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SEMA3B
semaphorin 3B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,058,708...39,067,277
Ensembl chr20:39,059,245...39,065,661
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SEMA3F
semaphorin 3F
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,135,580...39,165,381
Ensembl chr20:39,136,523...39,161,325
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SHISA5
shisa family member 5
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,604,183...40,624,607
Ensembl chr20:40,601,626...40,623,601
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SLC25A20
solute carrier family 25 member 20
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,244,222...40,271,100
Ensembl chr20:40,244,229...40,270,433
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SLC38A3
solute carrier family 38 member 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,108,387...39,122,526
Ensembl chr20:39,109,211...39,114,849
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TCTA
T cell leukemia translocation altered
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,820,845...39,824,526
Ensembl chr20:39,822,211...39,824,200
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TMEM89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,496,844...40,497,742
Ensembl chr20:40,496,844...40,497,742
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TRAIP
TRAF interacting protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,430,109...39,454,437
Ensembl chr20:39,430,489...39,453,933
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TREX1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
OMIM ClinVar
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:19344873 PMID:19875384 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23918923 PMID:23979357 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25500883 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:27604306 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29453956 PMID:30219631 PMID:31130681 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32860008 PMID:33504652 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:35307828 PMID:35532072 PMID:35803721 PMID:35879334 More...
NCBI chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906
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UBA7
ubiquitin like modifier activating enzyme 7
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,459,981...39,468,919
Ensembl chr20:39,460,216...39,468,917
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UCN2
urocortin 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,551,060...40,552,920
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UQCRC1
ubiquinol-cytochrome c reductase core protein 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,507,767...40,515,854
Ensembl chr20:40,506,907...40,520,110
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USP19
ubiquitin specific peptidase 19
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,062,802...40,074,221
Ensembl chr20:40,064,599...40,074,082
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USP4
ubiquitin specific peptidase 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:39,899,880...39,952,959
Ensembl chr20:39,899,897...39,952,420
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WDR6
WD repeat domain 6
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr20:40,148,262...40,157,770
Ensembl chr20:40,148,928...40,157,650
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RNASEH2B
ribonuclease H2 subunit B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:21177858 PMID:22149989 PMID:22882256 PMID:23165795 PMID:24033266 PMID:24183309 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25614871 PMID:25741868 PMID:25741914 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26846091 PMID:26860721 PMID:26903602 PMID:27009121 PMID:27943079 PMID:28332073 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:30111349 PMID:30223285 PMID:30609409 PMID:30826161 PMID:30889214 PMID:31130284 PMID:31130681 PMID:31367981 PMID:31529068 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:32488064 PMID:33084218 PMID:33258288 PMID:33307271 PMID:33482855 PMID:33967934 PMID:33981319 More...
NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223
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ACTN3
actinin alpha 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,787,353...50,801,036
Ensembl chr18:50,787,353...50,801,197
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ACY3
aminoacylase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,860,273...49,865,202
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AIP
aryl hydrocarbon receptor interacting protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,986,582...49,992,756
Ensembl chr18:49,986,587...49,992,676
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ALDH3B1
aldehyde dehydrogenase 3 family member B1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,801,893...49,819,727
Ensembl chr18:49,802,121...49,819,713
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ANKRD13D
ankyrin repeat domain 13D
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,135,779...50,145,721
Ensembl chr18:50,135,792...50,145,846
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ANO1
anoctamin 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:48,108,310...48,249,021
Ensembl chr18:48,108,806...48,189,471
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AP5B1
adaptor related protein complex 5 subunit beta 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,472,966...51,476,231
Ensembl chr18:51,462,758...51,476,114
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B4GAT1
beta-1,4-glucuronyltransferase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264
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BANF1
BAF nuclear assembly factor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,269,817...51,271,484
Ensembl chr18:51,269,815...51,271,690
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BBS1
Bardet-Biedl syndrome 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,816,126...50,835,354
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BRMS1
BRMS1 transcriptional repressor and anoikis regulator
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,967,175...50,974,816
Ensembl chr18:50,967,270...50,974,321
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C18H11orf24
chromosome 18 C11orf24 homolog
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,580,495...49,590,962
Ensembl chr18:49,584,563...49,591,683
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C18H11orf68
chromosome 18 C11orf68 homolog
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,353,212...51,355,490
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C18H11orf86
chromosome 18 C11orf86 homolog
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,394,024...50,395,968
Ensembl chr18:50,394,805...50,395,812
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CABP2
calcium binding protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268
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CABP4
calcium binding protein 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854
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CAPN1
calpain 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757
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CARNS1
carnosine synthase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,041,545...50,050,438
Ensembl chr18:50,042,465...50,050,949
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CATSPER1
cation channel sperm associated 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,249,897...51,260,211
Ensembl chr18:51,250,039...51,260,168
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CCDC85B
coiled-coil domain containing 85B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,375,015...51,376,044
Ensembl chr18:51,375,261...51,375,866
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CCDC87
coiled-coil domain containing 87
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,759,378...50,762,205
Ensembl chr18:50,759,436...50,762,057
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CCND1
cyclin D1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
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CCS
copper chaperone for superoxide dismutase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,748,039...50,759,270
Ensembl chr18:50,748,041...50,759,191
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CD248
CD248 molecule
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,991,552...50,994,185
Ensembl chr18:50,991,585...50,994,179
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CDC42EP2
CDC42 effector protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,854,975...51,863,594
Ensembl chr18:51,857,367...51,858,011
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CDK2AP2
cyclin dependent kinase 2 associated protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,969,630...49,971,781
Ensembl chr18:49,970,160...49,971,457
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CFL1
cofilin 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212
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CHKA
choline kinase alpha
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,717,512...49,784,653
Ensembl chr18:49,745,437...49,781,882
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CLCF1
cardiotrophin like cytokine factor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,084,120...50,093,825
Ensembl chr18:50,083,915...50,102,651
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CNIH2
cornichon family AMPA receptor auxiliary protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,020,263...51,026,280
Ensembl chr18:51,021,116...51,026,273
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CORO1B
coronin 1B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,027,274...50,031,601
Ensembl chr18:50,027,275...50,050,907
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CPT1A
carnitine palmitoyltransferase 1A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117
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CST6
cystatin E/M
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,263,161...51,264,816
Ensembl chr18:51,263,178...51,264,780
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CTSF
cathepsin F
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,782,326...50,787,213
Ensembl chr18:50,782,404...50,786,996
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CTSW
cathepsin W
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,381,999...51,386,277
Ensembl chr18:51,382,122...51,386,261
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DPF2
double PHD fingers 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087
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DPP3
dipeptidyl peptidase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,835,739...50,868,777
Ensembl chr18:50,835,735...50,868,682
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DRAP1
DR1 associated protein 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,350,625...51,352,742
Ensembl chr18:51,350,716...51,352,977
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EFEMP2
EGF containing fibulin extracellular matrix protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107
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EHBP1L1
EH domain binding protein 1 like 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,613,465...51,630,589
Ensembl chr18:51,614,425...51,630,315
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EIF1AD
eukaryotic translation initiation factor 1A domain containing
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,271,850...51,276,215
Ensembl chr18:51,272,855...51,274,487
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FADD
Fas associated via death domain
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:48,087,447...48,094,497
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FAM89B
family with sequence similarity 89 member B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,632,509...51,634,218
Ensembl chr18:51,632,781...51,634,034
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FGF19
fibroblast growth factor 19
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:48,464,931...48,469,967
Ensembl chr18:48,464,928...48,469,782
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FGF3
fibroblast growth factor 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009
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FGF4
fibroblast growth factor 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:48,413,480...48,417,494
Ensembl chr18:48,413,187...48,416,977
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FIBP
FGF1 intracellular binding protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,377,757...51,381,872
Ensembl chr18:51,377,797...51,381,808
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FOSL1
FOS like 1, AP-1 transcription factor subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748
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FRMD8
FERM domain containing 8
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,782,664...51,807,343
Ensembl chr18:51,784,413...51,806,874
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GAL
galanin and GMAP prepropeptide
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,240,437...49,246,543
Ensembl chr18:49,240,437...49,246,950
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GAL3ST3
galactose-3-O-sulfotransferase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,215,280...51,222,962
Ensembl chr18:51,219,156...51,222,418
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GPR152
G protein-coupled receptor 152
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,019,898...50,022,587
Ensembl chr18:50,020,286...50,021,695
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GRK2
G protein-coupled receptor kinase 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428
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GSTP1
glutathione S-transferase pi 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
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IGHMBP2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,063,748...49,090,625
Ensembl chr18:49,064,609...49,091,453
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KAT5
lysine acetyltransferase 5
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:25741868 PMID:28492532 PMID:28600438
NCBI chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699
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KCNK7
potassium two pore domain channel subfamily K member 7
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,609,373...51,613,802
Ensembl chr18:51,610,746...51,613,675
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KDM2A
lysine demethylase 2A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,178,511...50,294,097
Ensembl chr18:50,181,024...50,291,127
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KLC2
kinesin light chain 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,035,013...51,045,629
Ensembl chr18:51,035,705...51,045,595
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KMT5B
lysine methyltransferase 5B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,655,783...49,691,899
Ensembl chr18:49,637,610...49,827,034
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LOC611806
aldehyde dehydrogenase family 3 member B2-like
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,856,341...49,860,263
Ensembl chr18:49,853,737...49,859,927
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LOC611847
DNA polymerase delta 4, accessory subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,101,211...50,103,045
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LRFN4
leucine rich repeat and fibronectin type III domain containing 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,495,971...50,499,062
Ensembl chr18:50,495,971...50,499,068
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LRP5
LDL receptor related protein 5
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396
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LTBP3
latent transforming growth factor beta binding protein 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433
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LTO1
LTO1 maturation factor of ABCE1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:48,482,212...48,490,678
Ensembl chr18:48,481,955...48,490,691
G
MAP3K11
mitogen-activated protein kinase kinase kinase 11
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,593,641...51,609,245
Ensembl chr18:51,594,274...51,608,696
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MRGPRD
MAS related GPR family member D
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,028,149...49,029,198
Ensembl chr18:49,028,149...49,029,198
G
MRGPRF
MAS related GPR family member F
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,006,789...49,015,080
Ensembl chr18:49,006,888...49,015,080
G
MRPL11
mitochondrial ribosomal protein L11
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,890,411...50,893,891
Ensembl chr18:50,890,413...50,893,767
G
MRPL21
mitochondrial ribosomal protein L21
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,090,521...49,104,052
Ensembl chr18:49,090,689...49,104,051
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MUS81
MUS81 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,396,980...51,404,563
Ensembl chr18:51,396,980...51,402,534
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NDUFS8
NADH:ubiquinone oxidoreductase core subunit S8
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,796,558...49,800,805
Ensembl chr18:49,796,560...49,799,979
G
NDUFV1
NADH:ubiquinone oxidoreductase core subunit V1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,882,844...49,888,448
Ensembl chr18:49,882,907...49,888,434
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NPAS4
neuronal PAS domain protein 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,905,614...50,912,119
Ensembl chr18:50,905,611...50,911,086
G
NUDT8
nudix hydrolase 8
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,874,630...49,876,703
G
OVOL1
ovo like transcriptional repressor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,454,170...51,465,189
Ensembl chr18:51,455,107...51,464,847
G
PACS1
phosphofurin acidic cluster sorting protein 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,055,487...51,196,223
Ensembl chr18:51,056,429...51,196,102
G
PC
pyruvate carboxylase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669
G
PCNX3
pecanex 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,572,004...51,592,811
Ensembl chr18:51,571,452...51,592,104
G
PELI3
pellino E3 ubiquitin protein ligase family member 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,870,483...50,881,089
Ensembl chr18:50,872,426...50,879,826
G
PITPNM1
phosphatidylinositol transfer protein membrane associated 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,972,970...49,985,995
Ensembl chr18:49,974,093...49,985,909
G
POLA2
DNA polymerase alpha 2, accessory subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,875,860...51,904,492
Ensembl chr18:51,875,903...51,904,746
G
PPP1CA
protein phosphatase 1 catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,062,352...50,065,166
Ensembl chr18:50,062,352...50,065,166
G
PPP6R3
protein phosphatase 6 regulatory subunit 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,287,571...49,432,503
Ensembl chr18:49,289,044...49,385,656
G
PTPRCAP
protein tyrosine phosphatase receptor type C associated protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,031,740...50,034,200
Ensembl chr18:50,027,275...50,050,907
G
RAB1B
RAB1B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,026,975...51,034,356
Ensembl chr18:51,028,013...51,034,473
G
RAD9A
RAD9 checkpoint clamp component A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,065,154...50,070,582
Ensembl chr18:50,065,685...50,070,710
G
RBM14
RNA binding motif protein 14
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,683,227...50,728,512
Ensembl chr18:50,705,024...50,811,319
G
RBM4B
RNA binding motif protein 4B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,676,138...50,686,061
Ensembl chr18:50,676,162...50,685,573
G
RCE1
Ras converting CAAX endopeptidase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,509,426...50,512,575
Ensembl chr18:50,509,768...50,517,543
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
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RHOD
ras homolog family member D
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,320,428...50,330,108
Ensembl chr18:50,321,400...50,330,103
G
RIN1
Ras and Rab interactor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,975,002...50,982,052
Ensembl chr18:50,975,814...50,980,381
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RNASEH2C
ribonuclease H2 subunit C
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:23322642 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28600438 PMID:29150899 PMID:29239743 PMID:29389947 PMID:30315573 PMID:31130681 PMID:31529068 PMID:32404165 PMID:34008892 PMID:34055681 PMID:34302356 More...
NCBI chr18:51,498,282...51,501,844
Ensembl chr18:51,498,308...51,499,541
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RPS6KB2
ribosomal protein S6 kinase B2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,034,318...50,039,892
Ensembl chr18:50,034,364...50,040,250
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SART1
spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,297,419...51,313,804
Ensembl chr18:51,297,419...51,313,793
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SCYL1
SCY1 like pseudokinase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,667,647...51,680,904
Ensembl chr18:51,667,790...51,681,090
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SF3B2
splicing factor 3b subunit 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354
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SIPA1
signal-induced proliferation-associated 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,560,551...51,571,291
Ensembl chr18:51,560,551...51,568,885
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SLC25A45
solute carrier family 25 member 45
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,810,842...51,817,230
Ensembl chr18:51,811,039...51,816,094
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SLC29A2
solute carrier family 29 member 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,946,647...50,955,085
Ensembl chr18:50,946,724...50,954,413
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SNX32
sorting nexin 32
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,408,460...51,423,440
Ensembl chr18:51,408,983...51,423,410
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SPTBN2
spectrin beta, non-erythrocytic 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,631,053...50,670,428
Ensembl chr18:50,631,909...50,669,916
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SSH3
slingshot protein phosphatase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,126,646...50,134,799
Ensembl chr18:50,126,663...50,134,729
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SYT12
synaptotagmin 12
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,334,779...50,358,113
Ensembl chr18:50,336,042...50,351,333
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TBC1D10C
TBC1 domain family member 10C
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,055,376...50,062,166
Ensembl chr18:50,055,363...50,061,173
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TBX10
T-box transcription factor 10
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,870,618...49,873,452
Ensembl chr18:49,866,920...49,873,190
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TCIRG1
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317
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TESMIN
testis expressed metallothionein like protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,191,265...49,232,030
Ensembl chr18:49,191,211...49,230,576
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TIGD3
tigger transposable element derived 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,827,870...51,829,746
Ensembl chr18:51,828,247...51,829,665
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TMEM134
transmembrane protein 134
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,003,556...50,008,748
Ensembl chr18:50,003,109...50,008,745
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TMEM151A
transmembrane protein 151A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,008,288...51,013,091
Ensembl chr18:51,009,415...51,013,181
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TOP6BL
TOP6B like initiator of meiotic double strand breaks
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,512,681...50,617,666
Ensembl chr18:50,549,497...50,560,943
G
TPCN2
two pore segment channel 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:48,956,833...48,984,499
Ensembl chr18:48,957,249...48,984,564
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TSGA10IP
testis specific 10 interacting protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,315,150...51,323,769
Ensembl chr18:51,314,177...51,323,718
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UNC93B1
unc-93 homolog B1, TLR signaling regulator
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:49,826,044...49,835,417
Ensembl chr18:49,826,026...49,882,461
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YIF1A
Yip1 interacting factor homolog A, membrane trafficking protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:51,015,575...51,019,909
Ensembl chr18:51,015,641...51,019,901
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ZDHHC24
zinc finger DHHC-type containing 24
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr18:50,801,179...50,808,480
Ensembl chr18:50,801,303...50,806,877
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ZNRD2
zinc ribbon domain containing 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr18:51,634,946...51,636,330
Ensembl chr18:51,634,892...51,637,087
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DNASE2
deoxyribonuclease 2, lysosomal
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:28492532
NCBI chr20:49,299,236...49,301,815
Ensembl chr20:49,299,406...49,301,814
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GCDH
glutaryl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:28492532
NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
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KLF1
KLF transcription factor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:28492532
NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602
G
MAST1
microtubule associated serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:28492532
NCBI chr20:49,302,037...49,329,247
Ensembl chr20:49,302,162...49,329,837
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RNASEH2A
ribonuclease H2 subunit A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition
OMIM ClinVar
PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25500883 PMID:25604658 PMID:25741868 PMID:25741916 PMID:26182405 PMID:26467025 PMID:27943079 PMID:28492532 PMID:28600779 PMID:29239743 PMID:31130284 PMID:31130681 PMID:31529068 PMID:37626525 More...
NCBI chr20:49,345,258...49,352,944
Ensembl chr20:49,345,266...49,355,167
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RTBDN
retbindin
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:28492532
NCBI chr20:49,324,843...49,337,226
Ensembl chr20:49,334,127...49,337,223
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SYCE2
synaptonemal complex central element protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:28492532
NCBI chr20:49,267,985...49,285,986
Ensembl chr20:49,281,773...49,283,880
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BLCAP
BLCAP apoptosis inducing factor
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr24:26,115,356...26,125,963
Ensembl chr24:26,116,887...26,117,150
G
CTNNBL1
catenin beta like 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr24:26,253,884...26,415,166
Ensembl chr24:26,253,962...26,415,163
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GHRH
growth hormone releasing hormone
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712
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MANBAL
mannosidase beta like
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr24:25,921,827...25,947,363
Ensembl chr26:9,823,398...9,823,589
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MROH8
maestro heat like repeat family member 8
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr24:25,768,115...25,827,848
Ensembl chr24:25,770,731...25,828,080
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NNAT
neuronatin
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr24:26,119,153...26,121,573
Ensembl chr24:26,118,991...26,120,906
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RBL1
RB transcriptional corepressor like 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr24:25,698,313...25,757,358
Ensembl chr24:25,699,638...25,757,229
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RPN2
ribophorin II
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr24:25,827,524...25,884,813
Ensembl chr24:25,827,450...25,955,742
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SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:21402907 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24300241 PMID:24316776 PMID:24989684 PMID:25604658 PMID:25640679 PMID:25741868 PMID:25741895 PMID:26273690 PMID:26431200 PMID:26467025 PMID:26504826 PMID:27604406 PMID:27643693 PMID:27943079 PMID:28229507 PMID:28454995 PMID:28492532 PMID:28851465 PMID:29239743 PMID:29379009 PMID:29758562 PMID:30275001 PMID:30487145 PMID:31130681 PMID:31797533 PMID:32371413 PMID:33683010 PMID:33857133 PMID:34492268 PMID:35590234 More...
NCBI chr24:25,623,997...25,676,336
Ensembl chr24:25,626,134...25,680,902
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SRC
SRC proto-oncogene, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077
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TLDC2
TBC/LysM-associated domain containing 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:25741868 PMID:28492532
NCBI chr24:25,602,002...25,623,273
Ensembl chr24:25,610,851...25,623,803
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ADAR
adenosine deaminase RNA specific
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6
OMIM ClinVar
PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 PMID:16817193 PMID:17576681 PMID:19017046 PMID:19060901 PMID:20301648 PMID:22974014 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25243380 PMID:25326637 PMID:25456137 PMID:25468572 PMID:25604658 PMID:25741868 PMID:25982145 PMID:26372505 PMID:26629815 PMID:26802932 PMID:27937139 PMID:28139822 PMID:28492532 PMID:28561207 PMID:29185800 PMID:29221912 PMID:29536976 PMID:29603717 PMID:29691679 PMID:29775506 PMID:29915444 PMID:30564185 PMID:30755392 PMID:31772029 PMID:32593192 PMID:32801363 PMID:32996714 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 PMID:35859177 More...
NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
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IFIH1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7
OMIM ClinVar
PMID:16199547 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:28319323 PMID:28475458 PMID:28492532 PMID:28605144 PMID:28716935 PMID:29782060 PMID:30219631 PMID:30593198 PMID:30965144 PMID:31178897 PMID:31898846 PMID:34185153 PMID:34539730 PMID:35754802 More...
NCBI chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048
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LSM11
LSM11, U7 small nuclear RNA associated
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8
OMIM ClinVar
PMID:33230297
NCBI chr 4:52,532,660...52,546,273
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C27H12orf57
chromosome 27 C12orf57 homolog
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9
ClinVar
PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297
NCBI chr27:38,101,705...38,103,553
Ensembl chr27:38,101,786...38,127,910 Ensembl chr27:38,101,786...38,127,910
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DCAF17
DDB1 and CUL4 associated factor 17
ISO
ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr36:15,906,013...15,961,318
Ensembl chr36:15,905,085...15,938,910
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UBQLN2
ubiquilin 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15
OMIM ClinVar
PMID:19377476 PMID:21857683 PMID:22560112 PMID:22892309 PMID:23138764 PMID:23312802 PMID:24215460 PMID:24771548 PMID:25333069 PMID:25398946 PMID:25616961 PMID:25741868 PMID:26075709 PMID:26467025 PMID:28492532 PMID:28716533 PMID:30348461 PMID:34273246 PMID:35896380 More...
NCBI chr X:47,860,923...47,864,282
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TUBA4A
tubulin alpha 4a
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22
OMIM ClinVar
PMID:25374358 PMID:25741868
NCBI chr37:25,799,075...25,803,257
Ensembl chr37:25,796,107...25,802,892
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FUS
FUS RNA binding protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
OMIM ClinVar
PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 PMID:19251627 PMID:19251628 PMID:19450904 PMID:19741215 PMID:19741216 PMID:19861302 PMID:20018407 PMID:20124201 PMID:20138404 PMID:20142531 PMID:20224596 PMID:20232451 PMID:20385912 PMID:20472325 PMID:20544928 PMID:20577002 PMID:20579074 PMID:20598774 PMID:20606625 PMID:20621307 PMID:20655970 PMID:20660363 PMID:20668259 PMID:20668261 PMID:20674093 PMID:20699327 PMID:21109527 PMID:21128870 PMID:21158017 PMID:21261515 PMID:21280085 PMID:21487023 PMID:21604077 PMID:21881207 PMID:21907581 PMID:21943958 PMID:21949354 PMID:21965298 PMID:22055719 PMID:22292843 PMID:22340366 PMID:22722621 PMID:22863194 PMID:22980027 PMID:23046859 PMID:23056579 PMID:23085990 PMID:23217123 PMID:23257289 PMID:23474818 PMID:23545117 PMID:23577159 PMID:23731953 PMID:23834335 PMID:23834483 PMID:23881933 PMID:24033266 PMID:24036913 PMID:24080306 PMID:24204307 PMID:24262168 PMID:24280224 PMID:24439481 PMID:24575823 PMID:24738488 PMID:24899262 PMID:24908169 PMID:25173930 PMID:25274782 PMID:25289647 PMID:25324524 PMID:25382069 PMID:25457557 PMID:25525159 PMID:25558820 PMID:25585530 PMID:25625564 PMID:25631824 PMID:25681989 PMID:25741868 PMID:26251528 PMID:26452761 PMID:26467025 PMID:26500017 PMID:26601740 PMID:26725112 PMID:26788680 PMID:26795035 PMID:27123482 PMID:27604643 PMID:28273913 PMID:28288521 PMID:28429524 PMID:28430856 PMID:28492532 PMID:28642336 PMID:29525178 PMID:29547565 PMID:30279455 PMID:30349096 PMID:30455313 PMID:30507891 PMID:30747709 PMID:30879340 PMID:31069529 PMID:31475037 PMID:31630970 PMID:31682085 PMID:31692161 PMID:32038460 PMID:32116048 PMID:32638105 PMID:32951934 PMID:33082139 PMID:33159016 PMID:34518945 More...
NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178
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VCP
valosin containing protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
ClinVar
PMID:30103325
NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
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PARK7
Parkinsonism associated deglycase
ISO
ClinVar Annotator: match by term: Guam disease
ClinVar
PMID:25741868
NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303
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TRPM7
transient receptor potential cation channel subfamily M member 7
susceptibility no_association
ISO
ClinVar Annotator: match by term: Guam disease DNA:mutation:cds: p.T1482I (human)
OMIM ClinVar RGD
PMID:19405049 PMID:25741868 PMID:28492532
RGD:5685008
NCBI chr30:16,465,546...16,579,874
Ensembl chr30:16,466,234...16,579,594
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GBA1
glucosylceramidase beta 1
ISO
ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease
ClinVar
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:2117855 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7789963 PMID:7981693 PMID:8160756 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8929950 PMID:9375849 PMID:9554746 PMID:9556036 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11336129 PMID:12482401 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:16293621 PMID:16967369 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24522292 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25456120 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25741914 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31130284 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
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SNCA
synuclein alpha
ISO
ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease
ClinVar
PMID:25393002 PMID:25741868 PMID:28492532
NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
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SNCB
synuclein beta
ISO
ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease
ClinVar
PMID:15365127 PMID:21045828 PMID:25741868 PMID:26332674 PMID:31589614 PMID:33760043 More...
NCBI chr 4:36,710,236...36,719,455
Ensembl chr 4:36,616,039...36,764,501
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PDGFRB
platelet derived growth factor receptor beta
ISO
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483
MouseDO
NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
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SLC20A2
solute carrier family 20 member 2
ISO
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483
MouseDO
NCBI chr16:23,165,347...23,268,115
Ensembl chr16:23,200,798...23,267,775
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GSN
gelsolin
severity
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:23142649
RGD:329333032
NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129
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MT-ND6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO
ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia
ClinVar
PMID:12205655 PMID:14520668 PMID:14595656 PMID:16337195 PMID:32906214 PMID:35715829 More...
NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109
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LOC486150
thiamine transporter 2-like
ISO
ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease
ClinVar
NCBI chr25:40,363,786...40,405,942
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LOC486151
thiamine transporter 2
ISO
ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease | ClinVar Annotator: match by term: Biotin-thiamine-responsive basal ganglia disease | ClinVar Annotator: match by term: thiamine-responsive encephalopathy
OMIM ClinVar
PMID:9536098 PMID:15871139 PMID:16199547 PMID:16790503 PMID:17576681 PMID:19387023 PMID:20065143 PMID:22777947 PMID:23423671 PMID:23482991 PMID:23589815 PMID:23742248 PMID:24166474 PMID:24372704 PMID:24667528 PMID:24957181 PMID:25741868 PMID:25741909 PMID:25741914 PMID:26077850 PMID:26443248 PMID:26467025 PMID:26657515 PMID:26863430 PMID:26938784 PMID:26975589 PMID:27290639 PMID:27749535 PMID:27841215 PMID:27896110 PMID:27905264 PMID:28492532 PMID:28518168 PMID:28677371 PMID:28696212 PMID:28832562 PMID:28856750 PMID:29101630 PMID:29236641 PMID:29287834 PMID:29453417 PMID:32034746 PMID:32461654 PMID:32600842 PMID:32679198 PMID:34276785 More...
NCBI chr25:40,411,489...40,442,183
Ensembl chr25:40,412,427...40,438,042
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MECR
mitochondrial trans-2-enoyl-CoA reductase
ISO
ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 PMID:31070877 PMID:31137067 PMID:31160820 PMID:32313153 PMID:32445240 PMID:33401012 PMID:34052969 PMID:37734847 More...
NCBI chr 2:71,369,768...71,400,499
Ensembl chr 2:71,369,806...71,400,499
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SLC6A3
solute carrier family 6 member 3
ISO
ClinVar Annotator: match by term: Classic dopamine transporter deficiency syndrome | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 1
OMIM ClinVar
PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 PMID:16212992 PMID:18614672 PMID:19478460 PMID:19590515 PMID:20427663 PMID:21112253 PMID:22279524 PMID:22495311 PMID:23979605 PMID:24613933 PMID:25313507 PMID:25331903 PMID:25741436 PMID:25741868 PMID:26931468 PMID:28492532 PMID:29559554 More...
NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742
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ACTA2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753
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B9D2
B9 domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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CASP3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
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COMMD1
copper metabolism domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr10:61,886,281...62,059,610
Ensembl chr10:61,886,281...62,059,591
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HGF
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
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KRT19
keratin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 9:21,240,778...21,245,039
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KRT7
keratin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr27:2,812,709...2,827,451
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
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MKI67
marker of proliferation Ki-67
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
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SMAD2
SMAD family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983
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STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22879914
NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
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AHRR
aryl hydrocarbon receptor repressor
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,820,119...11,865,681
Ensembl chr34:11,820,473...11,867,821
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BRD9
bromodomain containing 9
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,541,005...11,564,760
Ensembl chr34:11,540,481...11,564,536
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CEP72
centrosomal protein 72
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,639,794...11,684,041
Ensembl chr34:11,649,221...11,685,767
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CLPTM1L
CLPTM1 like
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436
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EXOC3
exocyst complex component 3
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,790,927...11,811,566
Ensembl chr34:11,791,926...11,811,561
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IRX4
iroquois homeobox 4
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:10,926,042...10,929,142
Ensembl chr34:10,923,097...10,929,164
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LPCAT1
lysophosphatidylcholine acyltransferase 1
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,162,715...11,195,380
Ensembl chr34:11,164,615...11,193,681
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MRPL36
mitochondrial ribosomal protein L36
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,000,509...11,002,204
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NDUFS6
NADH:ubiquinone oxidoreductase subunit S6
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:10,989,857...10,999,232
Ensembl chr34:10,989,828...11,001,053
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NKD2
NKD inhibitor of WNT signaling pathway 2
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,447,895...11,468,067
Ensembl chr34:11,447,888...11,459,509
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PDCD6
programmed cell death 6
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,909,657...11,929,850
Ensembl chr34:11,909,934...11,929,855
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SDHA
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
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SLC12A7
solute carrier family 12 member 7
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,411,521...11,442,175
Ensembl chr34:11,411,626...11,440,957
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SLC6A18
solute carrier family 6 member 18
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,312,172...11,327,493
Ensembl chr34:11,290,166...11,327,505
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SLC6A19
solute carrier family 6 member 19
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,329,126...11,344,248
Ensembl chr34:11,329,111...11,344,293
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SLC6A3
solute carrier family 6 member 3
ISO
ClinVar Annotator: match by term: DOPAMINE TRANSPORTER DEFICIENCY SYNDROME | ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:9536098 PMID:10889530 PMID:16103889 PMID:16171832 PMID:16199547 PMID:16212992 PMID:17576681 PMID:18614672 PMID:19590515 PMID:20427663 PMID:21112253 PMID:22279524 PMID:22495311 PMID:22514303 PMID:23436987 PMID:23979605 PMID:24613933 PMID:25313507 PMID:25331903 PMID:25741436 PMID:25741868 PMID:25747272 PMID:25774383 PMID:26931468 PMID:28263315 PMID:28492532 PMID:29559554 More...
NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742
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SLC9A3
solute carrier family 9 member A3
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,748,556...11,785,209
Ensembl chr34:11,748,175...11,785,786
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TERT
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
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TPPP
tubulin polymerization promoting protein
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,633,054...11,645,585
Ensembl chr34:11,629,378...11,642,639
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TRIP13
thyroid hormone receptor interactor 13
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,522,940...11,539,885
Ensembl chr34:11,522,940...11,539,885
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ZDHHC11
zinc finger DHHC-type containing 11
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile
ClinVar
PMID:21112253 PMID:28492532
NCBI chr34:11,567,784...11,614,975
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ABCA7
ATP binding cassette subfamily A member 7
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868 PMID:26101835 PMID:28097223 PMID:28400126 PMID:28789839 PMID:30924900 PMID:31836585 More...
NCBI chr20:57,668,371...57,684,111
Ensembl chr20:57,667,706...57,677,342
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ARSA
arylsulfatase A
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:1353340 PMID:10477432 PMID:12809637 PMID:16678723 PMID:18693274 PMID:18786133 PMID:19606494 PMID:23559313 PMID:25741868 PMID:25965562 PMID:26131420 PMID:26462614 PMID:28492532 PMID:31694723 PMID:33855715 More...
NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398
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BACE2
beta-secretase 2
ISO
mRNA,protein, activity:increased expression, increased activity:gyrus:
RGD
PMID:22074738
RGD:13782172
NCBI chr31:35,714,003...35,760,686
Ensembl chr31:35,713,149...35,760,681
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CCNF
cyclin F
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435
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CHMP2B
charged multivesicular body protein 2B
no_association
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
RGD ClinVar
PMID:16979267 PMID:25741868 PMID:26467025 PMID:28492532
RGD:5688721
NCBI chr31:789,586...817,925
Ensembl chr31:791,139...817,895
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CHRNA4
cholinergic receptor nicotinic alpha 4 subunit
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:28492532
NCBI chr24:47,024,948...47,036,507
Ensembl chr24:47,025,187...47,042,266
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CHRNB4
cholinergic receptor nicotinic beta 4 subunit
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
NCBI chr13:38,312,537...38,327,242
Ensembl chr13:38,312,173...38,328,341
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CRHR1
corticotropin releasing hormone receptor 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:18628315 PMID:21094706 PMID:28492532
NCBI chr 9:9,708,696...9,763,281
Ensembl chr 9:9,714,204...9,763,402
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CSF1R
colony stimulating factor 1 receptor
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868 PMID:26476772 PMID:28492532 PMID:31836585
NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
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DCTN1
dynactin subunit 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868 PMID:28492532 PMID:35873773
NCBI chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147
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ERBB4
erb-b2 receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:28492532 PMID:35873773
NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
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FUS
FUS RNA binding protein
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:22863194 PMID:25382069 PMID:25558820 PMID:25741868 PMID:26467025 PMID:28430856 PMID:28492532 PMID:30279455 PMID:32638105 More...
NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178
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GLT8D1
glycosyltransferase 8 domain containing 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
NCBI chr20:37,093,826...37,103,213
Ensembl chr20:37,093,653...37,103,211
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GRN
granulin precursor
ISO
ClinVar Annotator: match by term: Dementia, hereditary dysphasic disinhibition | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: GRN-Related Frontotemporal Dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
ClinVar
PMID:9536098 PMID:16199547 PMID:16862116 PMID:16950801 PMID:17030534 PMID:17228326 PMID:17371905 PMID:17576681 PMID:18183624 PMID:18184915 PMID:18192287 PMID:18234697 PMID:18314228 PMID:18543312 PMID:18565828 PMID:18723524 PMID:18838661 PMID:19020205 PMID:19158106 PMID:19683260 PMID:20020531 PMID:20028451 PMID:20045477 PMID:20142524 PMID:21403024 PMID:21482928 PMID:21800185 PMID:22312439 PMID:22491866 PMID:22608501 PMID:22781549 PMID:23463024 PMID:23684369 PMID:23724906 PMID:23742080 PMID:23759146 PMID:24503614 PMID:25104557 PMID:25525159 PMID:25741868 PMID:26159191 PMID:26467025 PMID:26652843 PMID:27632209 PMID:27790088 PMID:27997711 PMID:28430294 PMID:28492532 PMID:28749476 PMID:29724592 PMID:30054184 PMID:30279455 PMID:30992141 PMID:31031559 PMID:31600775 PMID:33980708 PMID:34162492 PMID:34435519 PMID:35896380 More...
NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268
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HNRNPA2B1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:23455423 PMID:25741868
NCBI chr14:39,498,805...39,509,034
Ensembl chr14:39,500,897...39,508,952
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KANSL1
KAT8 regulatory NSL complex subunit 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:18628315 PMID:21094706 PMID:28492532
Ensembl chr 9:9,381,737...9,565,976 Ensembl chr 9:9,381,737...9,565,976
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LRRK2
leucine rich repeat kinase 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870
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MAPT
microtubule associated protein tau
no_association
ISO
DNA:haplotype ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
RGD ClinVar OMIM
PMID:1416801 PMID:2273997 PMID:7783864 PMID:7936288 PMID:7977375 PMID:8673924 PMID:8926492 PMID:8940276 PMID:9088499 PMID:9382467 PMID:9392579 PMID:9536098 PMID:9629852 PMID:9636220 PMID:9641683 PMID:9736786 PMID:9789048 PMID:9824291 PMID:9973279 PMID:10076890 PMID:10100642 PMID:10202939 PMID:10208578 PMID:10214944 PMID:10219785 PMID:10318930 PMID:10329720 PMID:10374757 PMID:10412802 PMID:10443890 PMID:10446810 PMID:10489057 PMID:10514099 PMID:10553987 PMID:10604746 PMID:10624829 PMID:10627302 PMID:10767321 PMID:10775534 PMID:10797541 PMID:10802785 PMID:10820221 PMID:10821687 PMID:10822460 PMID:10932182 PMID:11013246 PMID:11032905 PMID:11071507 PMID:11102510 PMID:11115852 PMID:11117541 PMID:11117542 PMID:11117553 PMID:11159174 PMID:11255441 PMID:11278002 PMID:11402146 PMID:11456301 PMID:11641718 PMID:11708988 PMID:11756436 PMID:11756496 PMID:11889249 PMID:11891833 PMID:11912108 PMID:11921059 PMID:11971081 PMID:11971082 PMID:12325083 PMID:12368474 PMID:12473404 PMID:12473774 PMID:12509859 PMID:12615641 PMID:12722177 PMID:12796837 PMID:12847166 PMID:12876142 PMID:14517953 PMID:14568818 PMID:14755449 PMID:15047590 PMID:15178938 PMID:15178940 PMID:15365985 PMID:15372253 PMID:15376481 PMID:15489396 PMID:15765246 PMID:15831501 PMID:15883319 PMID:15940384 PMID:16219306 PMID:16240366 PMID:16416390 PMID:16477083 PMID:16495230 PMID:16495329 PMID:16503405 PMID:17071927 PMID:17186252 PMID:17386961 PMID:17526496 PMID:17576681 PMID:17923640 PMID:18067537 PMID:18093153 PMID:18284428 PMID:18525295 PMID:18587238 PMID:18628315 PMID:18803694 PMID:18851693 PMID:18854867 PMID:18992292 PMID:19091059 PMID:19263483 PMID:19304664 PMID:19365643 PMID:19458322 PMID:19659892 PMID:19766248 PMID:19786698 PMID:19884572 PMID:19914360 PMID:20045477 PMID:20377816 PMID:20561037 PMID:20598713 PMID:20634584 PMID:21094706 PMID:21176711 PMID:21339331 PMID:21343707 PMID:21344240 PMID:21558644 PMID:21849646 PMID:22022446 PMID:22118943 PMID:22312439 PMID:22556362 PMID:22595371 PMID:22723997 PMID:22787795 PMID:22818528 PMID:22906081 PMID:23043292 PMID:23047372 PMID:23053136 PMID:23105105 PMID:23338682 PMID:23383383 PMID:23518664 PMID:23680655 PMID:23692670 PMID:23727082 PMID:23752245 PMID:23881933 PMID:23885714 PMID:23990795 PMID:24018212 PMID:24081456 PMID:24121548 PMID:24150109 PMID:25319522 PMID:25466404 PMID:25592136 PMID:25604855 PMID:25617006 PMID:25671699 PMID:25683866 PMID:25741868 PMID:25937274 PMID:25942996 PMID:26028272 PMID:26136155 PMID:26200045 PMID:26220942 PMID:26269332 PMID:26295349 PMID:26297556 PMID:26333800 PMID:26426266 PMID:26467025 PMID:26519432 PMID:26601740 PMID:26931567 PMID:27082848 PMID:27094865 PMID:27439681 PMID:27582388 PMID:27594586 PMID:27606344 PMID:27641626 PMID:27776828 PMID:27802239 PMID:27975259 PMID:28097206 PMID:28130473 PMID:28268100 PMID:28334843 PMID:28462717 PMID:28492532 PMID:28923025 PMID:29091718 PMID:29253099 PMID:29525180 PMID:30090657 PMID:30279455 PMID:30528841 PMID:31059154 PMID:31404212 PMID:31542321 PMID:31836585 PMID:32028661 PMID:32171587 PMID:32843152 PMID:32961270 PMID:33006106 PMID:33580635 PMID:33612544 PMID:33772783 PMID:34274155 PMID:34561610 PMID:35020237 More...
RGD:8158108
NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
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MARCHF4
membrane associated ring-CH-type finger 4
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:29476165
NCBI chr37:23,218,664...23,330,115
Ensembl chr37:23,220,458...23,330,077
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MASP2
MBL associated serine protease 2
ISO
ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
ClinVar
PMID:24033266 PMID:28492532
NCBI chr 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797
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MEF2C
myocyte enhancer factor 2C
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
NCBI chr 3:19,778,997...19,948,203
Ensembl chr 3:19,779,007...19,943,852
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MOBP
myelin associated oligodendrocyte basic protein
disease_progression
ISO
DNA:SNP: :rs1768208(human)
RGD
PMID:24994843
RGD:27226701
NCBI chr23:9,121,277...9,176,128
Ensembl chr23:9,121,319...9,161,972
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NEFL
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:29391125
RGD:127285384
NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
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OPTN
optineurin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
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POU1F1
POU class 1 homeobox 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr31:769,454...788,761
Ensembl chr31:769,487...787,626
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PRKN
parkin RBR E3 ubiquitin protein ligase
disease_progression
ISO
RGD
PMID:18817929
RGD:10412726
NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
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PSEN1
presenilin 1
ISO
ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
OMIM ClinVar
PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 PMID:8905716 PMID:8962160 PMID:8986743 PMID:9521423 PMID:9804121 PMID:10327206 PMID:11094121 PMID:11389157 PMID:11524469 PMID:11895378 PMID:12399144 PMID:12433263 PMID:12549925 PMID:14769392 PMID:15776278 PMID:17431506 PMID:18045903 PMID:19111578 PMID:20049724 PMID:20157243 PMID:20301414 PMID:20332427 PMID:20634584 PMID:21559374 PMID:22242180 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22956200 PMID:23638752 PMID:24463146 PMID:24559647 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25741868 PMID:26337232 PMID:26467025 PMID:26756738 PMID:27264813 PMID:27930341 PMID:28269784 PMID:28492532 PMID:30054184 PMID:30279455 PMID:31153663 PMID:31235249 PMID:31914229 PMID:32087291 PMID:32917274 PMID:35949106 More...
NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532
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RNASE4
ribonuclease, RNase A family, 4
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:17,981,661...17,998,644
Ensembl chr15:17,981,647...18,004,631
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SETX
senataxin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:26467025 PMID:28492532
NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833
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SPPL2C
signal peptide peptidase like 2C
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:18628315 PMID:21094706 PMID:28492532
NCBI chr 9:9,703,119...9,705,300
Ensembl chr 9:9,703,230...9,705,212
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TARDBP
TAR DNA binding protein
ISO
ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
ClinVar
PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 PMID:24033266 PMID:26467025 PMID:28492532 More...
NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593
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TM2D3
TM2 domain containing 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868
NCBI chr 3:39,421,763...39,434,014
Ensembl chr 3:39,421,549...39,511,268
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TNK1
tyrosine kinase non receptor 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868
NCBI chr 5:32,320,029...32,326,829
Ensembl chr 5:32,321,272...32,326,158
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TREML1
triggering receptor expressed on myeloid cells like 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:23582655 PMID:24119542 PMID:25186855 PMID:25741868 PMID:28492532 PMID:29723869 More...
NCBI chr12:9,915,692...9,928,322
Ensembl chr12:9,915,677...9,928,174
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VCP
valosin containing protein
ISO
OMIM:600274
MouseDO
NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
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VPS13C
vacuolar protein sorting 13 homolog C
ISO
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar
PMID:25741868 PMID:26942284 PMID:28492532 PMID:29770609 PMID:31836585 PMID:34875562 More...
NCBI chr30:26,600,181...26,776,347
Ensembl chr30:26,601,513...26,776,763
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ADAM10
ADAM metallopeptidase domain 10
ISO
ClinVar Annotator: match by term: Corticobasal syndrome
ClinVar
PMID:25741868
NCBI chr30:23,605,724...23,732,038
Ensembl chr30:23,606,517...23,731,823
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C9orf72
C9orf72-SMCR8 complex subunit
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
ClinVar
NCBI chr11:45,664,942...45,688,777
Ensembl chr11:45,666,293...45,688,780
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TTC3
tetratricopeptide repeat domain 3
ISO
ClinVar Annotator: match by term: Corticobasal syndrome
ClinVar
PMID:25741868
NCBI chr31:32,239,895...32,348,182
Ensembl chr31:32,213,438...32,347,195
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ADAMTS2
ADAM metallopeptidase with thrombospondin type 1 motif 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr11:2,279,983...2,504,630
Ensembl chr11:2,280,108...2,502,635
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C9orf72
C9orf72-SMCR8 complex subunit
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:45,664,942...45,688,777
Ensembl chr11:45,666,293...45,688,780
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CANX
calnexin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr11:1,966,612...1,998,620
Ensembl chr11:1,927,888...1,998,604
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CBY3
chibby family member 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr11:2,014,271...2,016,704
Ensembl chr11:2,015,695...2,016,693
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GRM6
glutamate metabotropic receptor 6
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr11:2,577,988...2,598,893
Ensembl chr11:2,577,988...2,597,575
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HNRNPH1
heterogeneous nuclear ribonucleoprotein H1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr11:2,050,753...2,059,999
Ensembl chr11:2,050,871...2,059,999
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LTC4S
leukotriene C4 synthase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr11:1,893,927...1,897,028
Ensembl chr11:1,894,380...1,897,752
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MAML1
mastermind like transcriptional coactivator 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr11:1,915,622...1,927,598
Ensembl chr11:1,918,133...1,963,836
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MGAT4B
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr11:1,883,440...1,892,949
Ensembl chr11:1,882,976...1,913,145
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RUFY1
RUN and FYVE domain containing 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr11:2,062,623...2,127,613
Ensembl chr11:2,052,901...2,127,746
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SQSTM1
sequestosome 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:9536098 PMID:11473345 PMID:11992264 PMID:12374763 PMID:14584883 PMID:15125799 PMID:15146436 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16199547 PMID:16691492 PMID:16813535 PMID:17120186 PMID:17129171 PMID:17181397 PMID:17188686 PMID:17229007 PMID:17229008 PMID:17576681 PMID:18543015 PMID:18765443 PMID:19049332 PMID:19257822 PMID:19589897 PMID:20200946 PMID:20452972 PMID:20499339 PMID:21073987 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:22491873 PMID:22972638 PMID:23117207 PMID:23303844 PMID:23417734 PMID:23447461 PMID:23612225 PMID:23812289 PMID:23820649 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24486447 PMID:24642144 PMID:24899140 PMID:25241215 PMID:25382069 PMID:25433461 PMID:25512523 PMID:25664955 PMID:25681989 PMID:25708934 PMID:25741868 PMID:25796131 PMID:25852467 PMID:26208961 PMID:26412716 PMID:26467025 PMID:26601740 PMID:26627873 PMID:26713335 PMID:26836416 PMID:26925868 PMID:27156075 PMID:27158844 PMID:27163810 PMID:27275741 PMID:27545679 PMID:27554286 PMID:27594680 PMID:27631370 PMID:28003435 PMID:28430856 PMID:28492532 PMID:28642336 PMID:28709720 PMID:29411640 PMID:29457785 PMID:29525180 PMID:29599744 PMID:29895397 PMID:29959261 PMID:30120248 PMID:30154079 PMID:30638816 PMID:30679323 PMID:30842500 PMID:31108397 PMID:31434890 PMID:31859009 PMID:31914217 PMID:31996268 PMID:32028661 PMID:32385536 PMID:32397312 PMID:32409511 PMID:32579787 PMID:32843152 PMID:33125541 PMID:33601107 PMID:33973882 PMID:34009082 PMID:34020145 PMID:34307757 PMID:34774801 PMID:36515702 More...
NCBI chr11:1,859,776...1,869,289
Ensembl chr11:1,859,465...1,870,755
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ZNF879
zinc finger protein 879
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr11:2,516,118...2,551,379
Ensembl chr11:2,519,462...2,554,329
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C26H22orf15
chromosome 26 C22orf15 homolog
ISO
ClinVar Annotator: match by term: FTDALS2
ClinVar
PMID:28492532
NCBI chr26:28,744,203...28,747,320
Ensembl chr26:28,745,183...28,746,455
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CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:22535186 PMID:24934289 PMID:25113787 PMID:25155093 PMID:25193783 PMID:25261972 PMID:25348631 PMID:25428574 PMID:25576308 PMID:25681414 PMID:25700176 PMID:25726362 PMID:25741868 PMID:25833818 PMID:26152333 PMID:26224640 PMID:27810918 PMID:28069311 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29540477 PMID:29789341 PMID:30014597 PMID:31690696 PMID:33749723 More...
NCBI chr26:28,742,466...28,744,370
Ensembl chr26:28,742,526...28,744,369
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SQSTM1
sequestosome 1
ISO
ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
OMIM ClinVar
PMID:11473345 PMID:11992264 PMID:14584883 PMID:15125799 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16691492 PMID:16813535 PMID:17181397 PMID:17229007 PMID:17229008 PMID:18543015 PMID:18765443 PMID:19257822 PMID:19589897 PMID:20200946 PMID:20499339 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:22972638 PMID:23417734 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24486447 PMID:24899140 PMID:25241215 PMID:25741868 PMID:25796131 PMID:26412716 PMID:26467025 PMID:26627873 PMID:26713335 PMID:27156075 PMID:27275741 PMID:27594680 PMID:28003435 PMID:28430856 PMID:28492532 PMID:29457785 PMID:29525180 PMID:29599744 PMID:29895397 PMID:30154079 PMID:30842500 PMID:31108397 PMID:31859009 PMID:32409511 PMID:32843152 PMID:35047667 More...
NCBI chr11:1,859,776...1,869,289
Ensembl chr11:1,859,465...1,870,755
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KIF5A
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
ClinVar
PMID:25741868 PMID:28492532 PMID:32579787
NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767
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TBK1
TANK binding kinase 1
susceptibility
ISO
ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:22851595 PMID:23453972 PMID:24033266 PMID:25700176 PMID:25741868 PMID:25741909 PMID:25803835 PMID:25943890 PMID:26476236 PMID:26581300 PMID:26804609 PMID:27156075 PMID:27892983 PMID:28008748 PMID:28089114 PMID:28365590 PMID:28492532 PMID:28822984 PMID:29146049 PMID:29398122 PMID:30033073 PMID:30739198 PMID:31000212 PMID:31244341 PMID:31475037 PMID:31498468 PMID:31748271 PMID:31914217 PMID:31996268 PMID:32317127 PMID:32409511 PMID:32447396 PMID:32579787 PMID:32638105 PMID:32772249 PMID:32980182 PMID:33208543 PMID:33245169 PMID:33618928 PMID:34099552 PMID:34363755 PMID:35260199 More...
NCBI chr10:7,169,664...7,208,890
Ensembl chr10:7,168,007...7,208,899
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APTX
aprataxin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,111,003...50,155,937
Ensembl chr11:50,113,073...50,132,284
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AQP3
aquaporin 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,517,509...50,524,565
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AQP7
aquaporin 7
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,474,007...50,488,191
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ARHGEF39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,191,170...52,200,769
Ensembl chr11:52,196,462...52,200,778
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ARID3C
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,294,605...51,301,979
Ensembl chr11:51,295,030...51,301,547
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ATOSB
atos homolog B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,680,308...51,692,340
Ensembl chr11:51,681,329...51,683,969
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B4GALT1
beta-1,4-galactosyltransferase 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,223,880...50,276,745
Ensembl chr11:50,226,242...50,276,730
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BAG1
BAG cochaperone 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581
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CA9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267
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CCDC107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,194,412...52,196,817
Ensembl chr11:52,194,293...52,196,815
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CCIN
calicin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,637,580...52,640,121
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CCL19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,357,706...51,359,207
Ensembl chr11:51,340,530...51,359,365
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CCL21
C-C motif chemokine ligand 21
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,375,107...51,375,790
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CCL27
C-C motif chemokine ligand 27
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,334,870...51,338,752
Ensembl chr11:51,334,778...51,335,591
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CD72
CD72 molecule
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,170,893...52,179,035
Ensembl chr11:52,170,893...52,178,301
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CHMP5
charged multivesicular body protein 5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,363,488...50,376,081
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CIMIP2B
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,144,806...52,164,782
Ensembl chr11:52,144,801...52,146,823
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CLTA
clathrin light chain A
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,636,328...52,681,258
Ensembl chr11:52,615,039...52,681,270
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CNTFR
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,226,951...51,266,431
Ensembl chr11:51,227,509...51,245,188
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CREB3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,260,340...52,265,085
Ensembl chr11:52,260,420...52,266,515
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DCAF12
DDB1 and CUL4 associated factor 12
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,843,818...50,878,833
Ensembl chr11:50,845,773...50,878,838
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DCTN3
dynactin subunit 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,287,966...51,294,049
Ensembl chr11:51,287,967...51,294,051
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DNAI1
dynein axonemal intermediate chain 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,080,080...51,205,381
Ensembl chr11:51,106,370...51,237,467
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DNAJA1
DnaJ heat shock protein family (Hsp40) member A1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,156,089...50,168,379
Ensembl chr11:50,156,089...50,167,536
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DNAJB5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,587,728...51,596,911
Ensembl chr11:51,587,295...51,595,839
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ENHO
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,205,439...51,207,447
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EXOSC3
exosome component 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:54,072,993...54,079,024
Ensembl chr11:54,073,313...54,078,598
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FAM205A
family with sequence similarity 205 member A
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,429,911...51,436,517
Ensembl chr11:51,430,091...51,435,019
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FAM219A
family with sequence similarity 219 member A
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,092,364...51,144,324
Ensembl chr11:51,092,470...51,144,168
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FAM221B
family with sequence similarity 221 member B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,348,496...52,351,671
Ensembl chr11:52,348,231...52,356,719
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FANCG
FA complementation group G
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751
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FBXO10
F-box protein 10
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:53,833,335...53,885,416
Ensembl chr11:53,835,003...53,896,930
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FRMPD1
FERM and PDZ domain containing 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:53,901,625...54,051,885
Ensembl chr11:53,939,807...54,051,756
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GALT
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,319,812...51,323,337
Ensembl chr11:51,319,347...51,334,802
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GBA2
glucosylceramidase beta 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,264,959...52,277,298
Ensembl chr11:52,265,070...52,277,213
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GLIPR2
GLI pathogenesis related 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,622,460...52,634,602
Ensembl chr11:52,615,039...52,681,270
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GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,688,295...52,731,160
Ensembl chr11:52,689,343...52,731,231
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GRHPR
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:53,748,389...53,759,692
Ensembl chr11:53,748,414...53,759,693
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HINT2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,342,564...52,344,994
Ensembl chr11:52,342,567...52,344,947
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HRCT1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,420,070...52,421,097
Ensembl chr11:52,420,011...52,420,629
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IL11RA
interleukin 11 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,324,915...51,341,981
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KIF24
kinesin family member 24
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,974,376...51,049,862
Ensembl chr11:50,976,627...51,022,382
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MELK
maternal embryonic leucine zipper kinase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,970,699...53,067,169
Ensembl chr11:52,977,260...53,067,172
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MSMP
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,280,528...52,281,559
Ensembl chr11:52,280,528...52,281,541
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MYORG
myogenesis regulating glycosidase (putative)
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,070,088...51,077,595
Ensembl chr11:51,071,707...51,073,851
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NDUFB6
NADH:ubiquinone oxidoreductase subunit B6
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:49,821,998...49,833,624
Ensembl chr22:3,526,115...3,526,501
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NFX1
nuclear transcription factor, X-box binding 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,387,368...50,462,978
Ensembl chr11:50,387,883...50,462,428
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NOL6
nucleolar protein 6
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,533,150...50,544,770
Ensembl chr11:50,533,453...50,545,094
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NPR2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,283,680...52,339,247
Ensembl chr11:52,321,590...52,339,249
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NUDT2
nudix hydrolase 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,049,992...51,064,317
Ensembl chr11:51,050,053...51,064,178
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OR13C11B
olfactory receptor family 13 subfamily C member 11B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,449,404...52,450,363
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OR13J1
olfactory receptor family 13 subfamily J member 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,399,129...52,400,349
Ensembl chr11:52,399,129...52,400,067
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PAX5
paired box 5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:53,194,905...53,390,204
Ensembl chr11:53,201,344...53,390,974
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PHF24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,552,345...51,580,762
Ensembl chr11:51,569,770...51,577,059
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PIGO
phosphatidylinositol glycan anchor biosynthesis class O
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,661,954...51,671,169
Ensembl chr11:51,663,577...51,671,178
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POLR1E
RNA polymerase I subunit E
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:53,793,324...53,808,725
Ensembl chr11:53,793,042...53,808,724
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PRSS2
serine protease 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr16:6,778,109...6,781,404
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RECK
reversion inducing cysteine rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,519,303...52,607,753
Ensembl chr11:52,519,317...52,607,217
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RGP1
RGP1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,276,151...52,280,482
Ensembl chr11:52,277,189...52,281,639
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RIGI
RNA sensor RIG-I
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:49,764,252...49,799,626
Ensembl chr11:49,764,267...49,799,527
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RNF38
ring finger protein 38
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,764,216...52,827,993
Ensembl chr11:52,764,220...52,901,983
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RPP25L
ribonuclease P/MRP subunit p25 like
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,284,382...51,286,891
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RUSC2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,074,234...52,144,854
Ensembl chr11:52,120,179...52,144,356
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SIGMAR1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,310,672...51,313,426
Ensembl chr11:51,311,085...51,313,400
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SIT1
signaling threshold regulating transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,189,585...52,191,255
Ensembl chr11:52,190,215...52,191,308
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SMU1
SMU1 DNA replication regulator and spliceosomal factor
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,172,679...50,195,719
Ensembl chr11:50,174,153...50,195,644
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SPAG8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,339,338...52,341,642
Ensembl chr11:52,339,339...52,341,522
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SPATA31G1
SPATA31 subfamily G member 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,624,571...51,629,189
Ensembl chr11:51,625,604...51,629,131
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SPINK4
serine peptidase inhibitor Kazal type 4
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,340,068...50,345,777
Ensembl chr11:50,340,145...50,345,777
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SPMIP6
sperm microtubule inner protein 6
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,078,682...51,092,014
Ensembl chr11:51,078,808...51,091,818
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STOML2
stomatin like 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,675,963...51,679,313
Ensembl chr11:51,675,963...51,679,199
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TESK1
testis associated actin remodelling kinase 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,166,049...52,170,611
Ensembl chr11:52,166,276...52,170,309
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TLN1
talin 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,227,286...52,260,112
Ensembl chr11:52,227,611...52,259,915
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TMEM215
transmembrane protein 215
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:49,980,861...49,983,122
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TMEM8B
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,344,566...52,387,049
Ensembl chr11:52,355,933...52,386,466
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TOMM5
translocase of outer mitochondrial membrane 5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:53,896,300...53,901,523
Ensembl chr11:53,896,305...53,901,489
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TOPORS
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:49,809,156...49,821,224
Ensembl chr11:49,809,465...49,821,075
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TPM2
tropomyosin 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923
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TRMT10B
tRNA methyltransferase 10B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:54,056,251...54,071,870
Ensembl chr11:54,056,312...54,071,692
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UBAP1
ubiquitin associated protein 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,890,090...50,974,901
Ensembl chr11:50,918,939...50,974,159
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UBAP2
ubiquitin associated protein 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,679,601...50,803,455
Ensembl chr11:50,675,525...50,802,940
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UBE2R2
ubiquitin conjugating enzyme E2 R2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:50,554,173...50,678,284
Ensembl chr11:50,554,349...50,675,514
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UNC13B
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:51,707,968...51,941,148
Ensembl chr11:51,708,302...51,940,955
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VCP
valosin containing protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
OMIM ClinVar
PMID:7182974 PMID:9536098 PMID:12446676 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17576681 PMID:17622780 PMID:17763460 PMID:17889967 PMID:17935506 PMID:18341608 PMID:18845250 PMID:19208399 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19506019 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:20957154 PMID:21145000 PMID:21249466 PMID:21320982 PMID:21387114 PMID:21816654 PMID:21822278 PMID:21880997 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22572540 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23000505 PMID:23029473 PMID:23056506 PMID:23152587 PMID:23169451 PMID:23333620 PMID:23498975 PMID:23868359 PMID:24123792 PMID:24196964 PMID:24829604 PMID:24838343 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25457024 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:25878907 PMID:26105173 PMID:26467025 PMID:26511028 PMID:26549226 PMID:26555887 PMID:26627873 PMID:26809617 PMID:26853221 PMID:27165006 PMID:27209344 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28542158 PMID:28692196 PMID:28709720 PMID:28738334 PMID:29033165 PMID:29127544 PMID:29754758 PMID:29770363 PMID:29899994 PMID:30005904 PMID:30103325 PMID:30103957 PMID:30270202 PMID:30279455 PMID:30293881 PMID:30488450 PMID:30955949 PMID:31687228 PMID:31848255 PMID:31862442 PMID:31914217 PMID:32028661 PMID:32036797 PMID:32317127 PMID:32481679 PMID:32528171 PMID:32579787 PMID:32671691 PMID:33144514 PMID:33415820 PMID:34573259 PMID:35741724 PMID:36980948 More...
NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
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ZBTB5
zinc finger and BTB domain containing 5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:53,760,510...53,774,864
Ensembl chr11:53,762,839...53,774,921
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ZCCHC7
zinc finger CCHC-type containing 7
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr11:53,434,007...53,686,187
Ensembl chr11:53,438,985...53,685,855
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CHMP2B
charged multivesicular body protein 2B
ISO
ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
OMIM ClinVar
PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 PMID:16954699 PMID:17576681 PMID:17956895 PMID:20301378 PMID:20352044 PMID:20592581 PMID:20625756 PMID:21222599 PMID:22521643 PMID:22527221 PMID:23155438 PMID:25558820 PMID:25741868 PMID:26467025 PMID:26777436 PMID:26836416 PMID:28166811 PMID:28430856 PMID:28492532 PMID:29411640 PMID:29431110 PMID:29486463 PMID:29525180 PMID:30054184 PMID:30766798 PMID:32638105 More...
NCBI chr31:789,586...817,925
Ensembl chr31:791,139...817,895
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POU1F1
POU class 1 homeobox 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
ClinVar
PMID:28492532
NCBI chr31:769,454...788,761
Ensembl chr31:769,487...787,626
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CCNF
cyclin F
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
OMIM ClinVar
PMID:25741868 PMID:27080313 PMID:28281833 PMID:31577344
NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435
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CYLD
CYLD lysine 63 deubiquitinase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
OMIM ClinVar
PMID:10835629 PMID:19462465 PMID:23338750 PMID:24728327 PMID:25741868 PMID:28492532 PMID:32185393 More...
NCBI chr 2:64,561,684...64,628,829
Ensembl chr 2:64,562,503...64,628,175
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BAIAP2
BAR/IMD domain containing adaptor protein 2
ISO
DNA:snps, haplotype:multiple (human)
RGD
PMID:15303240
RGD:11576298
NCBI chr 9:923,519...992,254
Ensembl chr 9:923,493...981,923
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CELSR3
cadherin EGF LAG seven-pass G-type receptor 3
ISO
ClinVar Annotator: match by term: Tourette syndrome
ClinVar
PMID:25590979 PMID:25741868 PMID:30257206
NCBI chr20:40,457,430...40,495,128
Ensembl chr20:40,457,657...40,483,881
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DRD2
dopamine receptor D2
treatment
ISO
mRNA:increased expression:striatum (rat)
RGD
PMID:19467315 PMID:22876458
RGD:2311576 RGD:6907444
NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241
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DRD3
dopamine receptor D3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10523822
NCBI chr33:18,369,362...18,414,465
Ensembl chr33:18,372,865...18,412,277
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DRD4
dopamine receptor D4
susceptibility no_association
ISO
DNA:duplication:exon:g.2689_2737dup (human)
RGD
PMID:8725747 PMID:25258183
RGD:13209010 RGD:13210516
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HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4
ISO
RGD
PMID:22683190
RGD:9693691
NCBI chr30:36,637,492...36,656,194
Ensembl chr30:36,639,908...36,656,406
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HDC
histidine decarboxylase
susceptibility
ISO
ClinVar Annotator: match by term: Tourette syndrome
OMIM ClinVar
PMID:20445167 PMID:24411733 PMID:25741868 PMID:25741909
NCBI chr30:16,201,222...16,223,452
Ensembl chr30:16,201,589...16,223,662
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
OMIM:137580
MouseDO
NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
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SLC6A3
solute carrier family 6 member 3
ISO
OMIM:137580
MouseDO
NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742
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SLITRK1
SLIT and NTRK like family member 1
ISO
ClinVar Annotator: match by term: Tourette syndrome
OMIM ClinVar
PMID:17003809 PMID:17035247 PMID:18413575 PMID:19018236 PMID:20301778 PMID:20351724 PMID:22942103 PMID:23528612 PMID:23835198 PMID:23990902 PMID:25741868 PMID:27812321 PMID:28492532 More...
NCBI chr22:36,325,548...36,329,784
Ensembl chr22:36,326,751...36,328,841
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SOX5
SRY-box transcription factor 5
ISO
ClinVar Annotator: match by term: Tourette syndrome
ClinVar
NCBI chr27:22,857,661...23,855,709
Ensembl chr27:23,452,985...23,851,380
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TDO2
tryptophan 2,3-dioxygenase
ISO
RGD
PMID:8873217
RGD:1358595
NCBI chr15:53,406,110...53,424,260
Ensembl chr15:53,405,957...53,423,958
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ASB16
ankyrin repeat and SOCS box containing 16
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr 9:19,217,508...19,229,451
Ensembl chr 9:19,217,721...19,226,242
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ATXN7L3
ataxin 7 like 3
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr 9:19,196,688...19,204,724
Ensembl chr 9:19,196,693...19,202,447
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G6PC3
glucose-6-phosphatase catalytic subunit 3
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr 9:19,299,619...19,304,038
Ensembl chr 9:19,260,240...19,303,995
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GRN
granulin precursor
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
OMIM ClinVar
PMID:6497355 PMID:9152110 PMID:9259373 PMID:9536098 PMID:9633693 PMID:12459547 PMID:12476321 PMID:16199547 PMID:16401619 PMID:16495329 PMID:16862115 PMID:16862116 PMID:16950801 PMID:16983677 PMID:16983685 PMID:17030534 PMID:17071927 PMID:17202431 PMID:17210807 PMID:17228326 PMID:17345602 PMID:17356379 PMID:17371905 PMID:17436289 PMID:17439980 PMID:17522386 PMID:17576681 PMID:17620546 PMID:17698705 PMID:17826340 PMID:17917583 PMID:17923627 PMID:17949857 PMID:17950702 PMID:17984093 PMID:18183624 PMID:18184915 PMID:18192287 PMID:18223198 PMID:18234697 PMID:18245784 PMID:18314228 PMID:18322394 PMID:18359860 PMID:18392865 PMID:18413474 PMID:18464284 PMID:18543312 PMID:18551524 PMID:18565828 PMID:18703462 PMID:18723524 PMID:18752597 PMID:18838661 PMID:18855025 PMID:19012866 PMID:19020205 PMID:19030774 PMID:19133655 PMID:19158106 PMID:19288468 PMID:19632744 PMID:19649643 PMID:19683260 PMID:19766663 PMID:19858458 PMID:19884572 PMID:20020531 PMID:20028451 PMID:20045477 PMID:20087814 PMID:20142524 PMID:20142525 PMID:20301545 PMID:20522652 PMID:20937952 PMID:20947212 PMID:21403024 PMID:21454553 PMID:21482928 PMID:21569259 PMID:21695656 PMID:21753165 PMID:21800185 PMID:21891869 PMID:22127750 PMID:22312439 PMID:22366795 PMID:22459598 PMID:22491866 PMID:22608501 PMID:22647257 PMID:22781549 PMID:22818528 PMID:22819134 PMID:22906081 PMID:22995991 PMID:23117491 PMID:23338682 PMID:23383383 PMID:23463024 PMID:23596077 PMID:23609919 PMID:23624518 PMID:23684369 PMID:23724906 PMID:23742080 PMID:23759146 PMID:23770887 PMID:23813535 PMID:23990795 PMID:24022032 PMID:24081456 PMID:24387985 PMID:24494724 PMID:24503614 PMID:24703252 PMID:24814951 PMID:25104557 PMID:25333068 PMID:25525159 PMID:25546130 PMID:25558820 PMID:25604855 PMID:25715738 PMID:25741868 PMID:25943890 PMID:26075876 PMID:26159191 PMID:26460020 PMID:26467025 PMID:26652843 PMID:26674655 PMID:26791154 PMID:26811050 PMID:26925509 PMID:27082848 PMID:27311648 PMID:27341800 PMID:27567822 PMID:27632209 PMID:27790088 PMID:27884173 PMID:27997711 PMID:28000352 PMID:28430294 PMID:28473694 PMID:28492532 PMID:28543767 PMID:28664756 PMID:28749476 PMID:29036611 PMID:29339765 PMID:29486463 PMID:29525178 PMID:29525180 PMID:29530724 PMID:29614680 PMID:29724592 PMID:29874572 PMID:30054184 PMID:30090657 PMID:30279455 PMID:30528841 PMID:30530974 PMID:30545478 PMID:30924900 PMID:30954774 PMID:30992141 PMID:31031559 PMID:31122931 PMID:31182772 PMID:31262553 PMID:31361008 PMID:31600775 PMID:31810826 PMID:31855245 PMID:31914217 PMID:31996268 PMID:32028661 PMID:32317127 PMID:32474471 PMID:32483926 PMID:32507413 PMID:32843152 PMID:33016921 PMID:33203472 PMID:33351065 PMID:33601107 PMID:33980708 PMID:34162492 PMID:34305575 PMID:34435519 PMID:34561610 PMID:35085262 PMID:35217970 PMID:35861376 PMID:35896380 PMID:36641371 More...
NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268
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HDAC5
histone deacetylase 5
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr 9:19,261,075...19,297,669
Ensembl chr 9:19,260,893...19,297,623
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HROB
homologous recombination factor with OB-fold
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr 9:19,230,345...19,245,518
Ensembl chr 9:19,230,399...19,245,624
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LSM12
LSM12 homolog
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr 9:19,306,421...19,328,278
Ensembl chr 9:19,306,461...19,328,050
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RUNDC3A
RUN domain containing 3A
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr 9:19,108,330...19,117,908
Ensembl chr 9:19,107,606...19,117,884
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SLC25A39
solute carrier family 25 member 39
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr 9:19,103,104...19,107,691
Ensembl chr 9:19,102,787...19,107,694
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SLC4A1
solute carrier family 4 member 1
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
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TMUB2
transmembrane and ubiquitin like domain containing 2
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr 9:19,204,802...19,209,275
Ensembl chr 9:19,204,793...19,208,571
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UBTF
upstream binding transcription factor
ISO
ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar
PMID:28492532
NCBI chr 9:19,177,778...19,189,805
Ensembl chr 9:19,179,174...19,189,181
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ABAT
4-aminobutyrate aminotransferase
treatment
ISO
RGD
PMID:152600 PMID:6237280
RGD:10046047 RGD:10047058
NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
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ACHE
acetylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chr 6:8,874,747...8,879,926
Ensembl chr 6:8,873,584...8,879,702
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:19124532
RGD:5686822
NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
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AGTR1
angiotensin II receptor type 1
ISO
protein:decreased expression:putamen:
RGD
PMID:8666063
RGD:10047397
NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
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AIFM1
apoptosis inducing factor mitochondria associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12930891
NCBI chr X:101,275,027...101,307,551
Ensembl chr X:101,275,017...101,307,367
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APOA4
apolipoprotein A4
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:21297956
RGD:5147768
NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837
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ATF2
activating transcription factor 2
ISO
RGD
PMID:15878807
RGD:10047400
NCBI chr36:19,032,376...19,103,382
Ensembl chr36:19,010,717...19,103,292
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ATF5
activating transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28861715
NCBI chr 1:106,631,711...106,636,477
Ensembl chr 1:106,632,353...106,636,502
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ATRX
ATRX chromatin remodeler
ISO
RGD
PMID:22240898
RGD:11040584
NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980
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BAG1
BAG cochaperone 1
treatment
ISO
RGD
PMID:18400759
RGD:13506921
NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:11299004 PMID:18938217
RGD:10054041 RGD:10054048
NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
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BCHE
butyrylcholinesterase
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:2953866
RGD:5688127
NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
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BCL2
BCL2 apoptosis regulator
ISO
RGD
PMID:11299004
RGD:10054041
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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BDNF
brain derived neurotrophic factor
treatment
ISO
mRNA, protein:decreased expression:cerebral cortex
RGD
PMID:17885687 PMID:18093249 PMID:19499586
RGD:10058981 RGD:10059353 RGD:10415531
NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
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CASP3
caspase 3
treatment
ISO
RGD
PMID:10888929 PMID:15668790
RGD:10413886 RGD:13432082
NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
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CASP8
caspase 8
ISO
protein:altered localization:cerebellum:
RGD
PMID:10197541
RGD:734695
NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
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CASP9
caspase 9
severity
ISO
protein:increased expression:caudate nucleus: protein:increased expression:striatum:
RGD
PMID:12095160
RGD:13432083
NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
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CAT
catalase
ISO
protein:decreased expression:brain
RGD
PMID:19445928
RGD:5130752
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
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CEBPA
CCAAT enhancer binding protein alpha
treatment
ISO
protein:altered localization:liver (mouse)
RGD
PMID:17213233 PMID:21651979
RGD:10401191 RGD:6484269
NCBI chr 1:118,846,252...118,851,045
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CEBPB
CCAAT enhancer binding protein beta
ISO
protein:increased expression:brain (mouse)
RGD
PMID:14749423
RGD:10401227
NCBI chr24:36,661,294...36,663,162
Ensembl chr24:36,661,616...36,662,656
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CHAT
choline O-acetyltransferase
ISO
mRNA:decreased expression:cerebral cortex
RGD
PMID:16987871
RGD:5686805
NCBI chr28:1,480,364...1,528,858
Ensembl chr28:1,482,202...1,528,776
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CIB1
calcium and integrin binding 1
ISO
mRNA:increased expression:head of caudate nucleus (mouse)
RGD
PMID:24324398
RGD:10401859
NCBI chr 3:53,184,713...53,209,195
Ensembl chr 3:53,184,714...53,188,224
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CNR1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929960
NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983
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CNR2
cannabinoid receptor 2
ISO
RGD
PMID:19115380
RGD:2316196
NCBI chr 2:75,640,636...75,662,000
Ensembl chr 2:75,658,999...75,660,126
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CNTF
ciliary neurotrophic factor
treatment
ISO
human gene in a cynomolgus monkey model
RGD
PMID:9121555 PMID:12040055
RGD:628474 RGD:734795
NCBI chr18:37,758,148...37,765,698
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CREB1
cAMP responsive element binding protein 1
ISO
protein:decreased phosphorylation:neuron:
RGD
PMID:11967539 PMID:16420411
RGD:10059577 RGD:734817
NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556
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CREBBP
CREB binding protein
disease_progression treatment
ISO
protein:altered localization:nucleus
RGD
PMID:11264541 PMID:19291221 PMID:20448484
RGD:10059583 RGD:13432093 RGD:13432094
NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
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CTSH
cathepsin H
ISO
protein:increased expression:caudate nucleus
RGD
PMID:7561949
RGD:5686393
NCBI chr 3:58,103,284...58,113,958
Ensembl chr 3:58,103,291...58,113,718
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CYCS
cytochrome c, somatic
severity
ISO
protein:altered localization:cytosol
RGD
PMID:12095160
RGD:13432083
NCBI chr14:38,579,446...38,581,983
Ensembl chr14:38,579,446...38,581,983
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DIABLO
diablo IAP-binding mitochondrial protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12930891
NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308
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DLG4
discs large MAGUK scaffold protein 4
ISO
protein:decreased expression:cerebral cortex, synapse protein:decreased expression:prefrontal cortex
RGD
PMID:24728190 PMID:25568121
RGD:13432154 RGD:13432155
NCBI chr 5:32,165,399...32,175,600
Ensembl chr 5:32,163,594...32,188,126
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DNAH6
dynein axonemal heavy chain 6
treatment
ISO
RGD
PMID:24282028
RGD:13432158
NCBI chr17:40,134,143...40,366,419
Ensembl chr17:40,134,493...40,366,442
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DRD1
dopamine receptor D1
ISO
protein:decreased expression:cerebral cortex (mouse)
RGD
PMID:12111832 PMID:16905556 PMID:18815258
RGD:2302117 RGD:5686414 RGD:7248682
NCBI chr 4:37,550,454...37,554,641
Ensembl chr 4:37,549,708...37,553,287
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DRD2
dopamine receptor D2
ISO
protein:decreased expression:cerebral cortex (mouse)
RGD
PMID:12111832 PMID:16905556
RGD:5686414 RGD:7248682
NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241
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DRD3
dopamine receptor D3
ISO
RGD
PMID:12111832
RGD:5686414
NCBI chr33:18,369,362...18,414,465
Ensembl chr33:18,372,865...18,412,277
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DRD5
dopamine receptor D5
ISO
RGD
PMID:12111832
RGD:5686414
NCBI chr 3:69,621,187...69,623,522
Ensembl chr 3:69,621,734...69,623,893
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DUSP1
dual specificity phosphatase 1
treatment
ISO
RGD
PMID:23392662
RGD:7771544
NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514
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EGFR
epidermal growth factor receptor
ISO
RGD
PMID:12890790
RGD:10047165
NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
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EGR1
early growth response 1
ISO
RGD
PMID:12191502
RGD:10395281
NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
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EIF2AK2
eukaryotic translation initiation factor 2 alpha kinase 2
ISO
RGD
PMID:11468270 PMID:15567511
RGD:10395345 RGD:10395348
NCBI chr17:29,494,641...29,537,933
Ensembl chr17:29,496,128...29,537,933
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ELK1
ETS transcription factor ELK1
ISO
RGD
PMID:20126313
RGD:7488914
NCBI chr X:41,256,205...41,270,656
Ensembl chr X:41,257,482...41,270,776
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F2
coagulation factor II, thrombin
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:21297956
RGD:5147768
NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
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FAAH
fatty acid amide hydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929960
NCBI chr15:14,023,111...14,040,156
Ensembl chr15:14,023,299...14,040,212
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FAS
Fas cell surface death receptor
ISO
protein:decreased expression:putamen,caudate:
RGD
PMID:11054182
RGD:12903948
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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FASLG
Fas ligand
ISO
protein:decreased expression:putamen,caudate:
RGD
PMID:11054182
RGD:12903948
NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
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FOXP1
forkhead box P1
ISO
mRNA:decreased expression:striatum (mouse) mRNA:decreased expression:caudate nucleus (human)
RGD
PMID:16405510
RGD:11560524
NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397
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GDNF
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16943855
NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
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GIT1
GIT ArfGAP 1
ISO
protein:decreased expression:cerebral cortex (human)
RGD
PMID:15383276
RGD:1549448
NCBI chr 9:43,676,707...43,686,566
Ensembl chr 9:43,677,899...43,693,177
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GJA1
gap junction protein alpha 1
ISO
RGD
PMID:10873295
RGD:7207854
NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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GLUL
glutamate-ammonia ligase
ISO
RGD
PMID:3159462 PMID:6237280
RGD:10046047 RGD:13524508
NCBI chr 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241
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GPX1
glutathione peroxidase 1
ISO
RGD
PMID:18588971
RGD:13432193
NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
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GPX6
glutathione peroxidase 6
ISO
RGD
PMID:18588971
RGD:13432193
NCBI chr35:25,620,843...25,630,288
Ensembl chr35:25,620,111...25,631,062
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GRIK2
glutamate ionotropic receptor kainate type subunit 2
onset
ISO
DNA:repeat: (human)
RGD
PMID:10522893
RGD:1358638
NCBI chr12:58,932,754...59,991,305
Ensembl chr12:59,355,017...59,990,408
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
onset
ISO
DNA:SNPs: :rs8057394, rs2650427 (human) DNA:SNPs: :rs1969060 (human)
RGD
PMID:15742215 PMID:17409241 PMID:17569088
RGD:13432195 RGD:13432554 RGD:13432556
NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960
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GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
onset
ISO
DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human) DNA:SNP: :2664C>T (rs1806201) (human)
RGD
PMID:15742215 PMID:17409241 PMID:17569088
RGD:13432195 RGD:13432554 RGD:13432556
NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
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GRM5
glutamate metabotropic receptor 5
treatment disease_progression
ISO
RGD
PMID:15306259 PMID:23489026 PMID:24282028 PMID:25160573
RGD:13432158 RGD:13432558 RGD:13432561 RGD:13432562
NCBI chr21:10,980,186...11,496,539
Ensembl chr21:10,996,075...11,493,290
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GSR
glutathione-disulfide reductase
treatment
ISO
RGD
PMID:11490092
RGD:10401927
NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
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HAAO
3-hydroxyanthranilate 3,4-dioxygenase
ISO
RGD
PMID:2527078
RGD:13524507
NCBI chr10:45,368,157...45,379,521
Ensembl chr10:45,368,178...45,379,160
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HAP1
huntingtin associated protein 1
no_association onset
ISO
DNA:SNP: :rs4523977 (human) DNA:SNP:multiple DNA:SNP: :p.T441M (human)
RGD
PMID:18192679 PMID:20512606 PMID:22402331 PMID:22698993 PMID:24324398 PMID:26000918 More...
RGD:10401859 RGD:13432575 RGD:13432576 RGD:13432577 RGD:13432578 RGD:13432579
NCBI chr 9:21,065,770...21,074,462
Ensembl chr 9:21,065,846...21,072,991
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HDAC1
histone deacetylase 1
ISO
mRNA:increased expression:cerebral cortex protein:increased expression:striatum:
RGD
PMID:22918830 PMID:22965876
RGD:10402189 RGD:9590098
NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
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HDAC3
histone deacetylase 3
ISO
protein:increased expression:striatum: mRNA:increased expression:cerebral cortex
RGD
PMID:22918830 PMID:22965876
RGD:10402189 RGD:9590098
NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682
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HDAC7
histone deacetylase 7
ISO
protein:decreased expression:brain:
RGD
PMID:21118817
RGD:9681718
NCBI chr27:6,941,287...6,968,370
Ensembl chr27:6,929,829...6,979,317
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HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:17702587
RGD:5508462
NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
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HNMT
histamine N-methyltransferase
ISO
RGD
PMID:21106039
RGD:5509774
NCBI chr19:40,656,266...40,702,498
Ensembl chr19:40,655,161...40,702,218
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HPCA
hippocalcin
ISO
mRNA:decreased expression:brain (human)
RGD
PMID:19686238
RGD:9693681
NCBI chr 2:68,464,631...68,473,661
Ensembl chr 2:68,465,280...68,473,310
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HSF1
heat shock transcription factor 1
treatment
ISO
human gene in a mouse model protein:decreased expression:liver (mouse)
RGD
PMID:16051598 PMID:19443488 PMID:24381308
RGD:10402372 RGD:10402386 RGD:10402387
NCBI chr13:37,724,741...37,745,259
Ensembl chr13:37,724,759...37,745,252
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HSPA8
heat shock protein family A (Hsp70) member 8
ISO
protein: increased expression
RGD
PMID:22171050
RGD:5688778
NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797
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HTRA2
HtrA serine peptidase 2
ISO
protein:increased expression:striatal neuron (mouse)
RGD
PMID:18662332
RGD:5688723
NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399
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HTT
huntingtin
onset treatment
ISO
ClinVar Annotator: match by term: Huntington disease DNA:repeats:cds:CAG (human)
OMIM ClinVar RGD
PMID:8242074 PMID:17940007 PMID:25741868 PMID:25741909 PMID:28492532
RGD:10403026 RGD:10403029
NCBI chr 3:61,076,934...61,221,462
Ensembl chr 3:61,079,904...61,330,290
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IFT57
intraflagellar transport 57
ISO
protein:altered localization:cilia
RGD
PMID:25989602
RGD:13432581
NCBI chr33:13,432,902...13,486,692
Ensembl chr33:13,410,544...13,486,612
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IFT88
intraflagellar transport 88
ISO
protein:altered localization:cilia
RGD
PMID:25989602
RGD:13432581
NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266
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IGF1
insulin like growth factor 1
treatment
ISO
human protein in a rat model
RGD
PMID:15371744 PMID:23384443 PMID:25140802
RGD:10045865 RGD:10045870 RGD:12904970
NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
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IGF1R
insulin like growth factor 1 receptor
ISO
RGD
PMID:25140802
RGD:10045870
NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
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IL6
interleukin 6
treatment
ISO
RGD
PMID:11860469
RGD:10402809
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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IL6R
interleukin 6 receptor
treatment
ISO
RGD
PMID:11860469
RGD:10402809
NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
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IP6K2
inositol hexakisphosphate kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652713
NCBI chr20:40,403,260...40,437,863
Ensembl chr20:40,427,083...40,437,804
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
ISO
protein:decreased activity:cerebellum, striatum (mouse) protein:decreased expression:neostriatum (rat)
RGD
PMID:9761455 PMID:19193873 PMID:21145001
RGD:6480685 RGD:6480875 RGD:6483009
NCBI chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198
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KDM5C
lysine demethylase 5C
ISO
mRNA:increased expression:caudate nucleus (human)
RGD
PMID:23872847
RGD:9587806
NCBI chr X:44,921,271...44,953,338
Ensembl chr X:44,921,816...44,952,616
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L1CAM
L1 cell adhesion molecule
ISO
RGD
PMID:17093074
RGD:6483035
NCBI chr X:121,708,695...121,722,819
Ensembl chr X:121,708,894...121,733,365
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LEP
leptin
ISO
protein:decreased expression:serum
RGD
PMID:19573560
RGD:5128676
NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
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LOC100688969
glyceraldehyde-3-phosphate dehydrogenase-like
ISO
RGD
PMID:26268247
RGD:13792684
NCBI chr X:51,925,654...51,926,724
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MAOA
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21075085
NCBI chr X:37,678,933...37,744,757
Ensembl chr X:37,677,493...37,744,757
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MAOB
monoamine oxidase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21075085
NCBI chr X:37,765,810...37,883,955
Ensembl chr X:37,765,813...37,883,955
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MAP2
microtubule associated protein 2
ISO
RGD
PMID:20092829
RGD:6483090
NCBI chr37:17,316,899...17,611,360
Ensembl chr37:17,466,678...17,607,803
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MAP3K5
mitogen-activated protein kinase kinase kinase 5
treatment onset
ISO
protein:increased expression:cortex,striatum,nucleus: DNa:SNO:promoter:rs5880308(human)
RGD
PMID:18327563 PMID:19646509
RGD:10412311 RGD:10412314
NCBI chr 1:29,107,813...29,306,437
Ensembl chr 1:29,108,591...29,306,503
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MBP
myelin basic protein
ISO
protein:decreased expression:brain:
RGD
PMID:21906685
RGD:7349325
NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860
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MIR132
microRNA mir-132
ISO
down-regulated
RGD
PMID:21035445
RGD:11041745
NCBI chr 9:46,153,531...46,153,590
Ensembl chr 9:46,153,511...46,153,611
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MIR22
microRNA mir-22
ISO
down-regulated
RGD
PMID:21035445
RGD:11041745
NCBI chr 9:45,852,534...45,852,593
Ensembl chr 9:45,852,517...45,852,609
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MIR222
microRNA mir-222
ISO
down-regulated
RGD
PMID:21035445
RGD:11041745
NCBI chr X:39,524,519...39,524,608
Ensembl chr X:39,524,519...39,524,608
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MIR29C-1
microRNA mir-29c-1
ISO
down-regulated
RGD
PMID:21035445
RGD:11041745
NCBI chr 7:6,588,010...6,588,067
G
MIR448
microRNA mir-448
ISO
up-regulated
RGD
PMID:21035445
RGD:11041745
NCBI chr X:87,558,063...87,558,172
Ensembl chr X:87,558,063...87,558,172
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:striatum
RGD
PMID:21175737
RGD:13204827
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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MSH2
mutS homolog 2
onset
ISO
RGD
PMID:12554681
RGD:10412317
NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
G
MT-CO2
mitochondrially encoded cytochrome c oxidase II
severity
ISO
RGD
PMID:20660112
RGD:13506651
NCBI chr MT:7,034...7,717
Ensembl chr MT:7,034...7,717
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MT-ND3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO
RGD
PMID:20480544
RGD:5687693
NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842
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MTNR1A
melatonin receptor 1A
treatment
ISO
mRNA:decreased expression:brain
RGD
PMID:21994366
RGD:9686058
NCBI chr16:44,258,239...44,286,761
G
NAPEPLD
N-acyl phosphatidylethanolamine phospholipase D
ISO
RGD
PMID:23659592
RGD:10412654
NCBI chr18:16,945,096...16,990,752
Ensembl chr18:16,945,253...17,009,607
G
NCOR1
nuclear receptor corepressor 1
ISO
protein:decreased expression:temporal cortex, neuron, nucleus (human)
RGD
PMID:10441327
RGD:5688338
NCBI chr 5:39,687,530...39,837,003
Ensembl chr 5:39,687,543...39,836,464
G
NECAB3
N-terminal EF-hand calcium binding protein 3
ISO
protein:increased expression:brain
RGD
PMID:18768156
RGD:2316262
NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656
G
NFE2L2
NFE2 like bZIP transcription factor 2
ISO
mRNA:increased expression:striatum
RGD
PMID:24008671
RGD:10412688
NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
G
NFKB1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:11211235
RGD:10045663
NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703
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NGFR
nerve growth factor receptor
ISO
mRNA:increased expression:caudate nucleus
RGD
PMID:18093249
RGD:10058981
NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
G
NOG
noggin
treatment
ISO
RGD
PMID:17885687
RGD:10415531
NCBI chr 9:31,453,604...31,456,060
G
NOS3
nitric oxide synthase 3
ISO
mRNA:increased expression:striatum (rat)
RGD
PMID:17850874
RGD:2292130
NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
G
NPY
neuropeptide Y
onset no_association
ISO
DNA:SNP: :rs3037354 (human) DNA:SNP: :rs16147 (human) mRNA:decreased expression:hypothalamus
RGD
PMID:1710657 PMID:23697793 PMID:24121255
RGD:10431606 RGD:10433112 RGD:10433553
NCBI chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443
G
NPY2R
neuropeptide Y receptor Y2
onset
ISO
DNA:SNP: :rs2234759 (human)
RGD
PMID:24121255
RGD:10431606
NCBI chr15:52,790,136...52,797,785
Ensembl chr15:52,794,671...52,795,818
G
NRF1
nuclear respiratory factor 1
onset
ISO
DNA:SNPs: :rs6949152, rs7781972 (human) mRNA:decreased expression:striatum
RGD
PMID:20529956 PMID:21595933
RGD:6770890 RGD:6771173
NCBI chr14:7,085,018...7,218,802
Ensembl chr14:7,085,791...7,193,034
G
OGG1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19857538
NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
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OPTN
optineurin
ISO
protein:increased expression:neuron, nucleus
RGD
PMID:22318854
RGD:6480499
NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
G
PARP1
poly(ADP-ribose) polymerase 1
ISO
protein:increased expression:neuron,astrocyte:
RGD
PMID:15668790
RGD:10413886
NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
G
PCP4
Purkinje cell protein 4
ISO
protein:decreased expression:substantium
RGD
PMID:9697113
RGD:9850159
NCBI chr31:34,529,688...34,584,497
Ensembl chr31:34,529,683...34,584,501
G
PDE9A
phosphodiesterase 9A
treatment
ISO
RGD
PMID:25315303
RGD:243048432
NCBI chr31:36,949,777...37,036,237
Ensembl chr31:36,949,723...37,035,809
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PLCB3
phospholipase C beta 3
ISO
RGD
PMID:22917585
RGD:13432582
NCBI chr18:52,793,848...52,809,065
Ensembl chr18:52,793,838...52,809,070
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POLR2A
RNA polymerase II subunit A
ISO
RGD
PMID:20089533
RGD:10043799
NCBI chr 5:32,403,814...32,429,717
Ensembl chr 5:32,403,829...32,429,681
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PPARGC1A
PPARG coactivator 1 alpha
treatment onset severity no_association
ISO
mRNA:decreased expression:medium spiny neuron (mouse) protein:increased expression:subthalamic nucleus (rat) DNA:snp:intron:IVS2-19637A>G (rs7665116) (human) DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human) protein:increased expression:brain (human) DNA:missense mutation:cds:pT612M (rs3736265) (human) mRNA:decreased expression:caudate nucleus (human) DNA:snps, haplotypes:multiple (human) DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
RGD
PMID:17018277 PMID:19133136 PMID:20736066 PMID:21211002 PMID:21493629 PMID:21595933 PMID:21651979 PMID:21757867 PMID:22589246 PMID:22813864 PMID:24383721 More...
RGD:10053648 RGD:10053650 RGD:10053656 RGD:10053663 RGD:10395289 RGD:10395290 RGD:10395291 RGD:6484259 RGD:6484269 RGD:6770890 RGD:7242018
NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
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PPP1R1B
protein phosphatase 1 regulatory inhibitor subunit 1B
ISO
RGD
PMID:18502785
RGD:13515080
NCBI chr 9:22,838,198...22,847,924
Ensembl chr 9:22,838,576...22,848,142
G
PPP1R9A
protein phosphatase 1 regulatory subunit 9A
ISO
mRNA:decreased expression:caudate nucleus mRNA:decreased expression:striatum(mouse)
RGD
PMID:20089533
RGD:10043799
NCBI chr14:20,251,791...20,563,315
Ensembl chr14:20,251,738...20,557,208
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PPP3CA
protein phosphatase 3 catalytic subunit alpha
ISO
RGD
PMID:19733666
RGD:6483320
NCBI chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688
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PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
protein:increased phosphorylation, altered localization:nucleus protein:altered localization:nucleus
RGD
PMID:21768291
RGD:6484534
NCBI chr 4:68,579,061...68,614,548
Ensembl chr 4:68,579,037...68,611,841
G
PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
RGD
PMID:19464273
RGD:10412729
NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
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PSMB9
proteasome 20S subunit beta 9
ISO
RGD
PMID:14684867
RGD:6483364
NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:21362433
RGD:5508227
NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
G
QPRT
quinolinate phosphoribosyltransferase
ISO
RGD
PMID:2527078
RGD:13524507
NCBI chr 6:17,778,664...17,794,110
Ensembl chr 6:17,779,439...17,794,035
G
RCAN1
regulator of calcineurin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270310
NCBI chr31:29,908,046...30,002,412
Ensembl chr31:29,909,388...30,002,418
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SETDB1
SET domain bifurcated histone lysine methyltransferase 1
ISO
protein:increased expression:neocortex, caudate nucleus (human)
RGD
PMID:17142323
RGD:9590159
NCBI chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551
G
SIN3A
SIN3 transcription regulator family member A
ISO
protein:altered localization:cytoplasm
RGD
PMID:10441327
RGD:5688338
NCBI chr30:38,231,844...38,306,665
Ensembl chr30:38,232,680...38,382,635
G
SIRT1
sirtuin 1
ISO
human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human) protein:decreased expression:frontal cortex
RGD
PMID:9949199 PMID:18538940 PMID:22179316
RGD:10395240 RGD:9585998 RGD:9586004
NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279
G
SLC18A3
solute carrier family 18 member A3
ISO
mRNA, protein:decreased expression:striatum mRNA, protein:decreased expression:brain, spinal cord
RGD
PMID:16987871
RGD:5686805
NCBI chr28:1,476,873...1,478,538
Ensembl chr28:1,476,774...1,478,505
G
SLC1A2
solute carrier family 1 member 2
ISO
RGD
PMID:9100675 PMID:17409241
RGD:13432194 RGD:13432195
NCBI chr18:32,565,258...32,717,052
Ensembl chr18:32,565,258...32,709,225
G
SLC29A1
solute carrier family 29 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27567601
NCBI chr12:12,632,233...12,644,669
Ensembl chr12:12,634,194...12,644,667
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SOD2
superoxide dismutase 2
susceptibility
ISO
RGD
PMID:11161607
RGD:13464352
NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
G
SRSF6
serine and arginine rich splicing factor 6
ISO
protein:increased expression:striatum (human)
RGD
PMID:25038828
RGD:11039484
NCBI chr24:31,217,190...31,222,852
Ensembl chr24:31,217,184...31,218,618
G
SYNE3
spectrin repeat containing nuclear envelope family member 3
ISO
up-regulated
RGD
PMID:22202438
RGD:11073597
NCBI chr 8:64,277,233...64,365,852
Ensembl chr 8:64,281,549...64,366,293
G
TBP
TATA-box binding protein
severity
ISO
protein:increased expression:middle frontal gyrus (human)
RGD
PMID:12531510
RGD:5684339
NCBI chr12:72,458,959...72,479,271
Ensembl chr12:72,459,041...72,479,124
G
TFAM
transcription factor A, mitochondrial
ISO
mRNA:decreased expression:striatum
RGD
PMID:20529956 PMID:21595933
RGD:6770890 RGD:6771173
NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058
G
TIMP2
TIMP metallopeptidase inhibitor 2
ISO
RGD
PMID:12614934
RGD:1580169
NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
G
TRIP10
thyroid hormone receptor interactor 10
ISO
protein:increased expression:striatum
RGD
PMID:12604778
RGD:11535137
NCBI chr20:53,543,861...53,554,421
Ensembl chr20:53,544,005...53,554,270
G
UCP1
uncoupling protein 1
treatment
ISO
mRNA, protein:decreased expression:brown adipose tissue (mouse)
RGD
PMID:17055784 PMID:20561979
RGD:10045649 RGD:10045650
NCBI chr19:2,254,881...2,289,902
G
UCP2
uncoupling protein 2
ISO
mRNA:decreased expression:peripheral blood (human)
RGD
PMID:23029535
RGD:10045655
NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128
G
XPO5
exportin 5
ISO
mRNA:increased expression:striatum (mouse)
RGD
PMID:21035445
RGD:11041745
NCBI chr12:11,983,071...12,034,441
Ensembl chr12:11,983,646...12,034,688
G
ZC3H7B
zinc finger CCCH-type containing 7B
ISO
RGD
PMID:12586550
RGD:13432192
NCBI chr10:23,882,379...23,944,850
Ensembl chr10:23,884,981...23,920,131
G
ZDHHC13
zinc finger DHHC-type palmitoyltransferase 13
ISO
OMIM:143100
MouseDO
NCBI chr21:41,243,214...41,292,458
Ensembl chr21:41,243,294...41,291,995
G
ZDHHC17
zinc finger DHHC-type palmitoyltransferase 17
ISO
OMIM:143100
MouseDO
NCBI chr15:19,631,719...19,727,089
Ensembl chr15:19,499,445...19,724,341
G
ADAM33
ADAM metallopeptidase domain 33
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,668,377...17,682,217
Ensembl chr24:17,668,500...17,681,209
G
ADISSP
adipose secreted signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,586,111...17,600,147
Ensembl chr24:17,586,782...17,599,696
G
ADRA1D
adrenoceptor alpha 1D
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,231,771...17,239,110
Ensembl chr24:17,213,643...17,214,761 Ensembl chr24:17,213,643...17,214,761
G
AP5S1
adaptor related protein complex 5 subunit sigma 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,537,539...17,543,834
Ensembl chr24:17,537,544...17,543,901
G
ATRN
attractin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,698,238...17,859,810
Ensembl chr24:17,702,282...17,859,737
G
AVP
arginine vasopressin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,183,057...18,184,827
Ensembl chr24:18,183,057...18,184,883
G
BMP2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:15,199,667...15,211,509
Ensembl chr24:15,200,291...15,212,217
G
C24H20orf141
chromosome 24 C20orf141 homolog
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,444,215...18,446,862
Ensembl chr24:18,445,972...18,446,744
G
CDC25B
cell division cycle 25B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759
G
CDS2
CDP-diacylglycerol synthase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:16,407,869...16,469,855
Ensembl chr24:16,414,682...16,469,759
G
CENPB
centromere protein B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,569,440...17,572,311
Ensembl chr24:17,569,663...17,572,127
G
CHGB
chromogranin B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:15,917,215...15,930,222
Ensembl chr24:15,917,215...15,930,158
G
CPXM1
carboxypeptidase X, M14 family member 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,453,874...18,460,350
Ensembl chr24:18,453,712...18,461,738
G
CRLS1
cardiolipin synthase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:15,814,111...15,837,485
Ensembl chr24:15,814,770...15,893,458
G
DDRGK1
DDRGK domain containing 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,085,865...18,098,868
Ensembl chr24:18,084,725...18,097,157
G
DNAAF9
dynein axonemal assembly factor 9
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,908,665...18,050,002
Ensembl chr24:17,908,741...18,048,116
G
EBF4
EBF family member 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,469,862...18,528,305
Ensembl chr24:18,470,952...18,528,622
G
FASTKD5
FAST kinase domains 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,124,249...18,136,415
Ensembl chr24:18,133,738...18,136,167
G
FERMT1
FERM domain containing kindlin 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:15,748,632...15,785,025
Ensembl chr24:15,748,629...15,782,880
G
GFRA4
GDNF family receptor alpha 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,685,888...17,690,747
Ensembl chr24:17,686,817...17,690,056
G
GPCPD1
glycerophosphocholine phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:16,153,622...16,203,155
Ensembl chr24:16,148,035...16,220,757
G
HSPA12B
heat shock protein family A (Hsp70) member 12B
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,600,541...17,619,902
Ensembl chr24:17,600,889...17,619,978
G
IDH3B
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,556,437...18,561,399
Ensembl chr24:18,556,508...18,561,391
G
ITPA
inosine triphosphatase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
G
LOC102151131
uncharacterized LOC102151131
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,217,294...18,222,755
G
LRRN4
leucine rich repeat neuronal 4
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:15,801,220...15,810,954
Ensembl chr24:15,803,125...15,810,930
G
LZTS3
leucine zipper tumor suppressor family member 3
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,111,188...18,122,246
Ensembl chr24:18,117,723...18,120,428
G
MAVS
mitochondrial antiviral signaling protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,510,209...17,529,286
Ensembl chr24:17,512,761...17,523,807
G
MCM8
minichromosome maintenance 8 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:15,850,602...15,893,452
Ensembl chr24:15,814,770...15,893,458
G
MIR103-2
microRNA mir-103-2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,468,354...17,468,430
Ensembl chr24:17,468,355...17,468,434
G
MRPS26
mitochondrial ribosomal protein S26
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,215,055...18,216,993
Ensembl chr24:18,215,055...18,217,333
G
NOP56
NOP56 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,561,407...18,566,770
Ensembl chr24:18,561,408...18,566,719
G
OXT
oxytocin/neurophysin I prepropeptide
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,193,381...18,194,232
Ensembl chr24:18,193,339...18,194,170
G
PANK2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,461,406...17,475,248
Ensembl chr24:17,463,447...17,490,360
G
PCED1A
PC-esterase domain containing 1A
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,424,936...18,429,698
Ensembl chr24:18,424,901...18,429,652
G
PCNA
proliferating cell nuclear antigen
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
G
PDYN
prodynorphin
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:19,043,955...19,057,413
Ensembl chr24:19,053,870...19,056,364
G
PRND
prion like protein doppel
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:16,822,807...16,828,473
Ensembl chr24:16,825,655...16,826,191
G
PRNP
prion protein
ISO
ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES
OMIM ClinVar
PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 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:8909447 PMID:8939199 PMID:9266722 PMID:9270595 PMID:9279329 PMID:9482303 PMID:9531435 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9786248 PMID:9789072 PMID:9813003 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:12813570 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 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: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: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:26757195 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27716661 PMID:27803826 PMID:28314738 PMID:28492532 PMID:29092967 PMID:29382530 PMID:29458424 PMID:29887139 PMID:31447551 PMID:32317127 PMID:32986314 PMID:33731477 PMID:34663460 PMID:35812092 More...
NCBI chr24:16,845,224...16,862,319
Ensembl chr24:16,846,207...16,859,815
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PROKR2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:16,351,912...16,364,139
Ensembl chr24:16,351,806...16,375,217
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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 chr24:18,224,355...18,395,650
Ensembl chr24:18,224,801...18,296,350
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RASSF2
Ras association domain family member 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:16,736,786...16,779,910
Ensembl chr24:16,736,962...16,781,569
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RNF24
ring finger protein 24
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,378,996...17,459,249
Ensembl chr24:17,405,328...17,454,790
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SHLD1
shieldin complex subunit 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:15,957,863...16,037,336
Ensembl chr24:15,957,852...16,038,008
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SIGLEC1
sialic acid binding Ig like lectin 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,636,143...17,667,791
Ensembl chr24:17,636,026...17,666,854
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SLC23A2
solute carrier family 23 member 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:16,573,616...16,709,296
Ensembl chr24:16,574,168...16,709,296
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SLC4A11
solute carrier family 4 member 11
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,057,437...18,068,420
Ensembl chr24:18,057,517...18,068,425
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SMOX
spermine oxidase
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,240,910...17,291,258
Ensembl chr24:17,252,537...17,300,451
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SNRPB
small nuclear ribonucleoprotein polypeptides B and B1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,673,975...18,683,315
Ensembl chr24:18,674,039...18,683,229
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SPEF1
sperm flagellar 1
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:17,572,457...17,580,006
Ensembl chr24:17,574,741...17,578,439
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STK35
serine/threonine kinase 35
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,913,746...18,958,240
Ensembl chr24:18,753,651...18,958,221
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TGM3
transglutaminase 3
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,753,638...18,793,780
Ensembl chr24:18,753,651...18,958,221
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TGM6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,698,016...18,721,975
Ensembl chr24:18,700,099...18,721,930
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TMC2
transmembrane channel like 2
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,576,966...18,642,204
Ensembl chr24:18,578,138...18,642,198
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TMEM230
transmembrane protein 230
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:16,486,514...16,496,180
Ensembl chr24:16,486,574...16,495,491
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TMEM239
transmembrane protein 239
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,444,215...18,445,838
Ensembl chr24:18,444,918...18,445,376
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TRMT6
tRNA methyltransferase 6 non-catalytic subunit
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:15,836,359...15,905,147
Ensembl chr24:15,893,335...15,903,889
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UBOX5
U-box domain containing 5
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,124,237...18,166,506
Ensembl chr24:18,157,429...18,165,966
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VPS16
VPS16 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,401,440...18,424,605
Ensembl chr24:18,399,572...18,424,510
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ZNF343
zinc finger protein 343
ISO
ClinVar Annotator: match by term: Huntington disease-like 1
ClinVar
PMID:28492532
NCBI chr24:18,659,505...18,665,685
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CHRNA6
cholinergic receptor nicotinic alpha 6 subunit
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:22,990,377...23,009,257
Ensembl chr16:22,990,167...23,009,106
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CHRNB3
cholinergic receptor nicotinic beta 3 subunit
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:23,021,652...23,040,907
Ensembl chr16:23,021,645...23,048,347
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DUOX2
dual oxidase 2
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
NCBI chr30:11,521,833...11,541,719
Ensembl chr30:11,521,845...11,541,716
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FNTA
farnesyltransferase, CAAX box, subunit alpha
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:22,739,070...22,767,942
Ensembl chr16:22,739,079...22,767,914
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HOOK3
hook microtubule tethering protein 3
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:22,791,198...22,940,168
Ensembl chr16:22,784,267...22,901,991
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PDGFB
platelet derived growth factor subunit B
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:25741868
NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
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PDGFRB
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
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RNF170
ring finger protein 170
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:22,901,224...22,929,990
Ensembl chr16:22,900,313...22,927,125
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SLC20A2
solute carrier family 20 member 2
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition
OMIM ClinVar
PMID:16199547 PMID:20301594 PMID:22327515 PMID:23334463 PMID:23437308 PMID:24209445 PMID:24463626 PMID:25178512 PMID:25284758 PMID:25741868 PMID:26475232 PMID:27726124 PMID:27943094 PMID:28391956 PMID:28477710 PMID:28492532 PMID:29955172 PMID:30609140 PMID:30704756 PMID:31003906 PMID:31618668 PMID:32705272 PMID:33471268 PMID:34732400 More...
NCBI chr16:23,165,347...23,268,115
Ensembl chr16:23,200,798...23,267,775
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SMIM19
small integral membrane protein 19
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:23,152,852...23,165,554
Ensembl chr16:23,153,968...23,165,771
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THAP1
THAP domain containing 1
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:22,940,257...22,951,453
Ensembl chr16:22,940,216...22,948,582
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PDGFRB
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4
OMIM ClinVar
PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 PMID:23255827 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:31064749 PMID:34494111 More...
NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
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PDGFB
platelet derived growth factor subunit B
ISO
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5
OMIM ClinVar
PMID:21409505 PMID:23913003 PMID:25741868
NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
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XPR1
xenotropic and polytropic retrovirus receptor 1
ISO
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification
OMIM ClinVar
PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906
NCBI chr 7:14,165,608...14,379,822
Ensembl chr 7:14,165,608...14,379,822
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MYORG
myogenesis regulating glycosidase (putative)
ISO
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 PMID:30649222 PMID:30656188 PMID:31009047 PMID:31440850 PMID:31951047 PMID:32211515 More...
NCBI chr11:51,070,088...51,077,595
Ensembl chr11:51,071,707...51,073,851
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JAM2
junctional adhesion molecule 2
ISO
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive | ClinVar Annotator: match by term: JAM2-related condition
OMIM ClinVar
PMID:25741868 PMID:26136916 PMID:31851307 PMID:32142645
NCBI chr31:21,137,378...21,198,278
Ensembl chr31:21,137,363...21,197,668
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IFIH1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset | ClinVar Annotator: match by term: Cerebral calcification nonarteriosclerotic idiopathic childhood-onset
ClinVar
PMID:25741868 PMID:28492532
NCBI chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048
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ACAP3
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,466,833...56,482,023
Ensembl chr 5:56,468,164...56,481,913
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ACTRT2
actin related protein T2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,659,055...57,660,479
Ensembl chr 5:57,659,262...57,660,395
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AGRN
agrin
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,239,621...56,273,679
Ensembl chr 5:56,239,701...56,272,745
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ANKRD65
ankyrin repeat domain 65
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,564,686...56,568,194
Ensembl chr 5:56,565,514...56,567,376
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ARHGEF16
Rho guanine nucleotide exchange factor 16
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:58,031,246...58,051,936
Ensembl chr 5:58,030,459...58,051,936
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ATAD3A
ATPase family AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746
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AURKAIP1
aurora kinase A interacting protein 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,539,987...56,541,578
Ensembl chr 5:56,539,991...56,541,388
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B3GALT6
beta-1,3-galactosyltransferase 6
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,421,687...56,423,120
Ensembl chr 5:56,405,372...56,422,771
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C1QTNF12
C1q and TNF related 12
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,433,555...56,438,419
Ensembl chr 5:56,433,552...56,438,339
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C5H1orf159
chromosome 5 C1orf159 homolog
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,296,633...56,330,358
Ensembl chr 5:56,297,635...56,307,616
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CALML6
calmodulin like 6
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,901,401...56,904,422
Ensembl chr 5:56,901,715...56,904,424
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CCDC27
coiled-coil domain containing 27
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:58,266,091...58,280,997
Ensembl chr 5:58,269,308...58,279,829
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CCNL2
cyclin L2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,542,358...56,550,701
Ensembl chr 5:56,542,566...56,550,691
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CDK11
cyclin dependent kinase 11
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,698,267...56,714,075
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CEP104
centrosomal protein 104
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:58,301,767...58,339,920
Ensembl chr 5:58,305,589...58,335,438
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CFAP74
cilia and flagella associated protein 74
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,909,092...56,970,980
Ensembl chr 5:56,909,486...56,961,903
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CPTP
ceramide-1-phosphate transfer protein
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,498,163...56,501,918
Ensembl chr 5:56,498,207...56,500,845
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DVL1
dishevelled segment polarity protein 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491
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FAAP20
FA core complex associated protein 20
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,114,784...57,122,854
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FNDC10
fibronectin type III domain containing 10
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,660,721...56,662,696
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GABRD
gamma-aminobutyric acid type A receptor subunit delta
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358
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GNB1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295
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HES4
hes family bHLH transcription factor 4
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,221,509...56,226,938
Ensembl chr 5:56,225,497...56,226,772
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HES5
hes family bHLH transcription factor 5
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,387,961...57,389,412
Ensembl chr 5:57,388,674...57,389,388
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INTS11
integrator complex subunit 11
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017
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ISG15
ISG15 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
OMIM ClinVar
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 PMID:21031596 PMID:22859821 PMID:24033266 PMID:25307056 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 PMID:32402279 More...
NCBI chr 5:56,230,879...56,237,354
Ensembl chr 5:56,236,318...56,404,695
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KLHL17
kelch like family member 17
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,186,077...56,193,671
Ensembl chr 5:56,187,922...56,192,983
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LRRC47
leucine rich repeat containing 47
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:58,286,909...58,297,961
Ensembl chr 5:58,288,392...58,297,996
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MEGF6
multiple EGF like domains 6
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:58,058,833...58,145,855
Ensembl chr 5:58,059,031...58,146,193
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MIB2
MIB E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,680,526...56,693,551
Ensembl chr 5:56,581,550...56,693,544
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MIR200A
microRNA mir-200a
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,369,063...56,369,152
Ensembl chr 5:56,369,061...56,369,151
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MIR200B
microRNA mir-200b
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479
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MMEL1
membrane metalloendopeptidase like 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911
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MMP23
matrix metallopeptidase 23
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,693,751...56,697,284
Ensembl chr 5:56,694,966...56,697,284
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MORN1
MORN repeat containing 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,227,265...57,275,292
Ensembl chr 5:57,227,315...57,277,669
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MRPL20
mitochondrial ribosomal protein L20
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,553,326...56,558,182
Ensembl chr 5:56,553,331...56,558,136
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MXRA8
matrix remodeling associated 8
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,522,283...56,526,750
Ensembl chr 5:56,522,470...56,526,668
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NADK
NAD kinase
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,743,920...56,774,578
Ensembl chr 5:56,745,869...56,774,529
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NOC2L
NOC2 like nucleolar associated transcriptional repressor
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,172,399...56,185,993
Ensembl chr 5:56,172,446...56,185,932
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PANK4
pantothenate kinase 4 (inactive)
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,370,624...57,386,095
Ensembl chr 5:57,370,946...57,386,089
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PEX10
peroxisomal biogenesis factor 10
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,289,530...57,291,864
Ensembl chr 5:57,289,326...57,291,802
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PLCH2
phospholipase C eta 2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,303,160...57,368,568
Ensembl chr 5:57,302,996...57,371,468
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PLEKHN1
pleckstrin homology domain containing N1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,193,824...56,202,340
Ensembl chr 5:56,194,583...56,202,293
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PRDM16
PR/SET domain 16
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976
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PRKCZ
protein kinase C zeta
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,012,020...57,113,346
Ensembl chr 5:57,012,070...57,112,664
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PRXL2B
peroxiredoxin like 2B
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,429,973...57,434,371
Ensembl chr 5:57,429,212...57,434,210
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PUSL1
pseudouridine synthase like 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,482,802...56,485,778
Ensembl chr 5:56,482,363...56,485,783
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RER1
retention in endoplasmic reticulum sorting receptor 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,278,349...57,288,564
Ensembl chr 5:57,278,371...57,285,870
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RNF223
ring finger protein 223
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,290,548...56,293,473
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SAMD11
sterile alpha motif domain containing 11
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,119,207...56,175,267
Ensembl chr 5:56,151,171...56,172,055
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SCNN1D
sodium channel epithelial 1 subunit delta
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595
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SDF4
stromal cell derived factor 4
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,407,506...56,421,515
Ensembl chr 5:56,407,807...56,421,430
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SKI
SKI proto-oncogene
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,144,178...57,216,385
Ensembl chr 5:57,145,825...57,214,403
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SLC35E2
solute carrier family 35 member E2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,715,798...56,739,464
Ensembl chr 5:56,718,550...56,738,420
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SMIM1
small integral membrane protein 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:58,281,962...58,285,071
Ensembl chr 5:58,282,347...58,284,616
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SSU72
SSU72 homolog, RNA polymerase II CTD phosphatase
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,620,803...56,650,131
Ensembl chr 5:56,620,805...56,650,131
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TAS1R3
taste 1 receptor member 3
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,503,720...56,506,883
Ensembl chr 5:56,503,720...56,506,898
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TMEM240
transmembrane protein 240
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,613,561...56,619,693
Ensembl chr 5:56,614,201...56,619,693
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TMEM52
transmembrane protein 52
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,900,297...56,906,565
Ensembl chr 5:56,901,674...56,906,500
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TMEM88B
transmembrane protein 88B
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,569,512...56,573,353
Ensembl chr 5:56,569,814...56,571,310
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TNFRSF14
TNF receptor superfamily member 14
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,386,190...57,416,864
Ensembl chr 5:57,411,529...57,416,512
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TNFRSF18
TNF receptor superfamily member 18
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741
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TNFRSF4
TNF receptor superfamily member 4
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761
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TP73
tumor protein p73
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
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TPRG1L
tumor protein p63 regulated 1 like
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:58,155,178...58,159,880
Ensembl chr 5:58,157,096...58,159,880
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TTC34
tetratricopeptide repeat domain 34
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:57,470,807...57,481,874
Ensembl chr 5:57,473,001...57,490,971
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TTLL10
tubulin tyrosine ligase like 10
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,364,247...56,390,899
Ensembl chr 5:56,336,884...56,388,693
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UBE2J2
ubiquitin conjugating enzyme E2 J2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,440,394...56,455,491
Ensembl chr 5:56,441,821...56,455,460
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VWA1
von Willebrand factor A domain containing 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:56,578,256...56,583,552
Ensembl chr 5:56,578,297...56,582,502
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WRAP73
WD repeat containing, antisense to TP73
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 5:58,160,438...58,176,011
Ensembl chr 5:58,160,431...58,175,920
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ANXA11
annexin A11
ISO
ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities
OMIM ClinVar
PMID:25741868 PMID:28469040 PMID:28492532 PMID:29845112 PMID:33087501 PMID:34048612 More...
NCBI chr 4:29,250,164...29,266,713
Ensembl chr 4:29,224,247...29,266,008
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VCP
valosin containing protein
ISO
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1
OMIM ClinVar
PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17763460 PMID:18341608 PMID:18845250 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19506019 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:20957154 PMID:21145000 PMID:21320982 PMID:21387114 PMID:21822278 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23029473 PMID:23056506 PMID:23169451 PMID:23333620 PMID:23498975 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:26105173 PMID:26467025 PMID:26549226 PMID:26555887 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28542158 PMID:28692196 PMID:29770363 PMID:30005904 PMID:30279455 PMID:30293881 PMID:31687228 PMID:31848255 PMID:31862442 PMID:32317127 PMID:32528171 PMID:33144514 PMID:34573259 More...
NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
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HNRNPA2B1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2
OMIM ClinVar
PMID:9536098 PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 PMID:25741868 PMID:27990297 PMID:28389692 PMID:28492532 PMID:29358076 PMID:35484142 More...
NCBI chr14:39,498,805...39,509,034
Ensembl chr14:39,500,897...39,508,952
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HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
OMIM ClinVar
PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868
NCBI chr27:1,013,459...1,020,083
Ensembl chr27:1,015,868...1,019,891
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EGF
epidermal growth factor
ISO
protein:increased expression:plasma
RGD
PMID:24119107
RGD:10059681
NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
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HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr27:1,013,459...1,020,083
Ensembl chr27:1,015,868...1,019,891
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HNRNPA2B1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
DNA:missense mutation:cds:p.D290V (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:23455423
RGD:10395280
NCBI chr14:39,498,805...39,509,034
Ensembl chr14:39,500,897...39,508,952
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TNF
tumor necrosis factor
ISO
protein:increased expression:plasma
RGD
PMID:24119107
RGD:10059681
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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VCP
valosin containing protein
ISO
ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
ClinVar
PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17576681 PMID:17763460 PMID:18341608 PMID:18845250 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19506019 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:20957154 PMID:21145000 PMID:21320982 PMID:21387114 PMID:21822278 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23029473 PMID:23056506 PMID:23169451 PMID:23333620 PMID:23498975 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:26105173 PMID:26467025 PMID:26549226 PMID:26555887 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28542158 PMID:28692196 PMID:29754758 PMID:29770363 PMID:30005904 PMID:30270202 PMID:30279455 PMID:30293881 PMID:31687228 PMID:31848255 PMID:31862442 PMID:32028661 PMID:32317127 PMID:32528171 PMID:33144514 PMID:34573259 PMID:36980948 More...
NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
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SLC18A2
solute carrier family 18 member A2
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 2
OMIM ClinVar
PMID:25741868 PMID:25741916 PMID:26497564 PMID:26539891 PMID:28492532 PMID:28716265 PMID:31618753 PMID:32581362 PMID:34078222 PMID:35002152 PMID:36318270 More...
NCBI chr28:27,731,709...27,809,341
Ensembl chr28:27,731,004...27,767,993
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NR4A2
nuclear receptor subfamily 4 group A member 2
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
OMIM ClinVar
PMID:25741868 PMID:25741909 PMID:29758562 PMID:29770430 PMID:31428396 PMID:31922365 PMID:32366965 PMID:33585677 More...
NCBI chr36:2,546,237...2,554,559
Ensembl chr36:2,547,421...2,552,780
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PACRG
parkin coregulated
ISO
ClinVar Annotator: match by term: Juvenile-onset Parkinson disease
ClinVar
NCBI chr 1:51,202,146...51,717,076
Ensembl chr 1:51,202,164...51,717,070
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PARK7
Parkinsonism associated deglycase
ISO
ClinVar Annotator: match by term: Juvenile-onset Parkinson disease
ClinVar
NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Juvenile-onset Parkinson disease
ClinVar
NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
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TNFRSF9
TNF receptor superfamily member 9
ISO
ClinVar Annotator: match by term: Juvenile-onset Parkinson disease
ClinVar
NCBI chr 5:61,548,972...61,562,019
Ensembl chr 5:61,551,405...61,560,667
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ATP13A2
ATPase cation transporting 13A2
ISO
ClinVar Annotator: match by term: Kufor-Rakeb syndrome
OMIM ClinVar
PMID:495089 PMID:9536098 PMID:12169656 PMID:16199547 PMID:16964263 PMID:17485642 PMID:17576681 PMID:18075584 PMID:18075585 PMID:18414213 PMID:19015489 PMID:19085912 PMID:19360675 PMID:19458722 PMID:19705361 PMID:20137506 PMID:20227461 PMID:20683840 PMID:20816920 PMID:20853184 PMID:20976737 PMID:21060012 PMID:21094623 PMID:21542062 PMID:21665991 PMID:21696388 PMID:21714071 PMID:21724849 PMID:22296644 PMID:22388936 PMID:22743658 PMID:22768177 PMID:22847264 PMID:22995991 PMID:23499937 PMID:23522931 PMID:24088041 PMID:24399444 PMID:25374329 PMID:25466404 PMID:25741868 PMID:26467025 PMID:26633545 PMID:27165006 PMID:27294386 PMID:28137957 PMID:28492532 PMID:28518168 PMID:29163333 PMID:29606608 PMID:29903538 PMID:29966207 PMID:30232368 PMID:30746398 PMID:30833663 PMID:30868101 PMID:31771779 PMID:31944623 PMID:31996848 PMID:32461654 PMID:32707456 PMID:34382491 PMID:36703223 More...
NCBI chr 2:81,196,355...81,215,736
Ensembl chr 2:81,196,463...81,215,689
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ATXN2
ataxin 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr26:9,073,667...9,188,429
Ensembl chr26:9,073,809...9,188,414
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ATXN3
ataxin 3
ISO
OMIM
NCBI chr 8:1,318,440...1,354,814
Ensembl chr 8:1,247,155...1,354,720
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DLA-DRA
MHC class II DR alpha chain
ISO
DNA:SNP:intron: (rs3129882) (human)
RGD
PMID:21791235
RGD:5490156
NCBI chr12:2,133,026...2,137,825
Ensembl chr12:2,132,499...2,168,975
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DNAJB6
DnaJ heat shock protein family (Hsp40) member B6
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:19,792,957...19,849,299
Ensembl chr16:19,768,639...19,848,139
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DNAJC13
DnaJ heat shock protein family (Hsp40) member C13
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:24218364 PMID:25118025 PMID:27270108
NCBI chr23:29,389,120...29,506,339
Ensembl chr23:29,389,979...29,506,343
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EIF4G1
eukaryotic translation initiation factor 4 gamma 1
ISO
ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to
OMIM ClinVar
PMID:21907011 PMID:23408866 PMID:25368108 PMID:25741868 PMID:28492532
NCBI chr34:17,194,588...17,214,498
Ensembl chr34:17,195,562...17,214,052
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FGF20
fibroblast growth factor 20
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:18252210 PMID:19133659
NCBI chr16:40,330,793...40,339,925
Ensembl chr16:40,331,307...40,339,616
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GBA1
glucosylceramidase beta 1
ISO
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset
OMIM ClinVar
PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8774051 PMID:8790604 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9240741 PMID:9279145 PMID:9375849 PMID:9516376 PMID:9554746 PMID:9556036 PMID:10079102 PMID:10636167 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11783951 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12694238 PMID:12734541 PMID:12791040 PMID:12838552 PMID:12972024 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:15967693 PMID:16061944 PMID:16199547 PMID:16293621 PMID:16967369 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17689991 PMID:17875915 PMID:18022370 PMID:18160183 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20629126 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21745757 PMID:21831682 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22173904 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22227325 PMID:22247978 PMID:22375149 PMID:22387070 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22961873 PMID:22964618 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23225227 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23811968 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:25084554 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25525159 PMID:25535748 PMID:25558695 PMID:25653295 PMID:25741868 PMID:25741913 PMID:25741914 PMID:25933391 PMID:25946768 PMID:26000814 PMID:26096741 PMID:26117366 PMID:26296077 PMID:26467025 PMID:26689913 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:29980418 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:31010158 PMID:31026225 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34134921 PMID:34275192 PMID:34586679 PMID:34649574 PMID:35639160 PMID:84325327 More...
NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
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GSTP1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:exon:A>G313 (human)
RGD
PMID:17250723
RGD:5148021
NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
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LRRK2
leucine rich repeat kinase 2
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 PMID:15811455 PMID:15852371 PMID:15929036 PMID:15955629 PMID:16001413 PMID:16102999 PMID:16115731 PMID:16145815 PMID:16157901 PMID:16172858 PMID:16240353 PMID:16269541 PMID:16311269 PMID:16401756 PMID:16436781 PMID:16436782 PMID:16533964 PMID:16728648 PMID:16750377 PMID:16960813 PMID:16966501 PMID:16966502 PMID:17050822 PMID:17060595 PMID:17215492 PMID:17353388 PMID:17938369 PMID:18539534 PMID:18539535 PMID:18704525 PMID:18981379 PMID:18986508 PMID:19020907 PMID:19283415 PMID:20008657 PMID:20197411 PMID:20301387 PMID:21115957 PMID:21280089 PMID:21753163 PMID:21850687 PMID:22539006 PMID:22575234 PMID:23075850 PMID:23472874 PMID:24033266 PMID:24148854 PMID:24243757 PMID:24660942 PMID:25330418 PMID:25741868 PMID:26062626 PMID:26251043 PMID:26467025 PMID:27111571 PMID:28465860 PMID:28492532 PMID:28639421 PMID:29386392 PMID:29402177 More...
NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870
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MAPT
microtubule associated protein tau
ISO
ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar OMIM
PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 PMID:10100642 PMID:10214944 PMID:10219785 PMID:10627302 PMID:10767321 PMID:10821687 PMID:10932182 PMID:11013246 PMID:11115852 PMID:11255441 PMID:11402146 PMID:11756436 PMID:12473404 PMID:15489396 PMID:15831501 PMID:17526496 PMID:19458322 PMID:20561037 PMID:22022446 PMID:22723997 PMID:25319522 PMID:25592136 PMID:25741868 PMID:26220942 PMID:26269332 PMID:26467025 PMID:26519432 PMID:27439681 PMID:28268100 PMID:28492532 PMID:30528841 PMID:32843152 More...
NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:8104867 PMID:15972314
NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
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NR4A2
nuclear receptor subfamily 4 group A member 2
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:12496759 PMID:15079038 PMID:15184637 PMID:19429166 PMID:23066323 PMID:24126627 PMID:25741868 PMID:28492532 More...
NCBI chr36:2,546,237...2,554,559
Ensembl chr36:2,547,421...2,552,780
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PARK7
Parkinsonism associated deglycase
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303
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PINK1
PTEN induced kinase 1
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
NCBI chr 2:78,276,091...78,293,761
Ensembl chr 2:78,277,077...78,294,123
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PODXL
podocalyxin like
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:26864383 PMID:28492532
NCBI chr14:5,614,006...5,625,360
Ensembl chr14:5,590,478...5,625,360
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PSAP
prosaposin
ISO
ClinVar Annotator: match by term: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Parkinson disease 24, autosomal dominant, susceptibility to | ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 PMID:32201884 PMID:33402667 More...
NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
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SNCAIP
synuclein alpha interacting protein
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
PMID:12761037 PMID:18366718 PMID:28492532
NCBI chr11:12,226,940...12,375,725
Ensembl chr11:12,301,719...12,375,560
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TBP
TATA-box binding protein
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr12:72,458,959...72,479,271
Ensembl chr12:72,459,041...72,479,124
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VPS35
VPS35 retromer complex component
ISO
ClinVar Annotator: match by term: Parkinson disease, late-onset
ClinVar
NCBI chr15:8,428,073...8,454,601
Ensembl chr15:8,428,172...8,454,049
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AGER
advanced glycosylation end-product specific receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16141792
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
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AIF1
allograft inflammatory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr12:1,104,350...1,106,179
Ensembl chr12:1,104,394...1,106,177
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ANXA5
annexin A5
ISO
protein:increased expression: plasma
RGD
PMID:23576984
RGD:10053729
NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378
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APOE
apolipoprotein E
ISO
protein:increased expression:neuron:
RGD
PMID:21907175
RGD:7771591
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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BECN1
beclin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19628769
NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236
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CCR1
chemokine (C-C motif) receptor 1
ISO
RGD
PMID:14595653
RGD:5688166
NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
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CHRNA4
cholinergic receptor nicotinic alpha 4 subunit
ISO
RGD
PMID:15465084
RGD:1358509
NCBI chr24:47,024,948...47,036,507
Ensembl chr24:47,025,187...47,042,266
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CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
ISO
RGD
PMID:15465084
RGD:1358509
NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399
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EDN1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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ELK1
ETS transcription factor ELK1
ISO
RGD
PMID:20126313
RGD:7488914
NCBI chr X:41,256,205...41,270,656
Ensembl chr X:41,257,482...41,270,776
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ENO2
enolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30236862
NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182
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GBA1
glucosylceramidase beta 1
ISO
ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia
OMIM ClinVar
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 PMID:1589760 PMID:1704891 PMID:1840477 PMID:1897529 PMID:1899336 PMID:1961718 PMID:1971142 PMID:1972019 PMID:1974409 PMID:2117855 PMID:2269438 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2502917 PMID:2508065 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7475546 PMID:7627184 PMID:7655857 PMID:7789963 PMID:7916532 PMID:7981693 PMID:8081401 PMID:8118463 PMID:8160756 PMID:8213821 PMID:8280613 PMID:8294487 PMID:8432537 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8544197 PMID:8733893 PMID:8790604 PMID:8829654 PMID:8889578 PMID:8929950 PMID:9040001 PMID:9153297 PMID:9240741 PMID:9279145 PMID:9295080 PMID:9375849 PMID:9497856 PMID:9554746 PMID:9556036 PMID:9683600 PMID:9856561 PMID:10079102 PMID:10352942 PMID:10466427 PMID:10636167 PMID:10649495 PMID:10685993 PMID:10714667 PMID:10744424 PMID:10757640 PMID:10777718 PMID:10796875 PMID:11148530 PMID:11259172 PMID:11336129 PMID:11359469 PMID:11783951 PMID:11903352 PMID:11933202 PMID:11992489 PMID:12204005 PMID:12482401 PMID:12587096 PMID:12595585 PMID:12838552 PMID:12972024 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15276648 PMID:15352589 PMID:15605411 PMID:15826241 PMID:15954102 PMID:15967693 PMID:16061944 PMID:16086325 PMID:16185900 PMID:16185907 PMID:16199547 PMID:16293621 PMID:16967369 PMID:16981045 PMID:17059888 PMID:17395504 PMID:17427031 PMID:17574891 PMID:17620502 PMID:17689991 PMID:17803231 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18429048 PMID:18434642 PMID:18541817 PMID:18586596 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19394250 PMID:19513999 PMID:19527940 PMID:19816973 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20004867 PMID:20301446 PMID:20425034 PMID:20432762 PMID:20629126 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20729108 PMID:20816920 PMID:20837833 PMID:20846888 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21056933 PMID:21106416 PMID:21228398 PMID:21257328 PMID:21384230 PMID:21431620 PMID:21445609 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21704274 PMID:21742527 PMID:21744338 PMID:21745757 PMID:21779299 PMID:21837367 PMID:21856586 PMID:21982627 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22234757 PMID:22344629 PMID:22375149 PMID:22387070 PMID:22388998 PMID:22451204 PMID:22526844 PMID:22592100 PMID:22623374 PMID:22658918 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23430873 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:23757202 PMID:23811968 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24278166 PMID:24434810 PMID:24482953 PMID:24522292 PMID:24685312 PMID:24756352 PMID:24904648 PMID:25127542 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25326392 PMID:25333069 PMID:25435509 PMID:25456120 PMID:25525159 PMID:25535748 PMID:25558695 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25741913 PMID:25741914 PMID:25933391 PMID:25946768 PMID:26096741 PMID:26117366 PMID:26296077 PMID:26467025 PMID:26689913 PMID:26709268 PMID:26743617 PMID:26792850 PMID:26868973 PMID:26905200 PMID:27008851 PMID:27014572 PMID:27027900 PMID:27094865 PMID:27123474 PMID:27123476 PMID:27153395 PMID:27222815 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27571329 PMID:27632223 PMID:27682613 PMID:27717005 PMID:27735925 PMID:27790088 PMID:27802905 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28034821 PMID:28492532 PMID:28506293 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29091352 PMID:29140481 PMID:29423829 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29656334 PMID:29685539 PMID:29784561 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30169122 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30328501 PMID:30364808 PMID:30382391 PMID:30456712 PMID:30487145 PMID:30497978 PMID:30528841 PMID:30537300 PMID:30548430 PMID:30573413 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30764785 PMID:30941926 PMID:30949558 PMID:31010158 PMID:31026225 PMID:31130284 PMID:31130326 PMID:31188768 PMID:31216804 PMID:31256856 PMID:31561936 PMID:31662221 PMID:31996268 PMID:32014045 PMID:32035846 PMID:32042592 PMID:32165122 PMID:32618053 PMID:32658388 PMID:32677286 PMID:32714263 PMID:32866938 PMID:32883051 PMID:32888397 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33334373 PMID:33402667 PMID:33473340 PMID:33547828 PMID:33570220 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34017912 PMID:34072005 PMID:34073924 PMID:34275192 PMID:34426522 PMID:34586679 PMID:34649574 PMID:35639160 PMID:84325327 More...
NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
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GFAP
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr 9:18,569,868...18,579,463
Ensembl chr 9:18,569,892...18,579,461
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GPR37
G protein-coupled receptor 37
ISO
RGD
PMID:14991825
RGD:13504666
NCBI chr14:11,113,584...11,137,639
Ensembl chr14:11,114,415...11,132,395
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IGF1R
insulin like growth factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism mRNA:altered expression:brain:
CTD RGD
PMID:19276553
RGD:5129515
NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
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IGF2
insulin like growth factor 2
ISO
mRNA:decreased expression:frontal cortex CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19276553
RGD:5129515
NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
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IGF2R
insulin like growth factor 2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277
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INS
insulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
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INSR
insulin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
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KLK6
kallikrein related peptidase 6
ISO
RGD
PMID:12928483
RGD:1358597
NCBI chr 1:105,902,147...105,907,585
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MAG
myelin associated glycoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr 1:117,288,306...117,301,975
Ensembl chr 1:117,288,343...117,302,386
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MAP2
microtubule associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20024519 PMID:30236862
RGD:6483091
NCBI chr37:17,316,899...17,611,360
Ensembl chr37:17,466,678...17,607,803
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MMRN1
multimerin 1
ISO
ClinVar Annotator: match by term: Lewy body dementia
ClinVar
PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17625105 PMID:18195271 PMID:18852445 PMID:18852448 PMID:18852449 More...
NCBI chr32:13,111,043...13,184,681
Ensembl chr32:13,110,969...13,184,649
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NEFL
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:29368621 PMID:29391125
RGD:127284889 RGD:127285384
NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
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NGF
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
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NGFR
nerve growth factor receptor
ISO
protein:decreased expression:brain
RGD
PMID:8347330
RGD:10413896
NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
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NOS2
nitric oxide synthase 2
ISO
RGD
PMID:10674474
RGD:1358529
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288
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NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032
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PCNA
proliferating cell nuclear antigen
ISO
protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer:
RGD
PMID:20665591
RGD:10448971
NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
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PPARGC1A
PPARG coactivator 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30236862
NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
RGD
PMID:17467279
RGD:10412737
NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
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SEPTIN4
septin 4
ISO
RGD
PMID:12695511
RGD:13504670
NCBI chr 9:33,138,167...33,162,212
Ensembl chr 9:33,138,165...33,157,996
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SNCA
synuclein alpha
ISO
ClinVar Annotator: match by term: Lewy Body Disease | ClinVar Annotator: match by term: Lewy body dementia
OMIM ClinVar
PMID:9197268 PMID:9499430 PMID:9506559 PMID:9536098 PMID:9827625 PMID:10417297 PMID:11261505 PMID:11376188 PMID:12062037 PMID:14593171 PMID:14755719 PMID:14755720 PMID:15144854 PMID:15451224 PMID:15451225 PMID:15498564 PMID:15632170 PMID:16001411 PMID:16199547 PMID:16358335 PMID:17251522 PMID:17489854 PMID:17576681 PMID:17625105 PMID:18195271 PMID:18413475 PMID:18704525 PMID:18852445 PMID:18852448 PMID:18852449 PMID:19139307 PMID:19632874 PMID:19833540 PMID:20340137 PMID:21252228 PMID:21559878 PMID:23427326 PMID:23457019 PMID:23674501 PMID:23880019 PMID:24047453 PMID:24313877 PMID:24552873 PMID:24746362 PMID:24752924 PMID:24936070 PMID:25003242 PMID:25268550 PMID:25393002 PMID:25741868 PMID:25892596 PMID:26341711 PMID:26799529 PMID:26858591 PMID:27066564 PMID:27393118 PMID:28492532 PMID:28666710 PMID:29398121 PMID:29771508 PMID:30528390 PMID:30598256 PMID:32786148 PMID:33617693 More...
NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
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SNCB
synuclein beta
ISO
ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia
OMIM ClinVar
PMID:15365127 PMID:21045828 PMID:25741868 PMID:26332674 PMID:31589614 PMID:33760043 More...
NCBI chr 4:36,710,236...36,719,455
Ensembl chr 4:36,616,039...36,764,501
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SNCG
synuclein gamma
ISO
protein:increased expression:cerebrospinal fluid protein:increased expression:hippocampus
RGD
PMID:10557341 PMID:18577885 PMID:20697047
RGD:6478704 RGD:6478792 RGD:6480095
NCBI chr 4:34,604,867...34,608,851
Ensembl chr 4:34,605,091...34,608,842
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16141792
NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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TARDBP
TAR DNA binding protein
ISO
RGD
PMID:20669025
RGD:5687180
NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593
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TH
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30236862
NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
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VCP
valosin containing protein
ISO
ClinVar Annotator: match by term: Lewy body dementia
ClinVar
PMID:28492532
NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
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AQP9
aquaporin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29566083
NCBI chr30:23,223,413...23,271,893
Ensembl chr30:23,225,331...23,269,076
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IL17A
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31351185
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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INS
insulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26364587
NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
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AMBRA1
autophagy and beclin 1 regulator 1
ISO
protein:increased expression:brain
RGD
PMID:27875637
RGD:14390070
NCBI chr18:42,903,815...43,073,918
Ensembl chr18:42,932,513...43,072,827
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COQ2
coenzyme Q2, polyprenyltransferase
ISO
ClinVar Annotator: match by term: Multiple system atrophy
ClinVar
PMID:17420317 PMID:23758206 PMID:24988567 PMID:24988568 PMID:24988569 PMID:25548529 PMID:25594503 PMID:25741868 PMID:27493029 PMID:28492532 PMID:30613928 More...
NCBI chr32:7,143,476...7,162,765
Ensembl chr32:7,139,126...7,162,764
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FAS
Fas cell surface death receptor
ISO
protein:increased expression:precentral gyrus (human)
RGD
PMID:23372841
RGD:8663486
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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GDNF
glial cell derived neurotrophic factor
ISO
RGD
PMID:22281106
RGD:5688775
NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
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IGF2
insulin like growth factor 2
severity
ISO
RGD
PMID:20683839
RGD:5509960
NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
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KLK6
kallikrein related peptidase 6
ISO
RGD
PMID:12928483
RGD:1358597
NCBI chr 1:105,902,147...105,907,585
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MAPT
microtubule associated protein tau
ISO
ClinVar Annotator: match by term: Multiple system atrophy
ClinVar
PMID:25741868
NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
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MFN2
mitofusin 2
ISO
ClinVar Annotator: match by term: Multiple system atrophy, cerebellar type
ClinVar
PMID:25741868
NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
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MIR96
microRNA mir-96
ISO
RNA:increased expression:frontal cortex:
RGD
PMID:24304186
RGD:11553929
NCBI chr14:7,068,754...7,068,842
Ensembl chr14:7,068,754...7,068,842
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MT-III
transcription initiation factor TFIID subunit 4
ISO
protein: increased expression: visual cortex
RGD
PMID:20039155
RGD:6480516
NCBI chr 2:59,624,845...59,630,386
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SLC1A1
solute carrier family 1 member 1
ISO
protein:decreased expression:frontal cortex:
RGD
PMID:24304186
RGD:11553929
NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260
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SLC6A6
solute carrier family 6 member 6
ISO
protein:decreased expression:frontal cortex:
RGD
PMID:24304186
RGD:11553929
NCBI chr20:4,544,739...4,616,797
Ensembl chr20:4,531,771...4,620,605
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SNCA
synuclein alpha
ISO
protein:increased expression:oligodendrocyte
RGD
PMID:9749615
RGD:6480091
NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
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COQ2
coenzyme Q2, polyprenyltransferase
ISO
ClinVar Annotator: match by term: COQ2-related condition | ClinVar Annotator: match by term: Multiple system atrophy (MSA) with orthostatic hypotension | ClinVar Annotator: match by term: Multiple system atrophy 1, susceptibility to
OMIM ClinVar
PMID:16400613 PMID:17420317 PMID:17855635 PMID:23758206 PMID:24988567 PMID:24988568 PMID:25078619 PMID:25525159 PMID:25548529 PMID:25594503 PMID:25741868 PMID:27493029 PMID:28492532 PMID:28780565 PMID:30613928 More...
NCBI chr32:7,143,476...7,162,765
Ensembl chr32:7,139,126...7,162,764
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MAPT
microtubule associated protein tau
ISO
ClinVar Annotator: match by term: Multiple system atrophy (MSA) with orthostatic hypotension
ClinVar
PMID:25741868
NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
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APTX
aprataxin
ISO
DNA:missense mutations:cds:725G>A,457A>G(human)
RGD
PMID:21465257
RGD:10054301
NCBI chr11:50,111,003...50,155,937
Ensembl chr11:50,113,073...50,132,284
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CFAP96
cilia and flagella associated protein 96
ISO
ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia
ClinVar
PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208
NCBI chr16:45,175,351...45,208,647
Ensembl chr16:45,192,032...45,207,964
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TSEN54
tRNA splicing endonuclease subunit 54
ISO
ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia
ClinVar
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26701950 PMID:27430971 PMID:27570394 PMID:28492532 PMID:29410950 More...
NCBI chr 9:5,009,468...5,016,513
Ensembl chr 9:5,009,468...5,016,483
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UFSP2
UFM1 specific peptidase 2
ISO
ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia
ClinVar
PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208
NCBI chr16:45,208,741...45,230,041
Ensembl chr16:45,208,863...45,229,996
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ATXN1
ataxin 1
ISO
ClinVar Annotator: match by term: Spinocerebellar atrophy 1
ClinVar
PMID:25741868
NCBI chr35:15,458,498...15,863,829
Ensembl chr35:15,452,135...15,649,747
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ADAM33
ADAM metallopeptidase domain 33
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,668,377...17,682,217
Ensembl chr24:17,668,500...17,681,209
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ADISSP
adipose secreted signaling protein
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,586,111...17,600,147
Ensembl chr24:17,586,782...17,599,696
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ADRA1D
adrenoceptor alpha 1D
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,231,771...17,239,110
Ensembl chr24:17,213,643...17,214,761 Ensembl chr24:17,213,643...17,214,761
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AP5S1
adaptor related protein complex 5 subunit sigma 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,537,539...17,543,834
Ensembl chr24:17,537,544...17,543,901
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ATRN
attractin
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,698,238...17,859,810
Ensembl chr24:17,702,282...17,859,737
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AVP
arginine vasopressin
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,183,057...18,184,827
Ensembl chr24:18,183,057...18,184,883
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BMP2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:15,199,667...15,211,509
Ensembl chr24:15,200,291...15,212,217
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C24H20orf141
chromosome 24 C20orf141 homolog
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,444,215...18,446,862
Ensembl chr24:18,445,972...18,446,744
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CDC25B
cell division cycle 25B
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759
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CDS2
CDP-diacylglycerol synthase 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:16,407,869...16,469,855
Ensembl chr24:16,414,682...16,469,759
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CENPB
centromere protein B
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,569,440...17,572,311
Ensembl chr24:17,569,663...17,572,127
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CHGB
chromogranin B
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:15,917,215...15,930,222
Ensembl chr24:15,917,215...15,930,158
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CPXM1
carboxypeptidase X, M14 family member 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,453,874...18,460,350
Ensembl chr24:18,453,712...18,461,738
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CRLS1
cardiolipin synthase 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:15,814,111...15,837,485
Ensembl chr24:15,814,770...15,893,458
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DDRGK1
DDRGK domain containing 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,085,865...18,098,868
Ensembl chr24:18,084,725...18,097,157
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DNAAF9
dynein axonemal assembly factor 9
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,908,665...18,050,002
Ensembl chr24:17,908,741...18,048,116
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EBF4
EBF family member 4
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,469,862...18,528,305
Ensembl chr24:18,470,952...18,528,622
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FASTKD5
FAST kinase domains 5
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,124,249...18,136,415
Ensembl chr24:18,133,738...18,136,167
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FERMT1
FERM domain containing kindlin 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:15,748,632...15,785,025
Ensembl chr24:15,748,629...15,782,880
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GFRA4
GDNF family receptor alpha 4
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,685,888...17,690,747
Ensembl chr24:17,686,817...17,690,056
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GPCPD1
glycerophosphocholine phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:16,153,622...16,203,155
Ensembl chr24:16,148,035...16,220,757
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HSPA12B
heat shock protein family A (Hsp70) member 12B
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,600,541...17,619,902
Ensembl chr24:17,600,889...17,619,978
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IDH3B
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,556,437...18,561,399
Ensembl chr24:18,556,508...18,561,391
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ITPA
inosine triphosphatase
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
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LOC102151131
uncharacterized LOC102151131
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,217,294...18,222,755
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LRRN4
leucine rich repeat neuronal 4
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:15,801,220...15,810,954
Ensembl chr24:15,803,125...15,810,930
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LZTS3
leucine zipper tumor suppressor family member 3
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,111,188...18,122,246
Ensembl chr24:18,117,723...18,120,428
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MAVS
mitochondrial antiviral signaling protein
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:25741868 PMID:28492532
NCBI chr24:17,510,209...17,529,286
Ensembl chr24:17,512,761...17,523,807
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MCM8
minichromosome maintenance 8 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:15,850,602...15,893,452
Ensembl chr24:15,814,770...15,893,458
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MIR103-2
microRNA mir-103-2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:16272150 PMID:16437574 PMID:23968566 PMID:25741868 PMID:25802776 PMID:26087139 PMID:27185474 PMID:28492532 PMID:28781879 More...
NCBI chr24:17,468,354...17,468,430
Ensembl chr24:17,468,355...17,468,434
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MRPS26
mitochondrial ribosomal protein S26
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,215,055...18,216,993
Ensembl chr24:18,215,055...18,217,333
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NOP56
NOP56 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,561,407...18,566,770
Ensembl chr24:18,561,408...18,566,719
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OXT
oxytocin/neurophysin I prepropeptide
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,193,381...18,194,232
Ensembl chr24:18,193,339...18,194,170
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PANK2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | ClinVar Annotator: match by term: Pigmentary pallidal degeneration
OMIM ClinVar
PMID:1301187 PMID:1734303 PMID:3043782 PMID:7898702 PMID:9536098 PMID:11479594 PMID:12058097 PMID:12510040 PMID:12523119 PMID:12811783 PMID:14631201 PMID:14638969 PMID:14639680 PMID:14743358 PMID:15465096 PMID:15565311 PMID:15659606 PMID:15747360 PMID:15834858 PMID:15843062 PMID:15911822 PMID:16023068 PMID:16149094 PMID:16157712 PMID:16199547 PMID:16240131 PMID:16272150 PMID:16437574 PMID:16450344 PMID:16758184 PMID:16962235 PMID:17576681 PMID:17903678 PMID:18006953 PMID:18462962 PMID:19224615 PMID:20076801 PMID:20193558 PMID:20497339 PMID:20551478 PMID:20603201 PMID:20629144 PMID:20721927 PMID:20976082 PMID:21198414 PMID:21459825 PMID:21480873 PMID:21877312 PMID:22103354 PMID:22127788 PMID:22221393 PMID:22416811 PMID:22547525 PMID:22682757 PMID:23166001 PMID:23634310 PMID:23644322 PMID:23757202 PMID:23968566 PMID:24033266 PMID:24075960 PMID:24209433 PMID:24215330 PMID:24250886 PMID:24348190 PMID:24689511 PMID:24712887 PMID:24868354 PMID:25268133 PMID:25741868 PMID:25802776 PMID:25915509 PMID:26087139 PMID:26467025 PMID:26547561 PMID:26795593 PMID:26828213 PMID:27185474 PMID:27303611 PMID:27544236 PMID:27815806 PMID:28094106 PMID:28113101 PMID:28357202 PMID:28492532 PMID:28680084 PMID:28681788 PMID:28708303 PMID:28781879 PMID:28821231 PMID:28845923 PMID:28863176 PMID:28881514 PMID:29590070 PMID:29801903 PMID:30226968 PMID:30363610 PMID:30681573 PMID:31088771 PMID:31540697 PMID:32043823 PMID:32310012 PMID:32581362 PMID:32654475 PMID:32705819 PMID:32851917 PMID:33043782 PMID:33072517 PMID:33098801 PMID:33853092 PMID:34272103 PMID:35246191 More...
NCBI chr24:17,461,406...17,475,248
Ensembl chr24:17,463,447...17,490,360
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PCED1A
PC-esterase domain containing 1A
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,424,936...18,429,698
Ensembl chr24:18,424,901...18,429,652
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PCNA
proliferating cell nuclear antigen
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
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PDYN
prodynorphin
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:19,043,955...19,057,413
Ensembl chr24:19,053,870...19,056,364
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PRND
prion like protein doppel
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:16,822,807...16,828,473
Ensembl chr24:16,825,655...16,826,191
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PRNP
prion protein
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:16,845,224...16,862,319
Ensembl chr24:16,846,207...16,859,815
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PROKR2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:16,351,912...16,364,139
Ensembl chr24:16,351,806...16,375,217
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PTPRA
protein tyrosine phosphatase receptor type A
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,224,355...18,395,650
Ensembl chr24:18,224,801...18,296,350
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RASSF2
Ras association domain family member 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:16,736,786...16,779,910
Ensembl chr24:16,736,962...16,781,569
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RNF24
ring finger protein 24
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,378,996...17,459,249
Ensembl chr24:17,405,328...17,454,790
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SHLD1
shieldin complex subunit 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:15,957,863...16,037,336
Ensembl chr24:15,957,852...16,038,008
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SIGLEC1
sialic acid binding Ig like lectin 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,636,143...17,667,791
Ensembl chr24:17,636,026...17,666,854
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SLC23A2
solute carrier family 23 member 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:16,573,616...16,709,296
Ensembl chr24:16,574,168...16,709,296
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SLC4A11
solute carrier family 4 member 11
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,057,437...18,068,420
Ensembl chr24:18,057,517...18,068,425
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SMOX
spermine oxidase
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,240,910...17,291,258
Ensembl chr24:17,252,537...17,300,451
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SNCA
synuclein alpha
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
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SNCB
synuclein beta
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr 4:36,710,236...36,719,455
Ensembl chr 4:36,616,039...36,764,501
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SNCG
synuclein gamma
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr 4:34,604,867...34,608,851
Ensembl chr 4:34,605,091...34,608,842
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SNRPB
small nuclear ribonucleoprotein polypeptides B and B1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,673,975...18,683,315
Ensembl chr24:18,674,039...18,683,229
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SPEF1
sperm flagellar 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:17,572,457...17,580,006
Ensembl chr24:17,574,741...17,578,439
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STK35
serine/threonine kinase 35
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,913,746...18,958,240
Ensembl chr24:18,753,651...18,958,221
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TGM3
transglutaminase 3
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,753,638...18,793,780
Ensembl chr24:18,753,651...18,958,221
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TGM6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,698,016...18,721,975
Ensembl chr24:18,700,099...18,721,930
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TMC2
transmembrane channel like 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,576,966...18,642,204
Ensembl chr24:18,578,138...18,642,198
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TMEM230
transmembrane protein 230
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:16,486,514...16,496,180
Ensembl chr24:16,486,574...16,495,491
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TMEM239
transmembrane protein 239
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,444,215...18,445,838
Ensembl chr24:18,444,918...18,445,376
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TRMT6
tRNA methyltransferase 6 non-catalytic subunit
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:15,836,359...15,905,147
Ensembl chr24:15,893,335...15,903,889
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UBOX5
U-box domain containing 5
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,124,237...18,166,506
Ensembl chr24:18,157,429...18,165,966
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VPS16
VPS16 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,401,440...18,424,605
Ensembl chr24:18,399,572...18,424,510
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ZNF343
zinc finger protein 343
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr24:18,659,505...18,665,685
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A2M
alpha-2-macroglobulin
onset
ISO
DNA:polymorphism: :p.I1000V (human)
RGD
PMID:12133586
RGD:10046014
NCBI chr27:36,654,328...36,695,775
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ABCB1
ATP binding cassette subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20558393
NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
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ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
protein:increased phosphorylation:striatum: protein:increased expression:brain:
RGD
PMID:20823226 PMID:24412932
RGD:8693409 RGD:8693592
NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
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ACHE
acetylcholinesterase
ISO
RGD
PMID:19474411
RGD:5509846
NCBI chr 6:8,874,747...8,879,926
Ensembl chr 6:8,873,584...8,879,702
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ADARB2
adenosine deaminase RNA specific B2 (inactive)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr 2:33,510,081...33,848,968
Ensembl chr 2:33,510,961...33,847,412
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ADCY5
adenylate cyclase 5
ISO
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr33:26,345,617...26,490,120
Ensembl chr33:26,345,617...26,504,616
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AFDN
afadin, adherens junction formation factor
ISO
protein:decreased expression: caudate-putamen, substantia nigra
RGD
PMID:23393160
RGD:13838733
NCBI chr 1:55,435,451...55,535,534
Ensembl chr 1:55,435,472...55,535,543
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AGTR1
angiotensin II receptor type 1
ISO
protein:decreased expression:caudate nucleus,putamen,substantia nigra:
RGD
PMID:8666063
RGD:10047397
NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
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AIF1
allograft inflammatory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr12:1,104,350...1,106,179
Ensembl chr12:1,104,394...1,106,177
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AKT1
AKT serine/threonine kinase 1
no_association
ISO
protein:altered expression:brain DNA:SNPs:introns:multiple (human) DNA:SNPs, haplotype:introns:multiple (human)
RGD
PMID:18395980 PMID:19800394 PMID:21741444
RGD:5509064 RGD:5509074 RGD:5509076
NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
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ALDH2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24491970
NCBI chr26:9,319,109...9,361,021
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ANXA5
annexin A5
ISO
protein:decreased expression:cerebrospinal fluid:
RGD
PMID:10584677
RGD:10053728
NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378
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APAF1
apoptotic peptidase activating factor 1
ISO
RGD
PMID:24835407
RGD:13503333
NCBI chr15:38,026,893...38,160,842
Ensembl chr15:38,028,132...38,114,987
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APOA1
apolipoprotein A1
ISO
protein: altered expression: cerebrospinal fluid: 2 different isoforms
RGD
PMID:20085559
RGD:5508216
NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
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APOE
apolipoprotein E
ISO
protein:increased expression:neuron:
RGD
PMID:21907175
RGD:7771591
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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ARPC3
actin related protein 2/3 complex subunit 3
treatment
ISO
RGD
PMID:20713051
RGD:11049454
NCBI chr26:8,267,123...8,277,779
Ensembl chr26:8,267,196...8,277,688
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ATG7
autophagy related 7
ISO
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr20:6,916,354...7,154,849
Ensembl chr20:6,916,515...7,154,800
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ATM
ATM serine/threonine kinase
ISO
protein:increased serine phosphorylation:cingulate gyrus
RGD
PMID:20502937
RGD:10053605
NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
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ATP13A2
ATPase cation transporting 13A2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:23628791 PMID:25149416 PMID:26223426
RGD:10450518
NCBI chr 2:81,196,355...81,215,736
Ensembl chr 2:81,196,463...81,215,689
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AXIN2
axin 2
ameliorates
ISO
RGD
PMID:31078578
RGD:151356747
NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530
G
B2M
beta-2-microglobulin
ISO
protein:increased expression:corpus striatum
RGD
PMID:7605592
RGD:6482706
NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997
G
BAG5
BAG cochaperone 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28348719
NCBI chr 8:71,318,730...71,324,743
Ensembl chr 8:71,321,625...71,322,992
G
BDNF
brain derived neurotrophic factor
no_association
ISO
DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:substantia nigra pars compacta:
RGD CTD
PMID:10208589 PMID:16565926 PMID:19276553
RGD:10059346 RGD:8657025
NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
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BGLAP
bone gamma-carboxyglutamate protein
ISO
protein:decreased expression:serum
RGD
PMID:16114020
RGD:7207224
NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
G
BST1
bone marrow stromal cell antigen 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19915576
NCBI chr 3:64,617,903...64,641,131
Ensembl chr 3:64,618,740...64,641,038 Ensembl chr 3:64,618,740...64,641,038
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CASP3
caspase 3
treatment
ISO
RGD
PMID:16505307
RGD:13503345
NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
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CASP9
caspase 9
ISO
protein:increased activity:blood, leukocyte
RGD
PMID:16505307
RGD:13503345
NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
G
CAST
calpastatin
ISO
DNA:SNP:intron: (rs1559085) (human) protein:decreased expression:substantia nigra, dopaminergic neuron
RGD
PMID:10722997 PMID:20127884
RGD:5509800 RGD:5683320
NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959
G
CCK
cholecystokinin
no_association
ISO
RGD
PMID:10668930
RGD:1626086
NCBI chr23:11,414,254...11,419,990
Ensembl chr23:11,414,249...11,454,198
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CCN2
cellular communication network factor 2
ISO
protein:increased expression:substantia nigra (rat)
RGD
PMID:19463894
RGD:2314505
NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
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CNTNAP2
contactin associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416
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COL19A1
collagen type XIX alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr12:32,452,653...32,760,310
Ensembl chr12:32,449,744...32,755,226
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COX10
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
ISO
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr 5:37,853,495...37,982,228
Ensembl chr 5:37,852,875...37,982,243
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CP
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19159062 PMID:25758665
NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369
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CREB1
cAMP responsive element binding protein 1
ISO
protein:decreased phosphorylation:striatum
RGD
PMID:25583483
RGD:401960857
NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556
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CRH
corticotropin releasing hormone
ISO
protein:decreased expression:cerebral cortex (human)
RGD
PMID:3502064
RGD:5508835
NCBI chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384
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CRIPTO
cripto, EGF-CFC family member
treatment
ISO
RGD
PMID:20641036
RGD:11561895
NCBI chr20:42,137,939...42,140,590
G
CRP
C-reactive protein
ISO
RGD
PMID:22426659
RGD:6482307
NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
G
CYP1A1
cytochrome P450 family 1 subfamily A member 1
susceptibility no_association
ISO
DNA:missense mutation:cds:p.I462V (human) DNA:polymorphisms (human)
RGD
PMID:8872868 PMID:11484167 PMID:11793160
RGD:5147678 RGD:5147679 RGD:5147681
NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
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CYP2D15
cytochrome P450 family 2 subfamily D member 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14991823 PMID:15174030
NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298
G
CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16510128
NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
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DBH
dopamine beta-hydroxylase
susceptibility
ISO
DNA:snp:5' utr:g.-1021C>T (human) protein:increased expression:frontal cortex (human)
RGD
PMID:14991826 PMID:19276553
RGD:1358583 RGD:5129515
NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130
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DBN1
drebrin 1
treatment
ISO
levodopainduced; protein:increased expression:striatum:
RGD
PMID:23241013
RGD:10398811
NCBI chr 4:35,899,969...35,913,015
Ensembl chr 4:35,889,392...35,912,507
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DDC
dopa decarboxylase
ISO
CTD Direct Evidence: therapeutic human gene in a rat model protein:altered expression:arcuate nucleus ((rat)
RGD CTD
PMID:2969953 PMID:9853519 PMID:11445284 PMID:12703659 PMID:15935614
RGD:4139893 RGD:5129121 RGD:5129231
NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616
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DDIT4
DNA damage inducible transcript 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17005863
NCBI chr 4:22,916,718...22,918,893
Ensembl chr 4:22,916,096...22,964,035
G
DDOST
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
ISO
ClinVar Annotator: match by term: Parkinson Disease, Recessive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:78,268,540...78,275,789
Ensembl chr 2:78,267,912...78,294,463
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DDR2
discoidin domain receptor tyrosine kinase 2
treatment
ISO
RGD
PMID:28863860
RGD:150519888
NCBI chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275
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DLA-DRA
MHC class II DR alpha chain
onset
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:intron: (rs3129882) (human)
CTD RGD
PMID:20711177
RGD:5490158
NCBI chr12:2,133,026...2,137,825
Ensembl chr12:2,132,499...2,168,975
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DLG1
discs large MAGUK scaffold protein 1
ISO
protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles
RGD
PMID:15703272
RGD:2306834
NCBI chr33:30,016,323...30,253,180
Ensembl chr33:30,016,600...30,253,547
G
DLG4
discs large MAGUK scaffold protein 4
ISO
protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles
RGD
PMID:15703272
RGD:2306834
NCBI chr 5:32,165,399...32,175,600
Ensembl chr 5:32,163,594...32,188,126
G
DNAJB6
DnaJ heat shock protein family (Hsp40) member B6
ISO
ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:19,792,957...19,849,299
Ensembl chr16:19,768,639...19,848,139
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DNAJC13
DnaJ heat shock protein family (Hsp40) member C13
ISO
RGD
PMID:25701813
RGD:10450845
NCBI chr23:29,389,120...29,506,339
Ensembl chr23:29,389,979...29,506,343
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DNAJC6
DnaJ heat shock protein family (Hsp40) member C6
ISO
RGD
PMID:25639775
RGD:10450521
NCBI chr 5:44,882,111...45,021,152
Ensembl chr 5:44,884,283...45,120,203
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DNM1L
dynamin 1 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28215578
NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957
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DRAXIN
dorsal inhibitory axon guidance protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr 2:84,515,881...84,525,797
Ensembl chr 2:84,515,811...84,526,387
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DRD1
dopamine receptor D1
treatment
ISO
protein:decreased expression:striatum (rat) CTD Direct Evidence: therapeutic
RGD CTD
PMID:8558425 PMID:16365282 PMID:23041629
RGD:7248455 RGD:7248595
NCBI chr 4:37,550,454...37,554,641
Ensembl chr 4:37,549,708...37,553,287
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DRD2
dopamine receptor D2
ISO
protein:increased expression:striatum (rat) OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 CTD Direct Evidence: therapeutic
RGD MouseDO CTD
PMID:8558425 PMID:18289173
RGD:2311585
NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241
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DRD3
dopamine receptor D3
severity
ISO
mRNA:decreased expression:blood, lymphocyte protein:increased expression:blood, lymphocyte
RGD
PMID:8618685 PMID:10495037
RGD:5686418 RGD:5686419
NCBI chr33:18,369,362...18,414,465
Ensembl chr33:18,372,865...18,412,277
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DRD5
dopamine receptor D5
ISO
protein:increased expression:blood, lymphocyte
RGD
PMID:10495037
RGD:5686418
NCBI chr 3:69,621,187...69,623,522
Ensembl chr 3:69,621,734...69,623,893
G
EDN1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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EGF
epidermal growth factor
disease_progression
ISO
RGD
PMID:21520231
RGD:10059679
NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
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EGFR
epidermal growth factor receptor
ISO
protein:decreased expression:forebrain
RGD
PMID:15857400
RGD:2289955
NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
G
EIF2AK2
eukaryotic translation initiation factor 2 alpha kinase 2
ISO
RGD
PMID:15567511
RGD:10395348
NCBI chr17:29,494,641...29,537,933
Ensembl chr17:29,496,128...29,537,933
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EN1
engrailed homeobox 1
ISO
DNA:SNP:enhancer: (rs1438852) (human)
RGD MouseDO
PMID:19345444
RGD:5687197
NCBI chr19:31,124,325...31,129,538
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ENO2
enolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30236862
NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182
G
EPHX1
epoxide hydrolase 1
no_association
ISO
DNA:missense mutation:exon:p.Y113H (human) DNA:missense mutations:exons:p.Y113H (499T>C), p.H139R (578A>G) (human)
RGD
PMID:10720475 PMID:11692079
RGD:5490167 RGD:5688390
NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238
G
EPHX2
epoxide hydrolase 2
no_association
ISO
DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human)
RGD
PMID:11692079
RGD:5688390
NCBI chr25:30,045,040...30,107,110
Ensembl chr25:30,045,291...30,107,110
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EPO
erythropoietin
treatment
ISO
RGD
PMID:19727138
RGD:10400901
NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
protein:decreased expression:forebrain
RGD
PMID:15857400
RGD:2289955
NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
G
ESR2
estrogen receptor 2
onset
ISO
DNA:polymorphism: :1730A>G(human)
RGD
PMID:15219649
RGD:5508776
NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
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FAS
Fas cell surface death receptor
ISO
protein:decreased expression:neurones of the substantia nigra pars:
RGD
PMID:11054182
RGD:12903948
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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FASLG
Fas ligand
ISO
protein:increased expression:substantia nigra pars compacta, striatum (rat) protein:decreased expression:neurones of the substantia nigra pars:
RGD
PMID:11054182 PMID:17959308
RGD:12903948 RGD:2290172
NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
G
FBP1
fructose-bisphosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18353766
NCBI chr 1:72,099,886...72,125,266
Ensembl chr 1:72,099,881...72,125,224
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FBXO7
F-box protein 7
ISO
ClinVar Annotator: match by term: Parkinson Disease, Recessive
ClinVar
NCBI chr10:30,928,059...30,948,858
Ensembl chr10:30,928,329...30,948,977
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FCER2
Fc epsilon receptor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr20:52,451,637...52,460,045
Ensembl chr20:52,449,922...52,457,805
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FEZ1
fasciculation and elongation protein zeta 1
ISO
RGD
PMID:23888906
RGD:13208826
NCBI chr 5:9,001,927...9,044,330
Ensembl chr 5:9,001,989...9,044,332
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FGB
fibrinogen beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23233872
NCBI chr15:52,220,690...52,228,526
Ensembl chr15:52,220,611...52,228,250
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GAK
cyclin G associated kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20711177
NCBI chr 3:91,575,537...91,630,715
Ensembl chr 3:91,574,751...91,630,663
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GBA1
glucosylceramidase beta 1
onset no_association
ISO
DNA:missense mutation:cds:p.N370S (human) ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human)
RGD ClinVar
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 PMID:2117855 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7789963 PMID:7981693 PMID:8160756 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8929950 PMID:9375849 PMID:9516376 PMID:9554746 PMID:9556036 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11336129 PMID:12482401 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:16293621 PMID:16967369 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20528910 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:21228398 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24522292 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25456120 PMID:25525159 PMID:25535748 PMID:25653295 PMID:25741868 PMID:25741914 PMID:26096741 PMID:26296077 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31130284 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34134921 PMID:34275192 More...
RGD:5508427 RGD:5508429
NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
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GDF5
growth differentiation factor 5
treatment
ISO
mRNA:increased expression:striatum:
RGD
PMID:22436046 PMID:24373993
RGD:12738227 RGD:12738228
NCBI chr24:24,395,699...24,400,302
Ensembl chr24:24,395,263...24,399,928
G
GDNF
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: therapeutic mRNA:increased expression:putamen
CTD RGD
PMID:11031079 PMID:16324109 PMID:16644101
RGD:6218968
NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
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GFAP
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr 9:18,569,868...18,579,463
Ensembl chr 9:18,569,892...18,579,461
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GJC2
gap junction protein gamma 2
treatment
ISO
RGD
PMID:21561882
RGD:13208520
NCBI chr14:810,388...819,248
Ensembl chr14:810,386...820,420
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GPR37
G protein-coupled receptor 37
ISO
RGD
PMID:14991825
RGD:13504666
NCBI chr14:11,113,584...11,137,639
Ensembl chr14:11,114,415...11,132,395
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GPX1
glutathione peroxidase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15824117
NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
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GRK2
G protein-coupled receptor kinase 2
ISO
Protein: decreased expression: brain
RGD
PMID:17996024
RGD:5685370
NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428
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GRK3
G protein-coupled receptor kinase 3
ISO
protein:decreased expression:caudate putamen (rat)
RGD
PMID:17996024
RGD:5685370
NCBI chr26:19,385,059...19,512,528
Ensembl chr26:19,385,058...19,516,077
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GRK5
G protein-coupled receptor kinase 5
no_association
ISO
protein: decreased expression: brain DNA: snps: :rs871196, rs2420616, rs7069375, rs4752293
RGD
PMID:17125886 PMID:17996024 PMID:21184589
RGD:5685370 RGD:5688382 RGD:5688384
NCBI chr28:29,424,350...29,636,552
Ensembl chr28:29,424,593...29,632,741
G
GRK6
G protein-coupled receptor kinase 6
ISO
human gene in rat model protein: decreased expression: brain
RGD
PMID:17996024 PMID:22090514
RGD:5684916 RGD:5685370
NCBI chr 4:35,927,470...35,943,218
Ensembl chr 4:35,913,472...35,943,221
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GRN
granulin precursor
no_association
ISO
protein:decreased expression:serum DNA:SNP:3' utr:*78C>T (rs5848) (human)
RGD
PMID:19473366 PMID:23398167
RGD:10401642 RGD:10401644
NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268
G
GSK3B
glycogen synthase kinase 3 beta
treatment
ISO
RGD
PMID:23094836
RGD:10045553
NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666
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GSTA4
glutathione S-transferase alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16510128
NCBI chr12:20,426,724...20,443,200
Ensembl chr12:20,426,726...20,443,200
G
GSTO1
glutathione S-transferase omega 1
onset susceptibility
ISO
DNA:polymorphism:exon:p. A140D (rs4925) (human)
RGD
PMID:14570706 PMID:17194543
RGD:1358651 RGD:5490299
NCBI chr28:16,569,421...16,579,239
Ensembl chr28:16,569,066...16,619,880
G
GSTO2
glutathione S-transferase omega 2
susceptibility onset
ISO
DNA:polymorphism: : -183 A>G (rs2297235)(human) DDNA:polymorphism: : -183 A>G (rs2297235)(human)
RGD
PMID:14570706 PMID:17194543
RGD:1358651 RGD:5490299
NCBI chr28:16,580,250...16,604,977
Ensembl chr28:16,586,777...16,604,976
G
GSTP1
glutathione S-transferase pi 1
ISO
DNA:del: : CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9802272 PMID:17190945 PMID:23721876
RGD:1358669
NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
G
HCN3
hyperpolarization activated cyclic nucleotide gated potassium channel 3
ISO
mRNA:increased expression:neuron:
RGD
PMID:19320057
RGD:9693679
NCBI chr 7:42,272,756...42,282,770
Ensembl chr 7:42,273,571...42,282,595
G
HFE
homeostatic iron regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16824219
NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413
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HGF
hepatocyte growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16791285
NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
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HLA-DRB1
MHC class II DLA DRB1 beta chain
ISO
DNA:polymorphism: :HLA-DRB1*03 (human)
RGD
PMID:20462916
RGD:5147576
NCBI chr12:2,151,409...2,164,564
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HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:18184918
RGD:5508459
NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
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HMOX1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21318773
NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
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HNMT
histamine N-methyltransferase
no_association
ISO
RGD
PMID:17985251 PMID:19773194
RGD:5509775 RGD:5509778
NCBI chr19:40,656,266...40,702,498
Ensembl chr19:40,655,161...40,702,218
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HSF1
heat shock transcription factor 1
treatment
ISO
protein:decreased expression:midbrain (rat)
RGD
PMID:24296154 PMID:24852355
RGD:10402545 RGD:10402753
NCBI chr13:37,724,741...37,745,259
Ensembl chr13:37,724,759...37,745,252
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HSPA4
heat shock protein family A (Hsp70) member 4
ISO
protein:decreased expression:striatum (rat)
RGD
PMID:22186119
RGD:5686884
NCBI chr11:21,290,603...21,363,701
Ensembl chr11:21,290,621...21,505,122
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HSPA8
heat shock protein family A (Hsp70) member 8
ISO
protein: decreased expression protein: increased expression: brain
RGD
PMID:17241115 PMID:18704197 PMID:20697033
RGD:6218982 RGD:6480203 RGD:6480228
NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797
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HSPA9
heat shock protein family A (Hsp70) member 9
disease_progression
ISO
DNA:mutation:cds:A>T476(human) protein:decreased expression:brain CTD Direct Evidence: marker/mechanism DNA:mutations:multiple:
RGD CTD
PMID:16565515 PMID:18219256 PMID:19657588 PMID:20817635
RGD:6784528 RGD:6784529 RGD:6784530 RGD:6784531
NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434
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HSPD1
heat shock protein family D (Hsp60) member 1
ISO
RGD
PMID:23943523
RGD:10402846
NCBI chr37:7,010,421...7,025,912
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HTR1A
5-hydroxytryptamine receptor 1A
ISO
RGD
PMID:20508280
RGD:5683633
NCBI chr 2:50,005,277...50,006,548
Ensembl chr 2:50,002,740...50,006,548
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HTRA2
HtrA serine peptidase 2
no_association
ISO
DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human) DNA:missense mutation:cds:p.R404W (human) DNA:missense mutation:cds:p.S276C (mouse) DNA:missense mutations:cds:p.A141S, p.G399S (human) DNA:missense mutation:cds:p.P143A (human)
RGD
PMID:14534547 PMID:15509788 PMID:15961413 PMID:18364387 PMID:18401856 PMID:21338583 PMID:21701785 More...
RGD:5688367 RGD:5688381 RGD:5688392 RGD:5688393 RGD:5688394 RGD:5688395 RGD:5688714
NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399
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HTT
huntingtin
ISO
RGD
PMID:26192120
RGD:13452383
NCBI chr 3:61,076,934...61,221,462
Ensembl chr 3:61,079,904...61,330,290
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IGF1R
insulin like growth factor 1 receptor
ISO
protein: altered activity CTD Direct Evidence: marker/mechanism mRNA:altered expression:brain:
RGD CTD
PMID:19276553 PMID:19703168
RGD:5129515 RGD:5686429
NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
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IGF2
insulin like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:frontal cortex
CTD RGD
PMID:19276553
RGD:5129515
NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
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IGF2R
insulin like growth factor 2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277
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IL1B
interleukin 1 beta
ISO
RGD
PMID:12070246 PMID:23159314
RGD:1358742 RGD:7175549
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21318773
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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INS
insulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
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INSR
insulin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
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KCNJ4
potassium inwardly rectifying channel subfamily J member 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18619942
NCBI chr10:26,321,274...26,348,978
Ensembl chr10:26,347,140...26,348,486
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KCNN2
potassium calcium-activated channel subfamily N member 2
ISO
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr11:4,279,362...4,423,080
Ensembl chr11:4,154,746...4,423,078
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KLK6
kallikrein related peptidase 6
ISO
RGD
PMID:12928483
RGD:1358597
NCBI chr 1:105,902,147...105,907,585
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L1CAM
L1 cell adhesion molecule
ISO
RGD
PMID:19995872
RGD:6483033
NCBI chr X:121,708,695...121,722,819
Ensembl chr X:121,708,894...121,733,365
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LEP
leptin
treatment
ISO
rat protein in a mouse model
RGD
PMID:17895242
RGD:10053631
NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
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LOC106558887
60S ribosomal protein L23a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18353766
NCBI chr 6:11,192,720...11,193,214
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LOC609402
hemoglobin subunit beta-like
ISO
protein:decreased expression:brain, mitochondrion
RGD
PMID:24333691
RGD:10449046
NCBI chr21:28,187,535...28,188,991
G
LRRK2
leucine rich repeat kinase 2
no_association susceptibility
ISO
DNA:missense mutation:cds:p.G2019S (human) ClinVar Annotator: match by term: Parkinson Disease, Dominant | ClinVar Annotator: match by term: Parkinson disease DNA:missense mutation:cds:p.R1398H (human)
RGD ClinVar
PMID:16172858 PMID:16633828 PMID:17019612 PMID:17659642 PMID:18688798 PMID:18704525 PMID:19357115 PMID:19741132 PMID:19800393 PMID:20186690 PMID:20301387 PMID:21159540 PMID:21483109 PMID:22612223 PMID:24033266 PMID:25027012 PMID:25243190 PMID:25741868 PMID:26467025 PMID:28103901 PMID:28492532 More...
RGD:5508406 RGD:5508409
NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870
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MAG
myelin associated glycoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr 1:117,288,306...117,301,975
Ensembl chr 1:117,288,343...117,302,386
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MAOA
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17449559
NCBI chr X:37,678,933...37,744,757
Ensembl chr X:37,677,493...37,744,757
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MAOB
monoamine oxidase B
ISO
CTD Direct Evidence: marker/mechanism protein:increased activity:striatum (rat)
CTD RGD
PMID:9129714 PMID:17417741 PMID:21318773
RGD:1358484 RGD:2316771
NCBI chr X:37,765,810...37,883,955
Ensembl chr X:37,765,813...37,883,955
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MAP2
microtubule associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30236862
NCBI chr37:17,316,899...17,611,360
Ensembl chr37:17,466,678...17,607,803
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MAP3K5
mitogen-activated protein kinase kinase kinase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21815648
NCBI chr 1:29,107,813...29,306,437
Ensembl chr 1:29,108,591...29,306,503
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MAPK1
mitogen-activated protein kinase 1
ISO
protein:decreased phosphorylation:striatum
RGD
PMID:25583483
RGD:401960857
NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
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MAPK3
mitogen-activated protein kinase 3
ISO
protein:decreased phosphorylation:striatum
RGD
PMID:25583483
RGD:401960857
NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
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MAPT
microtubule associated protein tau
susceptibility
ISO
DNA:SNP:intron: (rs8070723) (human) ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease
RGD ClinVar
PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 PMID:10100642 PMID:10214944 PMID:10219785 PMID:10627302 PMID:10767321 PMID:10821687 PMID:10932182 PMID:11013246 PMID:11115852 PMID:11255441 PMID:11402146 PMID:11756436 PMID:12473404 PMID:15489396 PMID:15831501 PMID:17526496 PMID:19458322 PMID:20561037 PMID:22022446 PMID:22221882 PMID:22723997 PMID:25319522 PMID:25592136 PMID:25741868 PMID:26220942 PMID:26269332 PMID:26467025 PMID:26519432 PMID:27439681 PMID:28268100 PMID:28492532 PMID:30528841 PMID:32843152 More...
RGD:8158107
NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
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MINAR2
membrane integral NOTCH2 associated receptor 2
ISO
MouseDO
NCBI chr11:18,506,042...18,531,187
Ensembl chr11:18,507,059...18,524,589
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MIR1-2
microRNA mir-1-2
ISO
RGD
PMID:21295623
RGD:10755488
NCBI chr 7:66,214,380...66,214,438
Ensembl chr 7:66,214,366...66,214,450
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MIR132
microRNA mir-132
ISO
RGD
PMID:25553963
RGD:10450788
NCBI chr 9:46,153,531...46,153,590
Ensembl chr 9:46,153,511...46,153,611
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MIR155
microRNA mir-155
ISO
RNA:increased expression: plasma extracellular vesicle
RGD
PMID:32326590
RGD:41404531
NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
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MIR181C
microRNA mir-181c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28770951
NCBI chr20:48,593,343...48,593,403
Ensembl chr20:48,593,325...48,593,421
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MIR19B-1
microRNA mir-19b-1
ISO
RGD
PMID:22003392
RGD:10755479
NCBI chr22:42,478,598...42,478,656
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MIR21
microRNA mir-21
ISO
RNA:increased expression: plasma extracellular vesicle
RGD
PMID:32326590
RGD:41404531
NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
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MIR22
microRNA mir-22
ISO
RGD
PMID:21295623
RGD:10755488
NCBI chr 9:45,852,534...45,852,593
Ensembl chr 9:45,852,517...45,852,609
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MIR29B-1
microRNA mir-29b-1
ISO
RGD
PMID:22003392
RGD:10755479
NCBI chr14:6,184,457...6,184,521
Ensembl chr14:6,184,446...6,184,531
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MIR301A
microRNA mir-301a
ISO
RGD
PMID:22003392
RGD:10755479
NCBI chr 9:33,724,572...33,724,655
Ensembl chr 9:33,724,571...33,724,655
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MIR34B
microRNA mir-34b
ISO
RGD
PMID:21558425
RGD:10755477
NCBI chr 5:21,558,685...21,558,768
Ensembl chr 5:21,558,685...21,558,768
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MIR34C
microRNA mir-34c
ISO
RGD
PMID:21558425
RGD:10755477
NCBI chr 5:21,558,106...21,558,160
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MT-ATP6
mitochondrially encoded ATP synthase membrane subunit 6
susceptibility
ISO
DNA:SNP:cds:m.9055A>G (human)
RGD
PMID:12618962
RGD:5490292
NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
no_association
ISO
DNA:missense mutation:cds:m.4216T>C (human) mRNA:decreased expression:substantia nigra, neuron
RGD
PMID:11022854 PMID:11506395 PMID:16784756
RGD:5148018 RGD:5508706 RGD:8657117
NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
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MT-ND2
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
ISO
DNA:missense mutation::m.5460G>A DNA:point mutation: :m.5460G>A (human)
RGD
PMID:8723226 PMID:10737123
RGD:2302313 RGD:5507832
NCBI chr MT:3,914...4,955
Ensembl chr MT:3,914...4,957
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MT-ND3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO
ClinVar Annotator: match by term: Parkinson disease, resistance to
ClinVar
PMID:6343397 PMID:17066297
NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842
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MT-ND4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
DNA:missense mutations: :11253T>C, 12084C>T (human)
RGD
PMID:10737123
RGD:5507832
NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578
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MTA1
metastasis associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27044752
NCBI chr 8:72,752,894...72,772,236
Ensembl chr 8:72,753,178...72,772,762
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30726997
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :1049A>G (human)
RGD
PMID:21070756
RGD:5508183
NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312
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NANOG
Nanog homeobox
treatment
ISO
mouse gene in a rat model;mRNA, protein:increased expression:embryonic stem cell
RGD
PMID:24954161
RGD:9681444
NCBI chr27:37,262,558...37,266,449
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NCAPG2
non-SMC condensin II complex subunit G2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr16:20,649,088...20,712,208
Ensembl chr16:20,649,489...20,712,208
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NDUFA13
NADH:ubiquinone oxidoreductase subunit A13
ISO
RGD
PMID:26605748
RGD:13504667
NCBI chr20:43,721,568...43,730,607
Ensembl chr20:43,721,640...43,730,295
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NDUFB8
NADH:ubiquinone oxidoreductase subunit B8
ISO
RGD
PMID:26605748
RGD:13504667
NCBI chr28:13,249,067...13,253,670
Ensembl chr28:13,249,070...13,253,619
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NDUFS1
NADH:ubiquinone oxidoreductase core subunit S1
onset
ISO
protein:increased oxidation:brain, mitochondrion (mouse)
RGD
PMID:21196577
RGD:6484690
NCBI chr37:14,680,908...14,713,838
Ensembl chr37:14,683,083...14,713,754
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NDUFS4
NADH:ubiquinone oxidoreductase subunit S4
ISO
RGD
PMID:21383081
RGD:6484691
NCBI chr 4:61,613,580...61,727,219
Ensembl chr 4:61,613,589...61,727,205
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NDUFV2
NADH:ubiquinone oxidoreductase core subunit V2
susceptibility
ISO
DNA:polymorphism: :p.A29V
RGD
PMID:9570948
RGD:2302386
NCBI chr 7:75,150,293...75,184,084
Ensembl chr 7:75,150,415...75,184,067
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NECTIN2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr 1:110,543,140...110,569,168
Ensembl chr 1:110,543,247...110,569,143
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NEDD8
NEDD8 ubiquitin like modifier
ISO
RGD
PMID:12533840
RGD:1549458
NCBI chr 8:4,202,621...4,213,090
Ensembl chr 8:4,202,621...4,213,049
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NEFL
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:29391125
RGD:127285384
NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
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NGF
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276553
NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
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NGFR
nerve growth factor receptor
ISO
protein:decreased expression:brain
RGD
PMID:8347330
RGD:10413896
NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
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NOS1
nitric oxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism RNA, protein:increased expression:neutrophil
CTD RGD
PMID:11020342 PMID:11809160 PMID:26383258
RGD:1358519 RGD:5132632
NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
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NOS2
nitric oxide synthase 2
ISO
protein:increased expression:striatum (mouse)
RGD
PMID:21970803
RGD:5509573
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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NOX1
NADPH oxidase 1
ameliorates
ISO
RGD
PMID:23077033
RGD:329961565
NCBI chr X:74,784,627...74,811,796
Ensembl chr X:74,785,168...74,811,698
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NQO1
NAD(P)H quinone dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17188257
NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
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NQO2
N-ribosyldihydronicotinamide:quinone dehydrogenase 2
susceptibility
ISO
DNA:deletion:promoter: (human)
RGD
PMID:18314446
RGD:11073691
NCBI chr35:3,294,776...3,315,438
Ensembl chr35:3,294,850...3,312,836
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NR4A1
nuclear receptor subfamily 4 group A member 1
treatment
ISO
compared to wild-type and untreated
RGD
PMID:29530712
RGD:40924655
NCBI chr27:2,947,729...2,965,045
Ensembl chr27:2,891,053...2,955,655
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NR4A2
nuclear receptor subfamily 4 group A member 2
ISO
ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive | ClinVar Annotator: match by term: Parkinson's disease
ClinVar
PMID:23066323 PMID:25741868 PMID:28492532
NCBI chr36:2,546,237...2,554,559
Ensembl chr36:2,547,421...2,552,780
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NTSR1
neurotensin receptor 1
ISO
RGD
PMID:7700529
RGD:9743906
NCBI chr24:46,576,690...46,615,192
Ensembl chr24:46,576,501...46,615,206
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OGG1
8-oxoguanine DNA glycosylase
ISO
protein:increased expression:substantia nigra, neuron
RGD
PMID:15841414
RGD:8657142
NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
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OPTN
optineurin
ISO
protein:increased expression:substantia nigra (rat)
RGD
PMID:27473339
RGD:13432580
NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
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ORC6
origin recognition complex subunit 6
ISO
ClinVar Annotator: match by term: Parkinson Disease, Dominant
ClinVar
PMID:25741868
NCBI chr15:8,421,297...8,427,972
Ensembl chr15:8,421,318...8,427,821
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PARK7
Parkinsonism associated deglycase
onset
ISO
DNA:missense mutation, deletion: :L166P ClinVar Annotator: match by term: Parkinson Disease, Recessive
RGD ClinVar
PMID:12851414 PMID:12953260 PMID:20981092 PMID:26467025 PMID:27884173 PMID:28492532 More...
RGD:1601073
NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303
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PARP1
poly(ADP-ribose) polymerase 1
no_association susceptibility
ISO
DNA:snps:multiple (human) DNA:polymorphisms:promoter, exon:g.-410C>T, g.845_846dupAC (human)
RGD
PMID:17362997 PMID:21767974
RGD:5510021 RGD:5510024
NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
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PENK
proenkephalin
ISO
mRNA:increased expression:striatum:
RGD
PMID:11501038
RGD:10003114
NCBI chr29:7,757,543...7,763,137
Ensembl chr29:7,757,857...7,762,398
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PHACTR2
phosphatase and actin regulator 2
ISO
DNA: snp: intron: rs11155313
RGD
PMID:19429005
RGD:6483095
NCBI chr 1:35,158,678...35,348,875
Ensembl chr 1:35,088,248...35,342,584
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PINK1
PTEN induced kinase 1
ISO
ClinVar Annotator: match by term: Parkinson Disease, Recessive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:78,276,091...78,293,761
Ensembl chr 2:78,277,077...78,294,123
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PITX3
paired like homeodomain 3
ISO
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
RGD MouseDO
PMID:18573342
RGD:11535079
NCBI chr28:14,760,741...14,775,584
Ensembl chr28:14,761,094...14,762,716
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PLA2G6
phospholipase A2 group VI
no_association onset
ISO
DNA:missense mutation:cds:p.P806R (c.2417C>G) (human) DNA:missense muations, nonsense mutation: :p.F72L, p.Q452X, p.R635Q (human)
RGD
PMID:20938027 PMID:21368765
RGD:6482733 RGD:6482734
NCBI chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087
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POLG
DNA polymerase gamma, catalytic subunit
onset
ISO
associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: : associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutation:cds:p.K512M(human) DNA:missense mutations:exons:p.R853W,p.G737R(human)
RGD
PMID:15351195 PMID:16634032 PMID:23865558
RGD:8694175 RGD:8694201 RGD:8694203
NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
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PPARGC1A
PPARG coactivator 1 alpha
onset
ISO
DNA:SNPs:intron, 3' utr: (rs2970848, rs6821591) (human) CTD Direct Evidence: marker/mechanism
RGD MouseDO CTD
PMID:21376232 PMID:21595954 PMID:30236862
RGD:6484270 RGD:6484271
NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
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PPP1R9B
protein phosphatase 1 regulatory subunit 9B
ISO
protein:altered localization:striate nucleus (rat)
RGD
PMID:18372251
RGD:10043801
NCBI chr 9:26,135,982...26,152,303
Ensembl chr 9:26,137,464...26,151,810
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PPP2CA
protein phosphatase 2 catalytic subunit alpha
ISO
protein:decreased tyrosine phosphorylation:brain (human)
RGD
PMID:24395787
RGD:8693390
NCBI chr11:22,388,327...22,410,052
Ensembl chr11:22,385,257...22,410,052
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PRKN
parkin RBR E3 ubiquitin protein ligase
treatment
ISO
DNA:deletions:exons: (human) DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism protein:increased tyrosine-phosphorylation:substantia nigra, striatum,
RGD CTD
PMID:9560156 PMID:12588799 PMID:12629236 PMID:15198987 PMID:15882845 PMID:16573651 PMID:16914382 PMID:17010972 PMID:19946270 PMID:20823226 PMID:22043175 PMID:22841634 PMID:23628791 PMID:24582596 PMID:25149416 PMID:25631236 PMID:25639775 PMID:26223426 PMID:28284907 PMID:28526446 PMID:28583715 PMID:28695462 More...
RGD:10413859 RGD:10450518 RGD:10450521 RGD:13432207 RGD:13432563 RGD:13432567 RGD:737763 RGD:8693409 RGD:9693725
NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
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PTGIS
prostaglandin I2 synthase
treatment
ISO
human gene in a rat model
RGD
PMID:23691265
RGD:401959749
NCBI chr24:36,129,091...36,162,525
Ensembl chr24:36,132,173...36,162,509
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PTN
pleiotrophin
treatment
ISO
RGD
PMID:19615368
RGD:10044022
NCBI chr16:11,283,078...11,382,820
Ensembl chr16:11,283,077...11,382,814
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RPL14
ribosomal protein L14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18353766
NCBI chr23:9,907,479...9,911,114
Ensembl chr23:9,907,479...9,911,114
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RPL6
ribosomal protein L6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18353766
NCBI chr26:9,970,416...9,975,897
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RPS8
ribosomal protein S8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18353766
NCBI chr15:15,542,569...15,545,285
Ensembl chr15:15,542,580...15,545,163
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RRN3
RRN3 homolog, RNA polymerase I transcription factor
ISO
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr 6:28,478,770...28,507,722
Ensembl chr 6:28,478,829...28,507,696
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S100B
S100 calcium binding protein B
ISO
RGD
PMID:21402140 PMID:21725169
RGD:5508763 RGD:5508766
NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
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SDHA
succinate dehydrogenase complex flavoprotein subunit A
ISO
protein:decreased expression:substantia nigra, neuron
RGD
PMID:26605748
RGD:13504667
NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
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SEPTIN14
septin 14
susceptibility
ISO
DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human)
RGD
PMID:27115672
RGD:13504669
NCBI chr18:25,103,092...25,201,880
Ensembl chr18:25,121,175...25,202,140
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SEPTIN4
septin 4
ISO
RGD
PMID:12695511
RGD:13504670
NCBI chr 9:33,138,167...33,162,212
Ensembl chr 9:33,138,165...33,157,996
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SERPINF1
serpin family F member 1
severity
ISO
protein:increased expression:serum, extracellular exosome (human)
RGD
PMID:31593110
RGD:27226691
NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
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SLC11A2
solute carrier family 11 member 2
ISO
DNA:polymorphism:cds:1254T>C(human)
RGD
PMID:19011085 PMID:21777657
RGD:5688403 RGD:5688713
NCBI chr27:3,788,785...3,823,852
Ensembl chr27:3,787,855...3,822,672
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SLC18A2
solute carrier family 18 member A2
resistance
ISO
DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human) CTD Direct Evidence: marker/mechanism mRNA:decreased expression:substantia nigra (rat) protein:decreased expression:putamen, caudate nucleus, striatum (human)
RGD CTD
PMID:11463816 PMID:16112329 PMID:16269145 PMID:16339215 PMID:16421508 PMID:21291984 PMID:34774656 More...
RGD:5129143 RGD:5131086 RGD:5131163 RGD:5131165 RGD:5131167
NCBI chr28:27,731,709...27,809,341
Ensembl chr28:27,731,004...27,767,993
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SLC30A10
solute carrier family 30 member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25149416
NCBI chr38:14,705,517...14,746,835
Ensembl chr38:14,709,866...14,747,540
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SLC38A2
solute carrier family 38 member 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:35728354
NCBI chr27:8,056,289...8,068,988
Ensembl chr27:8,018,880...8,066,331
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SLC6A3
solute carrier family 6 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9763484 PMID:16112329 PMID:16963468 PMID:19590691
NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742
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SNCA
synuclein alpha
ISO
ClinVar Annotator: match by term: Parkinson Disease, Dominant
ClinVar
PMID:23427326 PMID:23457019 PMID:24047453 PMID:24752924 PMID:24936070 PMID:25393002 PMID:25741868 PMID:26341711 PMID:28492532 PMID:29398121 PMID:30528390 More...
NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
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SNCAIP
synuclein alpha interacting protein
ISO
ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive
ClinVar
PMID:12761037 PMID:18366718 PMID:21344240 PMID:24033266 PMID:28492532
NCBI chr11:12,226,940...12,375,725
Ensembl chr11:12,301,719...12,375,560
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SNCB
synuclein beta
onset
ISO
DNA:SNP: :rs1352303(human) protein:increased expression:hippocampus
RGD
PMID:10557341 PMID:17556099
RGD:6478793 RGD:6480095
NCBI chr 4:36,710,236...36,719,455
Ensembl chr 4:36,616,039...36,764,501
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SNCG
synuclein gamma
ISO
protein:increased expression:hippocampus
RGD
PMID:10557341
RGD:6480095
NCBI chr 4:34,604,867...34,608,851
Ensembl chr 4:34,605,091...34,608,842
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SOD1
superoxide dismutase 1
treatment
ISO
human gene in a rat model CTD Direct Evidence: marker/mechanism|therapeutic
RGD CTD
PMID:15824117 PMID:16353238 PMID:21318773
RGD:8655933
NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
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SOD2
superoxide dismutase 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11161607 PMID:17188257 PMID:18353766 PMID:25279756
RGD:13464352
NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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SPR
sepiapterin reductase
ISO
OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251
MouseDO
NCBI chr17:49,950,192...49,957,455
Ensembl chr17:49,950,800...49,957,417
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SRRM2
serine/arginine repetitive matrix 2
ISO
mRNA:splice variants:substantia nigra, amygdala, peripheral blood mononuclear cell (human)
RGD
PMID:20161708
RGD:11038728
NCBI chr 6:38,291,847...38,310,624
Ensembl chr 6:38,291,842...38,393,924
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SYNJ1
synaptojanin 1
ISO
RGD
PMID:25639775
RGD:10450521
NCBI chr31:27,308,169...27,399,226
Ensembl chr31:27,308,169...27,399,197
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TALDO1
transaldolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23233872
NCBI chr18:25,764,138...25,772,043
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TARDBP
TAR DNA binding protein
ISO
DNA:mutation:cds:p.A382T (human)
RGD
PMID:20551689 PMID:21667065
RGD:5687172 RGD:5687183
NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593
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TCL1B
TCL1 family AKT coactivator B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25475535
NCBI chr 8:64,497,560...64,500,412
Ensembl chr 8:64,497,560...64,500,412
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TCN2
transcobalamin 2
ISO
RGD
PMID:20027219
RGD:11060125
NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832
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TFAM
transcription factor A, mitochondrial
no_association susceptibility
ISO
DNA:missense mutation, SNP:exon, intron:p.S12T, IVS4+113A>G (rs1937, rs2306604) (human) OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) DNA:missense mutation:exon:p.S12T (rs1937) (human)
RGD MouseDO
PMID:17537576 PMID:18248889 PMID:19925850
RGD:14389730 RGD:6771184 RGD:6771185
NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058
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TH
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:substantia nigra (mouse) human gene in a rat model protein:decreased expression:midbrain, neuron (rat) protein:decreased expression:striatum (human)
CTD RGD
PMID:2573072 PMID:9853519 PMID:15857400 PMID:21323909 PMID:21376343 PMID:30236862 More...
RGD:2289955 RGD:5128607 RGD:5128616 RGD:5129120 RGD:5129121
NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
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TMEM230
transmembrane protein 230
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27270108
NCBI chr24:16,486,514...16,496,180
Ensembl chr24:16,486,574...16,495,491
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21318773
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
mRNA:decreased expression:midbrain, dopaminergic neuron (mouse)
RGD
PMID:19780901
RGD:5130931
NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
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TNK2
tyrosine kinase non receptor 2
ISO
ClinVar Annotator: match by term: Parkinson disease
ClinVar
PMID:23686771 PMID:25741868 PMID:26595808 PMID:28492532
NCBI chr33:29,153,636...29,177,568
Ensembl chr33:29,152,851...29,179,718
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TNR
tenascin R
ISO
ClinVar Annotator: match by term: Parkinson disease
ClinVar
PMID:26122175 PMID:26595808 PMID:28492532 PMID:33278868
NCBI chr 7:23,721,227...24,125,183
Ensembl chr 7:24,019,095...24,122,530
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TRPM2
transient receptor potential cation channel subfamily M member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27957685
NCBI chr31:38,201,075...38,224,076
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UCHL1
ubiquitin C-terminal hydrolase L1
ISO
ClinVar Annotator: match by term: Parkinson Disease, Dominant
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:71,396,694...71,430,395
Ensembl chr 3:71,370,822...71,411,350
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VDAC1
voltage dependent anion channel 1
ISO
RGD
PMID:24825319
RGD:13504672
NCBI chr11:22,197,814...22,212,924
Ensembl chr11:22,197,949...22,212,924
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VDR
vitamin D receptor
onset
ISO
DNA:polymorphisms: :rs4334089, rs2853559(human)
RGD
PMID:21309754
RGD:13217419
NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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VIP
vasoactive intestinal peptide
ISO
RGD
PMID:19476518
RGD:5685606
NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700
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VPS13C
vacuolar protein sorting 13 homolog C
ISO
ClinVar Annotator: match by term: Parkinson disease
ClinVar
PMID:26942284
NCBI chr30:26,600,181...26,776,347
Ensembl chr30:26,601,513...26,776,763
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VPS35
VPS35 retromer complex component
ISO
ClinVar Annotator: match by term: Parkinson Disease, Dominant
ClinVar
PMID:25741868
NCBI chr15:8,428,073...8,454,601
Ensembl chr15:8,428,172...8,454,049
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MMRN1
multimerin 1
ISO
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1
ClinVar
PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17625105 PMID:18195271 PMID:18852445 PMID:18852448 PMID:18852449 More...
NCBI chr32:13,111,043...13,184,681
Ensembl chr32:13,110,969...13,184,649
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SNCA
synuclein alpha
ISO
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1
OMIM ClinVar
PMID:9197268 PMID:9462735 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 PMID:11261505 PMID:11376188 PMID:12062037 PMID:14593171 PMID:14755720 PMID:15144854 PMID:15451224 PMID:15451225 PMID:16358335 PMID:17251522 PMID:17489854 PMID:17625105 PMID:18195271 PMID:18704525 PMID:18852445 PMID:18852448 PMID:18852449 PMID:19632874 PMID:20340137 PMID:20437567 PMID:21252228 PMID:21559878 PMID:23404372 PMID:23427326 PMID:23457019 PMID:23526723 PMID:24047453 PMID:24158904 PMID:24158909 PMID:24313877 PMID:24315198 PMID:24728187 PMID:24746362 PMID:24936070 PMID:24984882 PMID:25268550 PMID:25393002 PMID:25741868 PMID:25892596 PMID:26306801 PMID:26341711 PMID:26799529 PMID:26858591 PMID:27066564 PMID:27393118 PMID:28492532 PMID:29398121 PMID:30528390 PMID:31267130 PMID:33617693 More...
NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
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GIGYF2
GRB10 interacting GYF protein 2
ISO
ClinVar Annotator: match by term: GIGYF2-related condition | ClinVar Annotator: match by term: Parkinson disease 11, autosomal dominant, susceptibility to
OMIM ClinVar
PMID:18358451 PMID:18923002 PMID:19133664 PMID:19250854 PMID:19279319 PMID:19449032 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26152800 More...
NCBI chr25:44,317,540...44,453,761
Ensembl chr25:44,317,517...44,452,064
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AUP1
AUP1 lipid droplet regulating VLDL assembly factor
ISO
ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to
ClinVar
PMID:18401856 PMID:18790661
NCBI chr17:48,613,648...48,617,091
Ensembl chr17:48,613,725...48,616,728
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HTRA2
HtrA serine peptidase 2
ISO
ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to
OMIM ClinVar
PMID:15961413 PMID:18364387 PMID:18401856 PMID:18790661 PMID:19118185 PMID:21163861 PMID:21338583 PMID:21701785 PMID:25422467 PMID:25741868 PMID:28492532 More...
NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399
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LOXL3
lysyl oxidase like 3
ISO
ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to
ClinVar
PMID:15961413 PMID:18364387 PMID:18790661 PMID:19118185 PMID:21163861 PMID:25422467 PMID:25741868 PMID:28492532 More...
NCBI chr17:48,590,996...48,610,264
Ensembl chr17:48,591,768...48,610,392
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PLA2G6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 | ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET
OMIM ClinVar
PMID:2668131 PMID:16783378 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:20186954 PMID:20301718 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20938027 PMID:21368765 PMID:21700586 PMID:21812034 PMID:22213678 PMID:23182313 PMID:24088041 PMID:24745848 PMID:25326635 PMID:25660576 PMID:25741868 PMID:26001724 PMID:26196026 PMID:26467025 PMID:26633545 PMID:26668131 PMID:26755131 PMID:27127721 PMID:27268037 PMID:27378808 PMID:27942883 PMID:28295203 PMID:28492532 PMID:28716262 PMID:29395073 PMID:29472584 PMID:29859652 PMID:29913018 PMID:30065071 PMID:30232368 PMID:30302010 PMID:30340910 PMID:30619057 PMID:32581362 PMID:32707456 PMID:32771225 PMID:32860008 PMID:33279242 PMID:33619735 PMID:34168672 PMID:34272103 PMID:34622992 PMID:35861376 PMID:36499697 More...
NCBI chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087
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SLC39A14
solute carrier family 39 member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36152728
NCBI chr25:34,854,371...34,901,030
Ensembl chr25:34,846,653...34,869,695
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FBXO7
F-box protein 7
ISO
ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 PMID:20603184 PMID:21347293 PMID:23352116 PMID:23933751 PMID:24112787 PMID:25029497 PMID:25085748 PMID:25169713 PMID:25174650 PMID:25741868 PMID:26310625 PMID:26882974 PMID:27294386 PMID:27503909 PMID:28492532 PMID:29174172 PMID:30502028 PMID:31965297 More...
NCBI chr10:30,928,059...30,948,858
Ensembl chr10:30,928,329...30,948,977
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MYLK3
myosin light chain kinase 3
ISO
ClinVar Annotator: match by term: Parkinson disease 17
ClinVar
PMID:28492532
NCBI chr15:8,382,436...8,416,740
Ensembl chr15:8,381,854...8,416,368
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ORC6
origin recognition complex subunit 6
ISO
ClinVar Annotator: match by term: Parkinson disease 17
ClinVar
PMID:28492532
NCBI chr15:8,421,297...8,427,972
Ensembl chr15:8,421,318...8,427,821
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VPS35
VPS35 retromer complex component
ISO
ClinVar Annotator: match by term: Parkinson disease 17
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:18342564 PMID:21763482 PMID:21763483 PMID:22154191 PMID:22517097 PMID:22801713 PMID:22991136 PMID:23125461 PMID:23408866 PMID:23411763 PMID:24740878 PMID:25288323 PMID:25533483 PMID:25741868 PMID:26251041 PMID:26321632 PMID:27385586 PMID:28166811 PMID:28492532 PMID:28796472 PMID:28862745 PMID:32613234 More...
NCBI chr15:8,428,073...8,454,601
Ensembl chr15:8,428,172...8,454,049
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DNAJC6
DnaJ heat shock protein family (Hsp40) member C6
ISO
ClinVar Annotator: match by term: Juvenile onset Parkinson disease 19A | ClinVar Annotator: match by term: PARK19 | ClinVar Annotator: match by term: Parkinson disease 19B, early-onset
OMIM ClinVar
PMID:2256350 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22563501 PMID:23211418 PMID:24220513 PMID:25640679 PMID:25741868 PMID:26528954 PMID:26703368 PMID:28191889 PMID:28492532 PMID:31737044 PMID:32214227 PMID:32472658 PMID:32662538 PMID:33983693 More...
NCBI chr 5:44,882,111...45,021,152
Ensembl chr 5:44,884,283...45,120,203
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GATAD2B
GATA zinc finger domain containing 2B
ISO
ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:43,201,307...43,295,868
Ensembl chr 7:43,254,305...43,294,211
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LRRK2
leucine rich repeat kinase 2
ISO
ClinVar Annotator: match by term: Young-onset Parkinson disease
ClinVar
PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 PMID:15811455 PMID:15852371 PMID:15929036 PMID:15955629 PMID:16001413 PMID:16102999 PMID:16115731 PMID:16145815 PMID:16157901 PMID:16172858 PMID:16240353 PMID:16269541 PMID:16311269 PMID:16401756 PMID:16436781 PMID:16436782 PMID:16533964 PMID:16728648 PMID:16750377 PMID:16960813 PMID:16966501 PMID:16966502 PMID:17050822 PMID:17060595 PMID:17215492 PMID:17353388 PMID:17938369 PMID:18539534 PMID:18539535 PMID:18704525 PMID:18981379 PMID:18986508 PMID:19020907 PMID:19283415 PMID:20008657 PMID:20197411 PMID:20301387 PMID:21115957 PMID:21280089 PMID:21753163 PMID:21850687 PMID:22539006 PMID:22575234 PMID:23075850 PMID:23472874 PMID:24033266 PMID:24148854 PMID:24243757 PMID:25330418 PMID:25741868 PMID:26062626 PMID:26251043 PMID:26467025 PMID:28465860 PMID:28492532 PMID:28639421 PMID:29386392 PMID:29402177 More...
NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870
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PACRG
parkin coregulated
ISO
ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation | ClinVar Annotator: match by term: Young-onset Parkinson disease
ClinVar
PMID:12116199 PMID:12707451 PMID:12730996 PMID:15606901 PMID:16328510 PMID:16643317 PMID:19162522 PMID:19636047 PMID:20399249 PMID:21348451 PMID:21694720 PMID:21993715 PMID:25741868 PMID:25833766 PMID:26467025 PMID:26683220 PMID:28492532 PMID:33045815 PMID:33150996 PMID:33166806 More...
NCBI chr 1:51,202,146...51,717,076
Ensembl chr 1:51,202,164...51,717,070
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PARK7
Parkinsonism associated deglycase
ISO
ClinVar Annotator: match by term: Young-onset Parkinson disease
ClinVar
PMID:25741868
NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303
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PODXL
podocalyxin like
ISO
ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2
ClinVar
PMID:26864383
NCBI chr14:5,614,006...5,625,360
Ensembl chr14:5,590,478...5,625,360
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation | ClinVar Annotator: match by term: Young-onset Parkinson disease
OMIM ClinVar
PMID:7565830 PMID:9560156 PMID:9634531 PMID:9731209 PMID:9802278 PMID:9851438 PMID:10072423 PMID:10319889 PMID:10824074 PMID:10894217 PMID:10939576 PMID:10983716 PMID:11009195 PMID:11163284 PMID:11179010 PMID:11222808 PMID:11402119 PMID:11405814 PMID:11487568 PMID:11558785 PMID:11889248 PMID:11971093 PMID:12056932 PMID:12114481 PMID:12116199 PMID:12397156 PMID:12629236 PMID:12707451 PMID:12707457 PMID:12730996 PMID:12764050 PMID:12764051 PMID:12781588 PMID:12891670 PMID:12973932 PMID:12975291 PMID:14519684 PMID:14639672 PMID:15090472 PMID:15193026 PMID:15197707 PMID:15254940 PMID:15266615 PMID:15390068 PMID:15606901 PMID:15642853 PMID:15729528 PMID:15816865 PMID:15823482 PMID:15970950 PMID:16049031 PMID:16086186 PMID:16130111 PMID:16227559 PMID:16269266 PMID:16328510 PMID:16339143 PMID:16367892 PMID:16476817 PMID:16500134 PMID:16606767 PMID:16643317 PMID:16714300 PMID:16769863 PMID:16793319 PMID:17095157 PMID:17187375 PMID:17415800 PMID:17766365 PMID:17914726 PMID:18211709 PMID:18413468 PMID:18485927 PMID:18486522 PMID:18514563 PMID:18519021 PMID:18554280 PMID:18685134 PMID:18785233 PMID:18927607 PMID:18951541 PMID:18973255 PMID:19006224 PMID:19087301 PMID:19162522 PMID:19205068 PMID:19351622 PMID:19405094 PMID:19636047 PMID:19715670 PMID:19801972 PMID:19891003 PMID:19922375 PMID:19946270 PMID:20301651 PMID:20399249 PMID:20404107 PMID:20457763 PMID:20558392 PMID:20604804 PMID:20643691 PMID:20798600 PMID:21215313 PMID:21322020 PMID:21348451 PMID:21534944 PMID:21625934 PMID:21681106 PMID:21694720 PMID:21993715 PMID:21996382 PMID:22118943 PMID:22233331 PMID:22243833 PMID:22302706 PMID:22523156 PMID:22555654 PMID:22766139 PMID:22777964 PMID:22956510 PMID:22995991 PMID:23275044 PMID:23531835 PMID:23727886 PMID:23751051 PMID:23770917 PMID:23818421 PMID:23835509 PMID:23880019 PMID:23986421 PMID:24033266 PMID:24082139 PMID:24167364 PMID:24375549 PMID:24647965 PMID:24677602 PMID:24816432 PMID:24831986 PMID:25045378 PMID:25174650 PMID:25238391 PMID:25284222 PMID:25558820 PMID:25591737 PMID:25640679 PMID:25741868 PMID:25815004 PMID:25833766 PMID:25877876 PMID:25907632 PMID:25939424 PMID:26116755 PMID:26161729 PMID:26188007 PMID:26274610 PMID:26467025 PMID:26556299 PMID:26631732 PMID:26683220 PMID:26764160 PMID:26830385 PMID:26836416 PMID:26855076 PMID:27094865 PMID:27177722 PMID:27182553 PMID:27206984 PMID:27294386 PMID:27534820 PMID:27776828 PMID:28492532 PMID:28862745 PMID:29353703 PMID:29530980 PMID:29606608 PMID:29910155 PMID:29967542 PMID:30099245 PMID:30200940 PMID:30502028 PMID:30537300 PMID:30609409 PMID:30994895 PMID:31147223 PMID:31182772 PMID:31217084 PMID:31285534 PMID:31324919 PMID:31409571 PMID:31429726 PMID:31660654 PMID:31695088 PMID:31929871 PMID:32214227 PMID:32442813 PMID:32870915 PMID:32970363 PMID:33045815 PMID:33150996 PMID:33166806 PMID:33497488 PMID:33845304 PMID:34426522 PMID:35640906 PMID:35954270 More...
NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
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ATP5PO
ATP synthase peripheral stalk subunit OSCP
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:28,472,106...28,481,759
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CFAP298
cilia and flagella associated protein 298
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:27,296,841...27,305,941
Ensembl chr31:27,286,376...27,305,608
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CLIC6
chloride intracellular channel 6
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:30,003,448...30,102,939
Ensembl chr31:30,091,335...30,100,842
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CRYZL1
crystallin zeta like 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:29,109,017...29,144,432
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DNAJC28
DnaJ heat shock protein family (Hsp40) member C28
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:28,113,339...28,117,705
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DONSON
DNA replication fork stabilization factor DONSON
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:28,192,338...28,209,512
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EPCIP
exosomal polycystin 1 interacting protein
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:27,457,591...27,496,423
Ensembl chr31:27,460,093...27,460,752
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EVA1C
eva-1 homolog C
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:27,176,246...27,256,810
Ensembl chr31:27,177,136...27,256,293
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HUNK
hormonally up-regulated Neu-associated kinase
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:26,723,823...26,830,420
Ensembl chr31:26,748,351...26,828,778
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IFNAR1
interferon alpha and beta receptor subunit 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:28,854,765...28,876,399
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IFNAR2
interferon alpha and beta receptor subunit 2
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:27,860,094...27,891,361
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IFNGR2
interferon gamma receptor 2
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:28,909,930...28,948,742
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IL10RB
interleukin 10 receptor subunit beta
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:28,791,541...28,815,163
Ensembl chr31:27,892,394...27,915,637
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ITSN1
intersectin 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:29,144,754...29,360,134
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KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:29,858,428...29,868,315
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KCNE2
potassium voltage-gated channel subfamily E regulatory subunit 2
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:29,777,154...29,777,839
Ensembl chr31:29,581,658...29,777,525
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LOC487740
trifunctional purine biosynthetic protein adenosine-3
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:29,032,399...29,063,706
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MIS18A
MIS18 kinetochore protein A
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:27,025,657...27,039,001
Ensembl chr31:27,025,709...27,039,028
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MRAP
melanocortin 2 receptor accessory protein
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:27,058,469...27,085,704
Ensembl chr31:27,058,366...27,087,573
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OLIG1
oligodendrocyte transcription factor 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:27,718,925...27,721,301
Ensembl chr31:27,719,026...27,719,862
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OLIG2
oligodendrocyte transcription factor 2
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:27,674,112...27,677,521
Ensembl chr31:27,674,107...27,676,822
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PAXBP1
PAX3 and PAX7 binding protein 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:27,405,547...27,439,839
Ensembl chr31:27,406,492...27,439,844
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POLG
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:18414213 PMID:21357833 PMID:21880868 PMID:25741868 PMID:26467025 PMID:28337550 PMID:28492532 PMID:28776642 PMID:32391929 PMID:34426522 PMID:36325100 More...
NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
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RCAN1
regulator of calcineurin 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:29,908,046...30,002,412
Ensembl chr31:29,909,388...30,002,418
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RUNX1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
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SCAF4
SR-related CTD associated factor 4
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:26,546,801...26,583,040
Ensembl chr31:26,547,108...26,636,811
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SLC5A3
solute carrier family 5 member 3
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:28,610,332...28,635,233
Ensembl chr31:28,610,332...28,635,233
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SMIM11
small integral membrane protein 11
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:29,781,693...29,818,886
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SOD1
superoxide dismutase 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
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SON
SON DNA and RNA binding protein
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:28,165,758...28,198,692
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SPG11
SPG11 vesicle trafficking associated, spatacsin
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:19105190 PMID:20110243 PMID:22154821 PMID:23733235 PMID:25741868 PMID:26556829 PMID:28492532 More...
NCBI chr30:11,233,709...11,305,454
Ensembl chr30:11,233,718...11,305,485
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SYNJ1
synaptojanin 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
OMIM ClinVar
PMID:9536098 PMID:11413010 PMID:16199547 PMID:17576681 PMID:23804563 PMID:23804577 PMID:24609975 PMID:24816432 PMID:25316601 PMID:25741868 PMID:25741905 PMID:26046367 PMID:26467025 PMID:27393345 PMID:27435091 PMID:27496670 PMID:27869329 PMID:28135719 PMID:28421333 PMID:28492532 PMID:29163333 PMID:31440721 PMID:32707456 PMID:35861376 More...
NCBI chr31:27,308,169...27,399,226
Ensembl chr31:27,308,169...27,399,197
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TIAM1
TIAM Rac1 associated GEF 1
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:26,058,858...26,440,059
Ensembl chr31:25,932,697...26,202,756
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TMEM50B
transmembrane protein 50B
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:28,061,730...28,117,485
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URB1
URB1 ribosome biogenesis homolog
ISO
ClinVar Annotator: match by term: Early-onset Parkinson disease 20
ClinVar
PMID:28492532
NCBI chr31:27,087,196...27,158,144
Ensembl chr31:27,087,570...27,158,164
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DNAJC13
DnaJ heat shock protein family (Hsp40) member C13
ISO
ClinVar Annotator: match by term: Parkinson disease 21
ClinVar
PMID:24218364 PMID:25118025 PMID:27270108 PMID:28492532
NCBI chr23:29,389,120...29,506,339
Ensembl chr23:29,389,979...29,506,343
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CHCHD2
coiled-coil-helix-coiled-coil-helix domain containing 2
ISO
ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant
OMIM ClinVar
PMID:25662902 PMID:25741868 PMID:26067110 PMID:26067113 PMID:26561290 PMID:27269965 PMID:28432706 PMID:28492532 PMID:28589937 PMID:30496485 PMID:30530185 PMID:31600778 PMID:32068847 PMID:35173147 PMID:35402650 More...
NCBI chr 6:581,276...585,367
Ensembl chr 6:581,280...585,301
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VPS13C
vacuolar protein sorting 13 homolog C
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 23
OMIM ClinVar
PMID:25741868 PMID:26942284 PMID:28492532
NCBI chr30:26,600,181...26,776,347
Ensembl chr30:26,601,513...26,776,763
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PTPA
protein phosphatase 2 phosphatase activator
ISO
ClinVar Annotator: match by term: Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development
OMIM ClinVar
PMID:36073231
NCBI chr 9:54,535,186...54,568,632
Ensembl chr 9:54,536,180...54,566,235
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SNCA
synuclein alpha
ISO
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4
OMIM ClinVar
PMID:11376188 PMID:21559878 PMID:25741868 PMID:26858591 PMID:28492532 PMID:33617693 More...
NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
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UCHL1
ubiquitin C-terminal hydrolase L1
ISO
ClinVar Annotator: match by term: Parkinson disease 5, autosomal dominant, susceptibility to
ClinVar OMIM
PMID:4514348 PMID:9774100 PMID:10203348 PMID:10563640 PMID:12408865 PMID:15048890 PMID:16450370 PMID:18411255 PMID:18550537 PMID:19864305 PMID:21268678 PMID:22839974 PMID:25741868 PMID:28007905 PMID:28492532 More...
NCBI chr 3:71,396,694...71,430,395
Ensembl chr 3:71,370,822...71,411,350
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AKR7A2
aldo-keto reductase family 7 member A2
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:79,334,179...79,343,880
Ensembl chr 2:79,334,205...79,343,007
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ALDH4A1
aldehyde dehydrogenase 4 family member A1
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540
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ALPL
alkaline phosphatase, biomineralization associated
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:77,559,791...77,614,102
Ensembl chr 2:77,559,791...77,614,820
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C1QA
complement C1q A chain
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:76,668,086...76,671,082
Ensembl chr 2:76,668,217...76,670,977
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C1QB
complement C1q B chain
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:76,650,440...76,655,546
Ensembl chr 2:76,650,586...76,655,549
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C1QC
complement C1q C chain
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:76,660,039...76,664,602
Ensembl chr 2:76,660,035...76,664,577
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CAMK2N1
calcium/calmodulin dependent protein kinase II inhibitor 1
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
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CAPZB
capping actin protein of muscle Z-line subunit beta
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:79,182,668...79,311,529
Ensembl chr 2:79,181,851...79,311,518
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CDA
cytidine deaminase
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,305,328...78,327,229
Ensembl chr 2:78,304,726...78,327,247
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DDOST
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:78,268,540...78,275,789
Ensembl chr 2:78,267,912...78,294,463
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ECE1
endothelin converting enzyme 1
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114
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EIF4G3
eukaryotic translation initiation factor 4 gamma 3
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:77,822,686...78,149,943
Ensembl chr 2:77,822,688...78,149,443
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EMC1
ER membrane protein complex subunit 1
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:79,367,154...79,393,096
Ensembl chr 2:79,367,185...79,392,314
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EPHA8
EPH receptor A8
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:76,703,538...76,739,327
Ensembl chr 2:76,703,524...76,739,259
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FAM43B
family with sequence similarity 43 member B
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
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HP1BP3
heterochromatin protein 1 binding protein 3
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,164,239...78,203,032
Ensembl chr 2:78,164,173...78,201,555
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HSPG2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724
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HTR6
5-hydroxytryptamine receptor 6
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:79,022,790...79,033,975
Ensembl chr 2:79,022,775...79,033,975
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IFFO2
intermediate filament family orphan 2
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:79,636,428...79,685,207
Ensembl chr 2:79,636,302...79,680,696
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KIF17
kinesin family member 17
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,224,838...78,266,612
Ensembl chr 2:78,224,461...78,266,610
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LDLRAD2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:77,368,930...77,377,385
Ensembl chr 2:77,368,634...77,377,126
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LOC403934
cell division cycle 42
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:77,153,276...77,169,947
Ensembl chr 2:77,153,095...77,199,211
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LOC478196
proproteinase E
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:77,223,095...77,228,755
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MRTO4
MRT4 homolog, ribosome maturation factor
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:79,360,897...79,367,038
Ensembl chr 2:79,360,970...79,366,935
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MT-ND5
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:18524835
NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598
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MT-ND6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:18524835 PMID:21457906
NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109
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MTFP1
mitochondrial fission process 1
ISO
mRNA:decreased expression:brain (mouse)
RGD
PMID:19492057
RGD:12880394
NCBI chr26:23,565,438...23,568,919
Ensembl chr26:23,565,567...23,568,510
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MUL1
mitochondrial E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,394,013...78,402,032
Ensembl chr 2:78,394,040...78,425,482
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NBL1
NBL1, DAN family BMP antagonist
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:79,040,206...79,102,792
Ensembl chr 2:79,041,105...79,102,820
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NBL1
NBL1, DAN family BMP antagonist
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:79,068,865...79,102,818
Ensembl chr 2:79,041,105...79,102,820
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OTUD3
OTU deubiquitinase 3
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,843,627...78,875,215
Ensembl chr 2:78,847,177...78,875,121
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PARK7
Parkinsonism associated deglycase
ISO
ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
ClinVar
PMID:16632486
NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303
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PINK1
PTEN induced kinase 1
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET | ClinVar Annotator: match by term: PINK1-Related Parkinsonism | ClinVar Annotator: match by term: Parkinson disease 6 | ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
OMIM ClinVar
PMID:2345993 PMID:9536098 PMID:15087508 PMID:15349860 PMID:15349870 PMID:15349871 PMID:15584030 PMID:15596610 PMID:15824318 PMID:15955953 PMID:15970950 PMID:16009891 PMID:16199547 PMID:16207217 PMID:16207731 PMID:16257123 PMID:16401616 PMID:16482571 PMID:16547921 PMID:16632486 PMID:16702191 PMID:16755580 PMID:16769864 PMID:16805805 PMID:16966503 PMID:16969854 PMID:17030667 PMID:17055324 PMID:17172567 PMID:17415511 PMID:17576681 PMID:17579517 PMID:17960343 PMID:18003639 PMID:18286320 PMID:18330912 PMID:18359116 PMID:18403612 PMID:18486522 PMID:18524835 PMID:18541801 PMID:18546294 PMID:18685134 PMID:18704525 PMID:18785233 PMID:19087301 PMID:19229105 PMID:19242547 PMID:19351622 PMID:19847793 PMID:19880420 PMID:19889566 PMID:19890973 PMID:20126261 PMID:20356854 PMID:20506312 PMID:20547144 PMID:20558144 PMID:20798600 PMID:20981092 PMID:21412950 PMID:21488273 PMID:21534944 PMID:21925922 PMID:21996382 PMID:22118943 PMID:22238344 PMID:22243833 PMID:22445250 PMID:22451330 PMID:22644621 PMID:22764206 PMID:22956510 PMID:23063710 PMID:23303188 PMID:23334666 PMID:23459931 PMID:23880019 PMID:23986421 PMID:24033266 PMID:24167364 PMID:24374372 PMID:24660942 PMID:24677602 PMID:25466404 PMID:25558820 PMID:25627829 PMID:25741868 PMID:26274610 PMID:26467025 PMID:27094865 PMID:27574110 PMID:27884173 PMID:28492532 PMID:28502045 PMID:28849312 PMID:29091718 PMID:29255601 PMID:29655942 PMID:30502028 PMID:31217084 PMID:32249012 PMID:32446772 PMID:32713623 PMID:32861104 PMID:32870915 PMID:33045815 PMID:33601107 PMID:33845304 PMID:34148545 PMID:34159639 PMID:35844286 PMID:36774704 More...
NCBI chr 2:78,276,091...78,293,761
Ensembl chr 2:78,277,077...78,294,123
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PLA2G2C
phospholipase A2 group IIC
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,609,852...78,700,940
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PLA2G2D
phospholipase A2 group IID
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,739,826...78,745,839
Ensembl chr 2:78,739,769...78,745,920
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PLA2G2E
phospholipase A2 group IIE
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,834,820...78,838,058
Ensembl chr 2:78,831,309...78,841,821
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PLA2G2F
phospholipase A2 group IIF
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,714,251...78,724,257
Ensembl chr 2:78,716,228...78,723,984
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PLA2G5
phospholipase A2 group V
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,762,851...78,781,642
Ensembl chr 2:78,762,852...78,781,983
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RAP1GAP
RAP1 GTPase activating protein
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:77,509,592...77,554,620
Ensembl chr 2:77,527,914...77,544,205
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RNF186
ring finger protein 186
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,915,131...78,916,909
Ensembl chr 2:78,915,339...78,916,037
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SH2D5
SH2 domain containing 5
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,210,752...78,223,629
Ensembl chr 2:78,211,112...78,223,634
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SLC66A1
solute carrier family 66 member 1
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:79,318,200...79,334,047
Ensembl chr 2:79,318,345...79,320,885
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TMCO4
transmembrane and coiled-coil domains 4
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,930,982...79,022,247
Ensembl chr 2:78,937,040...79,022,250
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UBR4
ubiquitin protein ligase E3 component n-recognin 4
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:79,403,336...79,536,385
Ensembl chr 2:79,403,351...79,536,208
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UBXN10
UBX domain protein 10
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,670,300...78,680,361
Ensembl chr 2:78,674,817...78,675,671
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USP48
ubiquitin specific peptidase 48
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:77,401,101...77,484,139
Ensembl chr 2:77,379,440...77,484,089
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VWA5B1
von Willebrand factor A domain containing 5B1
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:78,525,507...78,582,674
Ensembl chr 2:78,528,654...78,593,983
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WNT4
Wnt family member 4
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:77,112,045...77,129,702
Ensembl chr 2:77,101,300...77,127,111
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ZBTB40
zinc finger and BTB domain containing 40
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6
ClinVar
PMID:28492532
NCBI chr 2:76,767,650...76,841,353
Ensembl chr 2:76,769,571...76,818,727
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PARK7
Parkinsonism associated deglycase
ISO
ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 7
OMIM ClinVar
PMID:1818649 PMID:9536098 PMID:12446870 PMID:12891675 PMID:12891685 PMID:12953260 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 PMID:15254937 PMID:15365989 PMID:15790532 PMID:15944198 PMID:16997464 PMID:17576681 PMID:18181649 PMID:18436956 PMID:18436965 PMID:18973254 PMID:19405094 PMID:19429112 PMID:20639397 PMID:20806408 PMID:20981092 PMID:21532868 PMID:22173095 PMID:22428580 PMID:22492997 PMID:22960331 PMID:22995991 PMID:23183826 PMID:23241025 PMID:23792957 PMID:23881933 PMID:25741868 PMID:26274610 PMID:26467025 PMID:27085187 PMID:27094865 PMID:27270837 PMID:27294386 PMID:27592010 PMID:27884173 PMID:28492532 PMID:28993701 PMID:29599708 PMID:29887346 PMID:31028127 PMID:31182772 PMID:32144268 PMID:33795807 PMID:35893043 PMID:36609826 More...
NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303
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LRRK2
leucine rich repeat kinase 2
ISO
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 | ClinVar Annotator: match by term: LRRK2-related condition
OMIM ClinVar
PMID:7898705 PMID:9276200 PMID:9536098 PMID:15541308 PMID:15541309 PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 PMID:15811455 PMID:15852371 PMID:15880653 PMID:15925109 PMID:15929036 PMID:15955629 PMID:16001413 PMID:16003110 PMID:16102999 PMID:16115731 PMID:16145815 PMID:16157901 PMID:16157908 PMID:16157909 PMID:16172858 PMID:16199547 PMID:16240353 PMID:16247070 PMID:16251215 PMID:16269443 PMID:16269541 PMID:16272164 PMID:16311269 PMID:16321986 PMID:16333314 PMID:16401756 PMID:16436781 PMID:16436782 PMID:16533964 PMID:16602113 PMID:16616379 PMID:16622854 PMID:16633828 PMID:16728648 PMID:16750377 PMID:16758483 PMID:16788020 PMID:16939701 PMID:16960813 PMID:16966501 PMID:16966502 PMID:16991141 PMID:17019612 PMID:17050822 PMID:17060595 PMID:17078063 PMID:17095157 PMID:17149743 PMID:17179858 PMID:17200152 PMID:17215492 PMID:17222106 PMID:17353388 PMID:17419834 PMID:17442267 PMID:17447891 PMID:17482357 PMID:17523199 PMID:17540608 PMID:17576681 PMID:17584768 PMID:17622782 PMID:17623048 PMID:17659642 PMID:17803033 PMID:17804834 PMID:17914064 PMID:17938369 PMID:18098275 PMID:18197194 PMID:18213618 PMID:18230735 PMID:18265005 PMID:18337586 PMID:18358451 PMID:18412265 PMID:18539534 PMID:18539535 PMID:18591067 PMID:18688798 PMID:18704525 PMID:18716801 PMID:18781329 PMID:18923807 PMID:18973254 PMID:18973807 PMID:18981379 PMID:18986508 PMID:19006185 PMID:19020907 PMID:19283415 PMID:19308469 PMID:19343804 PMID:19357115 PMID:19405094 PMID:19472409 PMID:19489756 PMID:19527940 PMID:19625296 PMID:19667187 PMID:19699188 PMID:19735093 PMID:19741132 PMID:19781641 PMID:19800393 PMID:20008657 PMID:20177695 PMID:20186690 PMID:20197411 PMID:20301387 PMID:20386743 PMID:20443975 PMID:20642453 PMID:20669299 PMID:20721913 PMID:21060682 PMID:21115957 PMID:21234781 PMID:21280089 PMID:21406209 PMID:21494637 PMID:21538529 PMID:21632271 PMID:21641848 PMID:21658387 PMID:21661047 PMID:21753163 PMID:21796139 PMID:21850687 PMID:21885347 PMID:22004453 PMID:22251894 PMID:22342962 PMID:22415848 PMID:22445250 PMID:22539006 PMID:22575234 PMID:22612223 PMID:22988866 PMID:22988870 PMID:23075850 PMID:23124679 PMID:23241358 PMID:23241745 PMID:23472874 PMID:23600457 PMID:23726462 PMID:23764467 PMID:23913756 PMID:23963289 PMID:24033266 PMID:24082139 PMID:24148854 PMID:24243757 PMID:24351927 PMID:24357540 PMID:24360742 PMID:24470158 PMID:24488318 PMID:24496098 PMID:24565865 PMID:24695735 PMID:24816003 PMID:24821816 PMID:24973808 PMID:25027012 PMID:25127457 PMID:25133958 PMID:25174650 PMID:25174890 PMID:25243190 PMID:25316291 PMID:25330418 PMID:25355420 PMID:25360523 PMID:25378673 PMID:25466404 PMID:25741868 PMID:25821816 PMID:25943890 PMID:26062626 PMID:26213354 PMID:26251043 PMID:26363496 PMID:26467025 PMID:26930193 PMID:27013965 PMID:27094865 PMID:27111571 PMID:27294386 PMID:27393345 PMID:27798102 PMID:27832104 PMID:27854218 PMID:28103901 PMID:28166811 PMID:28453723 PMID:28465860 PMID:28492532 PMID:28639421 PMID:29248340 PMID:29332010 PMID:29369408 PMID:29386392 PMID:29402177 PMID:29576439 PMID:29800472 PMID:29859640 PMID:30039155 PMID:30049590 PMID:30363439 PMID:30502028 PMID:30598256 PMID:30796162 PMID:32171587 PMID:32398759 PMID:32580205 PMID:32677286 PMID:32707456 PMID:32794657 PMID:33158606 PMID:33281709 PMID:33640967 PMID:33818904 PMID:35861376 PMID:35950872 More...
NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870
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FMC1
formation of mitochondrial complex V assembly factor 1 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29371327
NCBI chr16:9,413,358...9,418,791
Ensembl chr16:9,413,359...9,418,791
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NDUFV2
NADH:ubiquinone oxidoreductase core subunit V2
ISO
ClinVar Annotator: match by term: Parkinson disease, mitochondrial
ClinVar
PMID:9570948 PMID:25741868 PMID:28492532
NCBI chr 7:75,150,293...75,184,084
Ensembl chr 7:75,150,415...75,184,067
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RAB39B
RAB39B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Parkinson disease, X-linked dominant
ClinVar
PMID:26399558
NCBI chr X:123,245,227...123,251,283
Ensembl chr X:123,247,760...123,251,288
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ABAT
4-aminobutyrate aminotransferase
treatment
ISO
RGD
PMID:22634324
RGD:9588554
NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
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ABCC8
ATP binding cassette subfamily C member 8
ISO
RGD
PMID:15857625
RGD:1598645
NCBI chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981
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ABCC9
ATP binding cassette subfamily C member 9
ISO
RGD
PMID:15857625
RGD:1598645
NCBI chr27:25,199,580...25,352,637
Ensembl chr27:25,200,418...25,388,477
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ADCYAP1
adenylate cyclase activating polypeptide 1
ISO
RGD
PMID:16888218
RGD:2325295
NCBI chr 7:67,682,421...67,691,035
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ALDH1A1
aldehyde dehydrogenase 1 family member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25045800
NCBI chr 1:84,940,411...84,994,789
Ensembl chr 1:84,940,411...84,994,789
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ALDH1A2
aldehyde dehydrogenase 1 family member A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25045800
NCBI chr30:23,074,432...23,170,374
Ensembl chr30:23,074,432...23,340,030
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APAF1
apoptotic peptidase activating factor 1
treatment
ISO
RGD
PMID:11535810
RGD:13503334
NCBI chr15:38,026,893...38,160,842
Ensembl chr15:38,028,132...38,114,987
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AQP4
aquaporin 4
severity
ISO
RGD
PMID:21255222
RGD:5148006
NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
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ATP13A2
ATPase cation transporting 13A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23046578
NCBI chr 2:81,196,355...81,215,736
Ensembl chr 2:81,196,463...81,215,689
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ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15260953
NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
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BAD
BCL2 associated agonist of cell death
ISO
RGD
PMID:23251488
RGD:10053712
NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405
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BDNF
brain derived neurotrophic factor
treatment
ISO
RGD
PMID:16018990
RGD:8657066
NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
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BECN1
beclin 1
treatment
ISO
RGD
PMID:19864570 PMID:25424835
RGD:11558014 RGD:6483312
NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236
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CASP3
caspase 3
treatment
ISO
RGD
PMID:27016191 PMID:28338241 PMID:28881616
RGD:13503337 RGD:13503338 RGD:13503339
NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
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CASP9
caspase 9
treatment
ISO
RGD
PMID:26612350
RGD:13503344
NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
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CCL4
chemokine (C-C motif) ligand 4
ISO
RGD
PMID:17258864
RGD:5683893
NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209
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CNR1
cannabinoid receptor 1
ISO
RGD
PMID:19414037
RGD:2314672
NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983
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COMT
catechol-O-methyltransferase
ISO
RGD
PMID:15698633
RGD:2289785
NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
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CSF1R
colony stimulating factor 1 receptor
ISO
ClinVar Annotator: match by term: Parkinsonian disorder
ClinVar
PMID:25741868
NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
G
CSF2
colony stimulating factor 2
ISO
RGD
PMID:21291297
RGD:5131508
NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:19368990
RGD:4891964
NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:19368990
RGD:4891964
NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
G
CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
mRNA:decreased expression:striatum
RGD
PMID:18374908
RGD:5147675
NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
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DCTN1
dynactin subunit 1
ISO
ClinVar Annotator: match by term: Parkinsonian disorder
ClinVar
PMID:25741868 PMID:28492532 PMID:28518168 PMID:29525180 PMID:32461654
NCBI chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147
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DDC
dopa decarboxylase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16269145
NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616
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DRD2
dopamine receptor D2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
RGD CTD
PMID:9171869 PMID:12476322 PMID:15469457 PMID:22126770
RGD:6907448
NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241
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DRD3
dopamine receptor D3
ISO
RGD
PMID:12535962
RGD:1358605
NCBI chr33:18,369,362...18,414,465
Ensembl chr33:18,372,865...18,412,277
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EGFR
epidermal growth factor receptor
ISO
protein:decreased expression:striatum
RGD
PMID:15857400
RGD:2289955
NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
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EN1
engrailed homeobox 1
ISO
RGD
PMID:17015829
RGD:5687199
NCBI chr19:31,124,325...31,129,538
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EN2
engrailed homeobox 2
ISO
RGD
PMID:17015829
RGD:5687199
NCBI chr16:18,358,100...18,365,827
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ENO2
enolase 2
ISO
RGD
PMID:17532790
RGD:2293747
NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182
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ESR1
estrogen receptor 1
ISO
RGD
PMID:21420980
RGD:8553241
NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
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FGF2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:27228974
RGD:13801017
NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
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FKBP1A
FKBP prolyl isomerase 1A
ISO
mRNA, protein:increased expression:brain
RGD
PMID:17877381
RGD:2302074
NCBI chr24:19,618,581...19,643,685
Ensembl chr24:19,618,558...19,643,046
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GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29886133
NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385
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GBA1
glucosylceramidase beta 1
severity
ISO
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Parkinsonian disorder | ClinVar Annotator: match by term: Parkinsonism
RGD ClinVar
PMID:1864608 PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2569551 PMID:2880291 PMID:7981693 PMID:8160756 PMID:8294487 PMID:8929950 PMID:9375849 PMID:10079102 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11336129 PMID:11903352 PMID:12595585 PMID:12791040 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15967693 PMID:16293621 PMID:16967369 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18160183 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18541817 PMID:18987351 PMID:19286695 PMID:20004703 PMID:20301446 PMID:20816920 PMID:20838799 PMID:20947659 PMID:21106416 PMID:21228398 PMID:21472771 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21831682 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22227325 PMID:22451204 PMID:22623374 PMID:22713811 PMID:22820396 PMID:22975760 PMID:23035075 PMID:23225227 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24522292 PMID:25249066 PMID:25333069 PMID:25535748 PMID:25741868 PMID:25741914 PMID:26000814 PMID:26096741 PMID:26117366 PMID:26296077 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27312774 PMID:27717005 PMID:27865684 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28894968 PMID:28947706 PMID:28969384 PMID:29029963 PMID:29471591 PMID:29487000 PMID:29602947 PMID:29625627 PMID:29934114 PMID:29980418 PMID:30146349 PMID:30285649 PMID:30302829 PMID:30456712 PMID:30548430 PMID:30606667 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31130284 PMID:31216804 PMID:31561936 PMID:32014045 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
RGD:5508426
NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
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GCH1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:12451130 PMID:15684695 PMID:16708545 PMID:23831692 PMID:25592335
RGD:1580026 RGD:329970292 RGD:401700381 RGD:401700385 RGD:628489
NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156
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GDNF
glial cell derived neurotrophic factor
treatment
ISO
protein:decreased expression:brain CTD Direct Evidence: therapeutic
RGD CTD
PMID:9266731 PMID:12213621 PMID:16018990 PMID:21865882 PMID:22186119
RGD:5686884 RGD:6218962 RGD:8657066
NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
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GFRA1
GDNF family receptor alpha 1
ISO
mRNA:altered expression:brain
RGD
PMID:12210101 PMID:21865882
RGD:6218962 RGD:6218972
NCBI chr28:26,707,592...26,910,029
Ensembl chr28:26,709,645...26,909,992
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GFRA2
GDNF family receptor alpha 2
ISO
mRNA:decreased expression:brain
RGD
PMID:12210101
RGD:6218972
NCBI chr25:35,436,790...35,521,661
Ensembl chr25:35,436,317...35,520,365
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GJA1
gap junction protein alpha 1
treatment
ISO
RGD
PMID:23783886
RGD:8662444
NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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GNAL
G protein subunit alpha L
ISO
RGD
PMID:22539851
RGD:13513924
NCBI chr 7:77,378,134...77,521,215
Ensembl chr 7:77,413,986...77,521,042
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GRM8
glutamate metabotropic receptor 8
ISO
RGD
PMID:22546615
RGD:6771180
NCBI chr14:8,982,180...9,719,813
Ensembl chr14:8,983,802...9,719,357
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GRN
granulin precursor
ISO
ClinVar Annotator: match by term: Parkinsonian disorder
ClinVar
NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268
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GSK3A
glycogen synthase kinase 3 alpha
ISO
protein:decreased expression:striatum
RGD
PMID:18805403
RGD:10401814
NCBI chr 1:112,129,116...112,138,714
Ensembl chr 1:112,103,825...112,138,559
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GSR
glutathione-disulfide reductase
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:20951685 PMID:22721943
RGD:5128840
NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
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HMOX1
heme oxygenase 1
treatment
ISO
RGD
PMID:24169105
RGD:10755712
NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
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HOTAIR
HOX transcript antisense RNA
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:32968928
NCBI chr27:1,296,506...1,300,023
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HSPA9
heat shock protein family A (Hsp70) member 9
ISO
protein:decreased expression:striatum
RGD
PMID:21542017
RGD:6784518
NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434
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HTRA2
HtrA serine peptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26558463
NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399
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IL1B
interleukin 1 beta
ISO
protein:increased expression:hypothalamus
RGD
PMID:17520785
RGD:1626658
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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KCNJ11
potassium inwardly rectifying channel subfamily J member 11
ISO
mRNA, protein:increased expression:prefrontal cortex, striatum, hippocampus (rat)
RGD
PMID:15857625
RGD:1598645
NCBI chr21:39,953,461...39,957,615
Ensembl chr21:39,955,551...39,956,723
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KCNJ8
potassium inwardly rectifying channel subfamily J member 8
ISO
mRNA, protein:increased expression:striatum, hippocampus (rat)
RGD
PMID:15857625
RGD:1598645
NCBI chr27:25,368,565...25,375,754
Ensembl chr27:25,368,810...25,375,009
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LRRK2
leucine rich repeat kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20729864 PMID:23046578 PMID:25017139 PMID:26558463
RGD:5508414
NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870
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LYN
LYN proto-oncogene, Src family tyrosine kinase
ISO
RGD
PMID:16529858
RGD:1581410
NCBI chr29:7,367,617...7,448,862
Ensembl chr29:7,332,684...7,448,507
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MANF
mesencephalic astrocyte derived neurotrophic factor
ISO
RGD
PMID:19641128
RGD:2325813
NCBI chr20:38,196,427...38,200,114
Ensembl chr20:38,196,425...38,199,992
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MAPK8
mitogen-activated protein kinase 8
treatment
ISO
RGD
PMID:20581854
RGD:401965387
NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
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MAPT
microtubule associated protein tau
treatment
ISO
ClinVar Annotator: match by term: Parkinsonian disorder
RGD ClinVar
PMID:27228974
RGD:13801017
NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
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MMP3
matrix metallopeptidase 3 (stromelysin 1, progelatinase)
treatment
ISO
RGD
PMID:22498097
RGD:8693688
NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
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MMP9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:15075439
RGD:13204850
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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MT-CO1
mitochondrially encoded cytochrome c oxidase I
ISO
mRNA:decreased expression:thalamus
RGD
PMID:17148469
RGD:2302296
NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
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MTOR
mechanistic target of rapamycin kinase
treatment
ISO
RGD
PMID:20089925
RGD:10040992
NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
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NDUFS3
NADH:ubiquinone oxidoreductase core subunit S3
ISO
RGD
PMID:20403401
RGD:13824972
NCBI chr18:42,069,402...42,075,843
Ensembl chr18:42,069,398...42,076,921
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NFKB2
nuclear factor kappa B subunit 2
ISO
RGD
PMID:18534259
RGD:2302392
NCBI chr28:14,902,212...14,910,437
Ensembl chr28:14,902,706...14,910,395
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NGF
nerve growth factor
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:19694610 PMID:20581854
RGD:401965387
NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
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NGFR
nerve growth factor receptor
treatment
ISO
RGD
PMID:20581854
RGD:401965387
NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
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NOS1
nitric oxide synthase 1
ISO
RGD
PMID:23967645
RGD:7257596
NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
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NR4A2
nuclear receptor subfamily 4 group A member 2
treatment
ISO
RGD
PMID:31408200
RGD:124713575
NCBI chr36:2,546,237...2,554,559
Ensembl chr36:2,547,421...2,552,780
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NTRK1
neurotrophic receptor tyrosine kinase 1
treatment
ISO
RGD
PMID:20581854
RGD:401965387
NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288
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PACRG
parkin coregulated
ISO
ClinVar Annotator: match by term: Juvenile parkinsonism
ClinVar
PMID:25741868
NCBI chr 1:51,202,146...51,717,076
Ensembl chr 1:51,202,164...51,717,070
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PARK7
Parkinsonism associated deglycase
treatment
ISO
protein:decreased expression:brain CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16860563 PMID:18373560 PMID:22041943 PMID:22710069 PMID:23046578 PMID:24969022 PMID:26558463 More...
RGD:13210569 RGD:13462067 RGD:13463452 RGD:13463458 RGD:1601076
NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303
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PARP1
poly(ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17640816
NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
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PDE1B
phosphodiesterase 1B
ISO
RGD
PMID:15305867
RGD:2312524
NCBI chr27:772,741...800,967
Ensembl chr27:772,056...800,375
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PDGFRB
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: Parkinsonian disorder
ClinVar
PMID:25741868
NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
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PDYN
prodynorphin
disease_progression
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:striatum
CTD RGD
PMID:9930741 PMID:26113400
RGD:401851054
NCBI chr24:19,043,955...19,057,413
Ensembl chr24:19,053,870...19,056,364
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PINK1
PTEN induced kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11254447 PMID:15349871 PMID:23046578 PMID:24441527 PMID:24792327 PMID:24969022 PMID:26558463 More...
RGD:13210569
NCBI chr 2:78,276,091...78,293,761
Ensembl chr 2:78,277,077...78,294,123
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PNOC
prepronociceptin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26687234
NCBI chr25:29,223,758...29,246,487
Ensembl chr25:29,224,092...29,245,851
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POLG
DNA polymerase gamma, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17923349
NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
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PPARGC1A
PPARG coactivator 1 alpha
ISO
RGD
PMID:21376232 PMID:22040668 PMID:22246294
RGD:6484262 RGD:6484267 RGD:6484271
NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
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PRKCD
protein kinase C delta
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15681813
NCBI chr20:36,723,491...36,751,982
Ensembl chr20:36,723,809...36,752,191
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Juvenile parkinsonism
ClinVar
PMID:10072423 PMID:10824074 PMID:11179010 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12629236 PMID:12730996 PMID:12764050 PMID:12764051 PMID:12891670 PMID:14519684 PMID:15090472 PMID:15390068 PMID:15606901 PMID:15970950 PMID:16049031 PMID:16227559 PMID:16339143 PMID:16367892 PMID:16476817 PMID:16643317 PMID:16714300 PMID:17766365 PMID:18211709 PMID:18485927 PMID:18486522 PMID:18519021 PMID:18927607 PMID:18973255 PMID:19162522 PMID:19205068 PMID:19636047 PMID:19801972 PMID:20404107 PMID:20457763 PMID:20558392 PMID:20604804 PMID:20798600 PMID:21348451 PMID:21694720 PMID:21996382 PMID:22118943 PMID:22555654 PMID:23275044 PMID:23531835 PMID:23751051 PMID:23770917 PMID:23818421 PMID:24033266 PMID:24082139 PMID:24167364 PMID:24647965 PMID:24831986 PMID:25591737 PMID:25741868 PMID:25815004 PMID:25877876 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26274610 PMID:26467025 PMID:26556299 PMID:26631732 PMID:26683220 PMID:26764160 PMID:26836416 PMID:26855076 PMID:27182553 PMID:27294386 PMID:27534820 PMID:28492532 PMID:29353703 PMID:29530980 PMID:30200940 PMID:30537300 PMID:30609409 PMID:30994895 PMID:31324919 PMID:31409571 PMID:32870915 PMID:32970363 PMID:33045815 PMID:33497488 PMID:33845304 PMID:34426522 PMID:35640906 PMID:35954270 More...
NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
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PRKRA
protein activator of interferon induced protein kinase EIF2AK2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18243799
NCBI chr36:22,061,226...22,080,324
Ensembl chr36:22,061,461...22,080,612
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PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:240179
NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
mRNA, protein:increased expression:neostriatum
RGD
PMID:15306248 PMID:16781689 PMID:21376018
RGD:5508224 RGD:5688225 RGD:5688269
NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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PTRHD1
peptidyl-tRNA hydrolase domain containing 1
ISO
ClinVar Annotator: match by term: Parkinsonian disorder
ClinVar
PMID:27134041 PMID:27753167 PMID:29143421
NCBI chr17:19,137,719...19,141,505
Ensembl chr17:19,137,723...19,141,944
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RANBP2
RAN binding protein 2
severity
ISO
RGD
PMID:22821000
RGD:9835348
NCBI chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
RGD
PMID:18534259
RGD:2302392
NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
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RET
ret proto-oncogene
ISO
mRNA:altered expression:brain
RGD
PMID:12210101
RGD:6218972
NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210
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RGS4
regulator of G protein signaling 4
treatment
ISO
RGD
PMID:25844489
RGD:13524517
NCBI chr38:19,771,454...19,778,917
Ensembl chr38:19,771,441...19,779,190
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RGS9
regulator of G protein signaling 9
treatment
ISO
protein:decreased expression:striatum
RGD
PMID:18160641 PMID:20561938 PMID:21963945
RGD:13524532 RGD:13524862 RGD:13524864
NCBI chr 9:14,809,977...14,905,299
Ensembl chr 9:14,809,864...14,905,197
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SHH
sonic hedgehog signaling molecule
treatment
ISO
RGD
PMID:25030123
RGD:12859032
NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
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SLC11A2
solute carrier family 11 member 2
ISO
RGD
PMID:19011085 PMID:20125122
RGD:5688713 RGD:5688715
NCBI chr27:3,788,785...3,823,852
Ensembl chr27:3,787,855...3,822,672
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SLC17A8
solute carrier family 17 member 8
ISO
protein:increased expression:substantia nigra pars reticulata, neuron, perikaryon
RGD
PMID:17435391
RGD:9999153
NCBI chr15:39,443,790...39,489,988
Ensembl chr15:39,443,518...39,486,595
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SLC18A2
solute carrier family 18 member A2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16269145
NCBI chr28:27,731,709...27,809,341
Ensembl chr28:27,731,004...27,767,993
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SLC30A10
solute carrier family 30 member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26220508
NCBI chr38:14,705,517...14,746,835
Ensembl chr38:14,709,866...14,747,540
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SLC6A3
solute carrier family 6 member 3
ISO
protein:decreased expression:striatum
RGD
PMID:15680936
RGD:1625663
NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742
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SLC6A4
solute carrier family 6 member 4
ISO
RGD
PMID:20447560
RGD:4889474
NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736
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SNCA
synuclein alpha
ISO
mRNA:decreased expression:brain CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15147505 PMID:15499605 PMID:20464527 PMID:22319455 PMID:23046578 PMID:23295396 PMID:26075822 PMID:26558463 PMID:26687234 PMID:27026137 PMID:27324791 PMID:38016618 More...
RGD:6478799 RGD:6478802
NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
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SNCG
synuclein gamma
ISO
RGD
PMID:15147505
RGD:6478802
NCBI chr 4:34,604,867...34,608,851
Ensembl chr 4:34,605,091...34,608,842
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SRC
SRC proto-oncogene, non-receptor tyrosine kinase
ISO
RGD
PMID:16529858
RGD:1581410
NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077
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TBC1D24
TBC1 domain family member 24
ISO
ClinVar Annotator: match by term: Parkinsonian disorder
ClinVar
PMID:3402014 PMID:25401298 PMID:25741868 PMID:27541164 PMID:28492532 PMID:28663785 PMID:29429257 PMID:29933521 PMID:31112829 PMID:33063868 PMID:34020146 More...
NCBI chr 6:38,531,547...38,557,472
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TFAM
transcription factor A, mitochondrial
ISO
mRNA:increased expression:striatum
RGD
PMID:22040668
RGD:6484267
NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058
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TGM6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Parkinsonism
ClinVar
PMID:25741868
NCBI chr24:18,698,016...18,721,975
Ensembl chr24:18,700,099...18,721,930
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TH
tyrosine hydroxylase
treatment susceptibility
ISO
protein:decreased expression:striatum Segawa syndrome,autosomal recessive, OMIM:605407;DNA:missense mutation:exon:p.Q381L CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:7814018 PMID:8817341 PMID:11246459 PMID:20561938 PMID:23831692
RGD:13524532 RGD:1601634 RGD:401700381
NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
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TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:21831964 PMID:28338241
RGD:13503338 RGD:7247422
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TNFRSF1B
TNF receptor superfamily member 1B
treatment
ISO
RGD
PMID:21831964
RGD:7247422
NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
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UCN
urocortin
ISO
RGD
PMID:21362449
RGD:5508188
NCBI chr17:21,278,512...21,280,404
Ensembl chr17:21,278,932...21,279,312
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VDAC1
voltage dependent anion channel 1
ISO
RGD
PMID:24825319
RGD:13504672
NCBI chr11:22,197,814...22,212,924
Ensembl chr11:22,197,949...22,212,924
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VHL
von Hippel-Lindau tumor suppressor
ISO
RGD
PMID:20302395
RGD:2325190
NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
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VIP
vasoactive intestinal peptide
ISO
RGD
PMID:15808913
RGD:5685601
NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700
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UQCRC1
ubiquinol-cytochrome c reductase core protein 1
ISO
ClinVar Annotator: match by term: Parkinsonism with polyneuropathy
OMIM ClinVar
PMID:25741868 PMID:33141179
NCBI chr20:40,507,767...40,515,854
Ensembl chr20:40,506,907...40,520,110
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WARS2
tryptophanyl tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset | ClinVar Annotator: match by term: WARS2-related condition
OMIM ClinVar
PMID:25741868 PMID:28236339 PMID:28492532 PMID:28905505 PMID:29120065 PMID:30831263 PMID:31970218 PMID:32120303 PMID:33619735 PMID:34890876 More...
NCBI chr17:56,229,175...56,322,688
Ensembl chr17:56,229,769...56,322,638
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DCTN1
dynactin subunit 1
ISO
ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome
OMIM ClinVar
PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16240349 PMID:16505168 PMID:17824900 PMID:18094236 PMID:18364389 PMID:18812314 PMID:18852346 PMID:19136952 PMID:19279216 PMID:19506225 PMID:20437543 PMID:20945553 PMID:22777741 PMID:23143281 PMID:23628468 PMID:23881933 PMID:24343258 PMID:24484619 PMID:24604904 PMID:24627108 PMID:24676999 PMID:25025039 PMID:25109764 PMID:25299611 PMID:25382069 PMID:25590979 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:26742954 PMID:27132499 PMID:27573046 PMID:28130640 PMID:28430856 PMID:28492532 PMID:28518168 PMID:28625595 PMID:28717666 PMID:28792508 PMID:29525180 PMID:32028661 PMID:32402491 PMID:32461654 PMID:32717578 PMID:33369814 PMID:33408239 PMID:33973882 PMID:35047667 More...
NCBI chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147
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ATF2
activating transcription factor 2
ISO
RGD
PMID:16496165
RGD:10047401
NCBI chr36:19,032,376...19,103,382
Ensembl chr36:19,010,717...19,103,292
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CREB1
cAMP responsive element binding protein 1
ISO
protein:decreased expression:frontal cortex
RGD
PMID:16496165 PMID:17548164
RGD:10047401 RGD:10047402
NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
protein:decreased expression:frontal cortex
RGD
PMID:17548164
RGD:10047402
NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
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HNMT
histamine N-methyltransferase
ISO
RGD
PMID:11880199
RGD:5509779
NCBI chr19:40,656,266...40,702,498
Ensembl chr19:40,655,161...40,702,218
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MAP2K6
mitogen-activated protein kinase kinase 6
ISO
RGD
PMID:12392790
RGD:7495833
NCBI chr 9:15,840,714...15,962,400
Ensembl chr 9:15,840,983...15,952,026
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MAPT
microtubule associated protein tau
ISO
ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease
ClinVar OMIM
PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 PMID:10100642 PMID:10214944 PMID:10219785 PMID:10604746 PMID:10627302 PMID:10767321 PMID:10821687 PMID:10932182 PMID:11013246 PMID:11032905 PMID:11115852 PMID:11117542 PMID:11255441 PMID:11402146 PMID:11601501 PMID:11756436 PMID:11891833 PMID:12473404 PMID:15489396 PMID:15831501 PMID:17526496 PMID:18067537 PMID:19458322 PMID:20561037 PMID:22022446 PMID:22723997 PMID:23043292 PMID:25319522 PMID:25592136 PMID:25741868 PMID:26220942 PMID:26269332 PMID:26467025 PMID:26519432 PMID:27439681 PMID:27582388 PMID:27641626 PMID:27802239 PMID:28268100 PMID:28492532 PMID:30090657 PMID:30528841 PMID:32843152 More...
NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
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PSEN1
presenilin 1
ISO
ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease
OMIM ClinVar
PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 PMID:8905716 PMID:8962160 PMID:8986743 PMID:9450754 PMID:9521423 PMID:9804121 PMID:10327206 PMID:11389157 PMID:11524469 PMID:12433263 PMID:12549925 PMID:14769392 PMID:15122701 PMID:18045903 PMID:19111578 PMID:20049724 PMID:20157243 PMID:20301414 PMID:21559374 PMID:22242180 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22956200 PMID:23638752 PMID:24463146 PMID:24559647 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25741868 PMID:26337232 PMID:26467025 PMID:27264813 PMID:27930341 PMID:28269784 PMID:28492532 PMID:30054184 PMID:31235249 PMID:31914229 PMID:32087291 PMID:32917274 PMID:35949106 More...
NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532
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SNCA
synuclein alpha
ISO
protein:increased expression:dentate gyrus
RGD
PMID:12410393
RGD:6480200
NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
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SNCB
synuclein beta
ISO
protein:increased expression:dentate gyrus
RGD
PMID:12410393
RGD:6480200
NCBI chr 4:36,710,236...36,719,455
Ensembl chr 4:36,616,039...36,764,501
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TARDBP
TAR DNA binding protein
ISO
RGD
PMID:18091558
RGD:5687194
NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593
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GRN
granulin precursor
ISO
ClinVar Annotator: match by term: Primary progressive aphasia
ClinVar
PMID:6497355 PMID:12794388 PMID:16862116 PMID:16950801 PMID:17202431 PMID:17210807 PMID:17439980 PMID:17522386 PMID:17698705 PMID:18183624 PMID:18245784 PMID:18392865 PMID:18551524 PMID:20087814 PMID:20142524 PMID:20522652 PMID:20947212 PMID:21454553 PMID:21482928 PMID:21891869 PMID:22127750 PMID:22608501 PMID:25741868 PMID:26467025 PMID:26791154 PMID:28492532 PMID:32507413 PMID:33203472 More...
NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268
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PRNP
prion protein
ISO
ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to
ClinVar
PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 PMID:2378641 PMID:2783132 PMID:7908444 PMID:8137139 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10437852 PMID:10581230 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11840201 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16391566 PMID:16565881 PMID:16969862 PMID:18955686 PMID:19923577 PMID:25741868 PMID:28492532 More...
NCBI chr24:16,845,224...16,862,319
Ensembl chr24:16,846,207...16,859,815
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TBK1
TANK binding kinase 1
ISO
ClinVar Annotator: match by term: Primary progressive non fluent aphasia
ClinVar
NCBI chr10:7,169,664...7,208,890
Ensembl chr10:7,168,007...7,208,899
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EIF2AK3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21685912
NCBI chr17:37,886,397...37,950,671
Ensembl chr17:37,886,601...37,949,812
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MAP2K6
mitogen-activated protein kinase kinase 6
ISO
RGD
PMID:12392790
RGD:7495833
NCBI chr 9:15,840,714...15,962,400
Ensembl chr 9:15,840,983...15,952,026
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MAPT
microtubule associated protein tau
onset
ISO
ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1
RGD OMIM ClinVar
PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 PMID:10100642 PMID:10214944 PMID:10219785 PMID:10627302 PMID:10767321 PMID:10821687 PMID:10932182 PMID:11013246 PMID:11115852 PMID:11255441 PMID:11402146 PMID:11756436 PMID:12473404 PMID:14595660 PMID:15489396 PMID:15831501 PMID:16157753 PMID:16839689 PMID:17526496 PMID:19458322 PMID:20561037 PMID:22022446 PMID:22723997 PMID:25319522 PMID:25592136 PMID:25741868 PMID:26220942 PMID:26269332 PMID:26467025 PMID:26519432 PMID:27439681 PMID:28268100 PMID:28492532 PMID:30528841 PMID:32843152 More...
RGD:8158099
NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
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MOBP
myelin associated oligodendrocyte basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21685912
NCBI chr23:9,121,277...9,176,128
Ensembl chr23:9,121,319...9,161,972
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OGG1
8-oxoguanine DNA glycosylase
ISO
protein:increased expression:pontine nucleus, neuron
RGD
PMID:15841414
RGD:8657142
NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
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SOD1
superoxide dismutase 1
ISO
protein:increased activity:brain (human)
RGD
PMID:11879807
RGD:8655859
NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
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SRSF2
serine and arginine rich splicing factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25402454
NCBI chr 9:4,028,414...4,032,371
Ensembl chr 9:4,028,482...4,030,793
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STX6
syntaxin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21685912
NCBI chr 7:14,452,663...14,506,120
Ensembl chr 7:14,458,404...14,556,917
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TARDBP
TAR DNA binding protein
ISO
RGD
PMID:20512649
RGD:5687185
NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593
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TRA2B
transformer 2 beta homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25402454
NCBI chr34:18,637,725...18,656,869
Ensembl chr34:18,638,325...18,657,862
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MAPT
microtubule associated protein tau
ISO
ClinVar Annotator: match by term: Atypical PSP | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1, atypical
ClinVar OMIM
PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 PMID:10100642 PMID:10214944 PMID:10219785 PMID:10627302 PMID:10767321 PMID:10821687 PMID:10932182 PMID:11013246 PMID:11115852 PMID:11255441 PMID:11402146 PMID:11756436 PMID:12473404 PMID:15489396 PMID:15831501 PMID:17526496 PMID:19458322 PMID:20561037 PMID:22022446 PMID:22723997 PMID:25319522 PMID:25592136 PMID:25741868 PMID:26220942 PMID:26269332 PMID:26467025 PMID:26519432 PMID:27439681 PMID:28268100 PMID:28492532 PMID:30528841 PMID:32843152 More...
NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
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ABCB1
ATP binding cassette subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457621
NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
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ATP13A2
ATPase cation transporting 13A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22285144
NCBI chr 2:81,196,355...81,215,736
Ensembl chr 2:81,196,463...81,215,689
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BCHE
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30410011
NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
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CNR2
cannabinoid receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27317300
NCBI chr 2:75,640,636...75,662,000
Ensembl chr 2:75,658,999...75,660,126
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FMC1
formation of mitochondrial complex V assembly factor 1 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29371327
NCBI chr16:9,413,358...9,418,791
Ensembl chr16:9,413,359...9,418,791
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GDNF
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19909981
NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
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NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25634431
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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PON1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457621
NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15993444
NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
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RGS2
regulator of G protein signaling 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347610
NCBI chr38:6,200,237...6,203,491
Ensembl chr38:6,200,657...6,203,494
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SHH
sonic hedgehog signaling molecule
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11771942
NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
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SLC18A2
solute carrier family 18 member A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34774656
NCBI chr28:27,731,709...27,809,341
Ensembl chr28:27,731,004...27,767,993
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SNCA
synuclein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34332006
NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
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TFAM
transcription factor A, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28595911
NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058
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AVP
arginine vasopressin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6850280
NCBI chr24:18,183,057...18,184,827
Ensembl chr24:18,183,057...18,184,883
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COQ2
coenzyme Q2, polyprenyltransferase
ISO
ClinVar Annotator: match by term: Shy-Drager syndrome
ClinVar
PMID:17420317 PMID:23758206 PMID:24988567 PMID:25548529 PMID:25594503 PMID:25741868 PMID:27493029 PMID:28492532 PMID:30613928 More...
NCBI chr32:7,143,476...7,162,765
Ensembl chr32:7,139,126...7,162,764
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MAPT
microtubule associated protein tau
ISO
ClinVar Annotator: match by term: Shy-Drager syndrome
ClinVar
PMID:25741868
NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
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ATP5F1B
ATP synthase F1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr10:870,405...876,937
Ensembl chr10:870,392...909,161
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HMOX1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
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HSPA5
heat shock protein family A (Hsp70) member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257
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HSPA8
heat shock protein family A (Hsp70) member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797
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HYOU1
hypoxia up-regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr 5:14,795,750...14,808,203
Ensembl chr 5:14,795,750...14,807,262
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NQO1
NAD(P)H quinone dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
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P4HB
prolyl 4-hydroxylase subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr 9:427,827...436,880
Ensembl chr 9:427,830...436,064
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PDIA3
protein disulfide isomerase family A member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr30:10,487,926...10,513,437
Ensembl chr30:10,487,921...10,513,397
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TBP
TATA-box binding protein
susceptibility
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 17
ClinVar OMIM
PMID:25741868
NCBI chr12:72,458,959...72,479,271
Ensembl chr12:72,459,041...72,479,124
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ATXN2
ataxin 2
susceptibility
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 2
ClinVar OMIM
PMID:25741868
NCBI chr26:9,073,667...9,188,429
Ensembl chr26:9,073,809...9,188,414
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VAC14
VAC14 component of PIKFYVE complex
ISO
ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset
OMIM ClinVar
PMID:25741868 PMID:27292112 PMID:28492532
NCBI chr 5:76,635,931...76,737,414
Ensembl chr 5:76,636,355...76,737,353
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IL4I1
interleukin 4 induced 1
ISO
ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatonigral degeneration infantile
ClinVar
PMID:16786527 PMID:25741868 PMID:28492532
NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422
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NUP62
nucleoporin 62
ISO
ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatonigral degeneration infantile
OMIM ClinVar
PMID:16786527 PMID:25741868 PMID:28492532
NCBI chr 1:106,636,282...106,661,250
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MT-ATP6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Striatonigral degeneration, infantile, mitochondrial
ClinVar
PMID:7668837 PMID:8554662 PMID:9270604 PMID:9501263 PMID:9631394 PMID:17663470 PMID:19160410 PMID:20056103 PMID:22789932 PMID:23206802 PMID:24002810 PMID:25741868 PMID:31181185 More...
NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644
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AP1S2
adaptor related protein complex 1 subunit sigma 2
ISO
ClinVar Annotator: match by term: Pettigrew syndrome
OMIM ClinVar
PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 PMID:17617514 PMID:18414213 PMID:18428203 PMID:23756445 PMID:25741868 PMID:33847015 More...
NCBI chr X:12,075,797...12,105,911
Ensembl chr X:12,076,724...12,103,654
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CUL4B
cullin 4B
ISO
ClinVar Annotator: match by term: Pettigrew syndrome
ClinVar
PMID:25741868
NCBI chr X:92,489,981...92,538,199
Ensembl chr X:92,491,114...92,537,672
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TOR1A
torsin family 1 member A
ISO
ClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant | ClinVar Annotator: match by term: Dystonia-1, torsion
OMIM ClinVar
PMID:9288096 PMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271 PMID:17503336 PMID:18477710 PMID:18519876 PMID:19955557 PMID:24033266 PMID:24930953 PMID:24931141 PMID:25741868 PMID:27168150 PMID:27477622 PMID:28492532 PMID:30244176 PMID:31321303 PMID:32243914 PMID:34008892 PMID:34298581 More...
NCBI chr 9:54,017,895...54,027,049
Ensembl chr 9:54,017,952...54,026,680
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HPCA
hippocalcin
ISO
ClinVar Annotator: match by term: Torsion dystonia 2
OMIM ClinVar
PMID:6115727 PMID:14694054 PMID:25799108 PMID:28492532
NCBI chr 2:68,464,631...68,473,661
Ensembl chr 2:68,465,280...68,473,310
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TUBB4A
tubulin beta 4A class IVa
ISO
ClinVar Annotator: match by term: Torsion dystonia 4
OMIM ClinVar
PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 PMID:18851904 PMID:23424103 PMID:23582646 PMID:23595291 PMID:24526230 PMID:24706558 PMID:24785942 PMID:24850488 PMID:25085639 PMID:25326635 PMID:25545912 PMID:25741868 PMID:26643067 PMID:28275661 PMID:28492532 PMID:28592043 PMID:28791129 PMID:28973395 PMID:30079973 PMID:31692161 More...
NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349
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ANK1
ankyrin 1
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226
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AP3M2
adaptor related protein complex 3 subunit mu 2
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:23,500,988...23,518,193
Ensembl chr16:23,454,325...23,518,193
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CHRNA6
cholinergic receptor nicotinic alpha 6 subunit
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:22,990,377...23,009,257
Ensembl chr16:22,990,167...23,009,106
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CHRNB3
cholinergic receptor nicotinic beta 3 subunit
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:23,021,652...23,040,907
Ensembl chr16:23,021,645...23,048,347
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DKK4
dickkopf WNT signaling pathway inhibitor 4
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:23,302,124...23,304,824
Ensembl chr16:23,302,320...23,304,834
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FNTA
farnesyltransferase, CAAX box, subunit alpha
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:22,739,070...22,767,942
Ensembl chr16:22,739,079...22,767,914
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HGSNAT
heparan-alpha-glucosaminide N-acetyltransferase
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:22,640,912...22,683,733
Ensembl chr16:22,642,289...22,683,879
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HOOK3
hook microtubule tethering protein 3
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:22,791,198...22,940,168
Ensembl chr16:22,784,267...22,901,991
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IKBKB
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:23,359,551...23,419,114
Ensembl chr16:23,359,813...23,419,075
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KAT6A
lysine acetyltransferase 6A
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:23,604,629...23,717,047
Ensembl chr16:23,604,200...23,724,252
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PLAT
plasminogen activator, tissue type
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:23,469,590...23,496,013
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POLB
DNA polymerase beta
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:23,306,359...23,335,352
Ensembl chr16:23,306,367...23,335,322
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POMK
protein O-mannose kinase
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:22,699,552...22,722,773
Ensembl chr16:22,701,736...22,719,229
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RNF170
ring finger protein 170
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:22,901,224...22,929,990
Ensembl chr16:22,900,313...22,927,125
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SLC20A2
solute carrier family 20 member 2
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:23,165,347...23,268,115
Ensembl chr16:23,200,798...23,267,775
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SMIM19
small integral membrane protein 19
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:23,152,852...23,165,554
Ensembl chr16:23,153,968...23,165,771
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THAP1
THAP domain containing 1
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:19182804 PMID:19345147 PMID:19345148 PMID:19763152 PMID:19908320 PMID:20083799 PMID:20211909 PMID:20307669 PMID:20669277 PMID:20687191 PMID:20687193 PMID:20865765 PMID:20925076 PMID:21495072 PMID:21520283 PMID:21752024 PMID:21782490 PMID:21793105 PMID:21839475 PMID:21847143 PMID:22377579 PMID:22406018 PMID:22844099 PMID:22903657 PMID:23036512 PMID:23180184 PMID:24500857 PMID:24757586 PMID:24936516 PMID:24976531 PMID:25088175 PMID:25741868 PMID:26087139 PMID:26467025 PMID:26486352 PMID:26506956 PMID:26610312 PMID:26944167 PMID:27123488 PMID:27913194 PMID:28492532 PMID:28697333 PMID:29520331 PMID:31153764 PMID:31817799 PMID:33175450 PMID:33369735 More...
NCBI chr16:22,940,257...22,951,453
Ensembl chr16:22,940,216...22,948,582
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VDAC3
voltage dependent anion channel 3
ISO
ClinVar Annotator: match by term: Torsion dystonia 6
ClinVar
PMID:28492532
NCBI chr16:23,276,763...23,289,752
Ensembl chr16:23,276,767...23,289,752
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CLIC2
chloride intracellular channel 2
ISO
ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome
ClinVar
PMID:25434005
NCBI chr X:123,268,867...123,291,467
Ensembl chr X:123,268,867...123,291,467
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RAB39B
RAB39B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Basal ganglia disorder with mental retardation | ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome
OMIM ClinVar
PMID:1674730 PMID:4025396 PMID:25434005 PMID:25741868 PMID:26399558 PMID:26467025 More...
NCBI chr X:123,245,227...123,251,283
Ensembl chr X:123,247,760...123,251,288
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A2M
alpha-2-macroglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23519153
NCBI chr27:36,654,328...36,695,775
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ACTN2
actinin alpha 2
ISO
ClinVar Annotator: match by term: Wilson disease
ClinVar
PMID:24082139 PMID:25326637 PMID:25741868 PMID:28492532
NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273
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AHCY
adenosylhomocysteinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23519153
NCBI chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767
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ALG11
ALG11 alpha-1,2-mannosyltransferase
ISO
ClinVar Annotator: match by term: Wilson disease
ClinVar
PMID:10441329 PMID:16283883 PMID:25741868 PMID:28492532 PMID:30655162 PMID:30676690 More...
NCBI chr22:149,538...162,206
Ensembl chr22:151,641...162,512
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ANKS1B
ankyrin repeat and sterile alpha motif domain containing 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23519153
NCBI chr15:38,128,114...39,186,341
Ensembl chr15:38,129,140...39,186,399
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ANXA5
annexin A5
ISO
protein:increased expression:liver: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21751376
RGD:10053726
NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378
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APOE
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686180
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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ASMT
acetylserotonin O-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23519153
NCBI chr X:1,012,952...1,025,684
Ensembl chr X:1,012,961...1,025,263
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ATP7A
ATPase copper transporting alpha
ISO
mRNA:increased expression:hippocampus (rat)
RGD
PMID:27331785
RGD:11340212
NCBI chr X:60,203,336...60,356,525
Ensembl chr X:60,203,270...60,352,869
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ATP7B
ATPase copper transporting beta
treatment
ISO IAGP
ClinVar Annotator: match by term: Wilson disease ClinVar Annotator: match by term: Hepatolenticular degeneration | ClinVar Annotator: match by term: Wilson disease
OMIM ClinVar OMIA RGD
PMID:626829 PMID:671269 PMID:893844 PMID:1000228 PMID:2333878 PMID:2409472 PMID:2610069 PMID:2677543 PMID:2679931 PMID:7626145 PMID:7726170 PMID:7833924 PMID:8203200 PMID:8298639 PMID:8298640 PMID:8298641 PMID:8526905 PMID:8533760 PMID:8782057 PMID:8931691 PMID:8938442 PMID:8980283 PMID:9199563 PMID:9214248 PMID:9222767 PMID:9311736 PMID:9352458 PMID:9407345 PMID:9452121 PMID:9482578 PMID:9504786 PMID:9536098 PMID:9554743 PMID:9654149 PMID:9671269 PMID:9671279 PMID:9724794 PMID:9801873 PMID:9829905 PMID:9837819 PMID:9887381 PMID:10051024 PMID:10070620 PMID:10194254 PMID:10394193 PMID:10406672 PMID:10441329 PMID:10447265 PMID:10453196 PMID:10502776 PMID:10502777 PMID:10544227 PMID:10557326 PMID:10721669 PMID:10790207 PMID:10942420 PMID:10980554 PMID:10981891 PMID:10994503 PMID:11021476 PMID:11043508 PMID:11060541 PMID:11093740 PMID:11175281 PMID:11180609 PMID:11216666 PMID:11243728 PMID:11405812 PMID:11472373 PMID:11479773 PMID:11690702 PMID:11721763 PMID:11775208 PMID:11857545 PMID:11954751 PMID:12032531 PMID:12202071 PMID:12325021 PMID:12376745 PMID:12515040 PMID:12544487 PMID:12557139 PMID:12756138 PMID:12812649 PMID:12885331 PMID:12955875 PMID:14616767 PMID:14639035 PMID:14748773 PMID:14761325 PMID:14962673 PMID:14966923 PMID:14974157 PMID:14986826 PMID:15024742 PMID:15147237 PMID:15202786 PMID:15205462 PMID:15205742 PMID:15337266 PMID:15511628 PMID:15523622 PMID:15524314 PMID:15557537 PMID:15571607 PMID:15723329 PMID:15811015 PMID:15845031 PMID:15952988 PMID:15967699 PMID:15994426 PMID:16088907 PMID:16133174 PMID:16175588 PMID:16199547 PMID:16207219 PMID:16233999 PMID:16234011 PMID:16283883 PMID:16416207 PMID:16423615 PMID:16472602 PMID:16495228 PMID:16510432 PMID:16545904 PMID:16567646 PMID:16603785 PMID:16644258 PMID:16649058 PMID:16684691 PMID:16696937 PMID:16791614 PMID:16803697 PMID:16868807 PMID:16922724 PMID:16939419 PMID:16998287 PMID:16998622 PMID:17154398 PMID:17160357 PMID:17264425 PMID:17272994 PMID:17300695 PMID:17317524 PMID:17325640 PMID:17410460 PMID:17433323 PMID:17576681 PMID:17587212 PMID:17629589 PMID:17634212 PMID:17680703 PMID:17717039 PMID:17718866 PMID:17823867 PMID:17876883 PMID:17897870 PMID:17919502 PMID:17949296 PMID:18034201 PMID:18156766 PMID:18203200 PMID:18286826 PMID:18311837 PMID:18371106 PMID:18373411 PMID:18403153 PMID:18414213 PMID:18416466 PMID:18424137 PMID:18483695 PMID:18652531 PMID:18692069 PMID:18698682 PMID:18728530 PMID:18760268 PMID:18841562 PMID:18841564 PMID:18855987 PMID:19033537 PMID:19062534 PMID:19118915 PMID:19172127 PMID:19306278 PMID:19371217 PMID:19381668 PMID:19419418 PMID:19484379 PMID:19514071 PMID:19540904 PMID:19596473 PMID:19700008 PMID:19725132 PMID:19783880 PMID:19937698 PMID:20045993 PMID:20082719 PMID:20301685 PMID:20333758 PMID:20421574 PMID:20437613 PMID:20453399 PMID:20465995 PMID:20485189 PMID:20491539 PMID:20517649 PMID:20931554 PMID:20958917 PMID:20967755 PMID:21034864 PMID:21189263 PMID:21219664 PMID:21334398 PMID:21350584 PMID:21398519 PMID:21454443 PMID:21610751 PMID:21645214 PMID:21682854 PMID:21707886 PMID:21794208 PMID:21796144 PMID:21832955 PMID:21901653 PMID:21925265 PMID:21956287 PMID:21982967 PMID:22019423 PMID:22046264 PMID:22075048 PMID:22087377 PMID:22093921 PMID:22106832 PMID:22170460 PMID:22221592 PMID:22240481 PMID:22286624 PMID:22308153 PMID:22484412 PMID:22494076 PMID:22677543 PMID:22687675 PMID:22692182 PMID:22720273 PMID:22720308 PMID:22730635 PMID:22735241 PMID:22745856 PMID:22763723 PMID:22774841 PMID:22820477 PMID:22898812 PMID:22940187 PMID:22955616 PMID:23158531 PMID:23159873 PMID:23219664 PMID:23235335 PMID:23275100 PMID:23333878 PMID:23382538 PMID:23389864 PMID:23430806 PMID:23430908 PMID:23486543 PMID:23518715 PMID:23525077 PMID:23551039 PMID:23556051 PMID:23567103 PMID:23607698 PMID:23774950 PMID:23789284 PMID:23843956 PMID:23885147 PMID:23962630 PMID:23982005 PMID:24003324 PMID:24010089 PMID:24023303 PMID:24033266 PMID:24094725 PMID:24118554 PMID:24119323 PMID:24146181 PMID:24253677 PMID:24475083 PMID:24476933 PMID:24517292 PMID:24555712 PMID:24661374 PMID:24668339 PMID:24706876 PMID:24718822 PMID:24720933 PMID:24794161 PMID:24798599 PMID:24878384 PMID:24897373 PMID:24909901 PMID:24932333 PMID:25014046 PMID:25046119 PMID:25086856 PMID:25089800 PMID:25130000 PMID:25199035 PMID:25327413 PMID:25333069 PMID:25376582 PMID:25390358 PMID:25465132 PMID:25497208 PMID:25516681 PMID:25525159 PMID:25617204 PMID:25637381 PMID:25678388 PMID:25704483 PMID:25704634 PMID:25741868 PMID:25741913 PMID:25825851 PMID:25982861 PMID:25988284 PMID:26004889 PMID:26031236 PMID:26032686 PMID:26206375 PMID:26207595 PMID:26215059 PMID:26253413 PMID:26269689 PMID:26275891 PMID:26286547 PMID:26466587 PMID:26483271 PMID:26580967 PMID:26650869 PMID:26660341 PMID:26752957 PMID:26764160 PMID:26782526 PMID:26799313 PMID:26807378 PMID:26819605 PMID:26829729 PMID:27022412 PMID:27122662 PMID:27398169 PMID:27437191 PMID:27499926 PMID:27528516 PMID:27535533 PMID:27638368 PMID:27706781 PMID:27930511 PMID:27935710 PMID:27941192 PMID:27982432 PMID:27992490 PMID:28119449 PMID:28212618 PMID:28265897 PMID:28271598 PMID:28392828 PMID:28433102 PMID:28443131 PMID:28492532 PMID:28507923 PMID:28515472 PMID:28554332 PMID:28564725 PMID:28602929 PMID:28717664 PMID:28776642 PMID:29063292 PMID:29085216 PMID:29181760 PMID:29321352 PMID:29356957 PMID:29381936 PMID:29418065 PMID:29431110 PMID:29473088 PMID:29482223 PMID:29540233 PMID:29637721 PMID:29649982 PMID:29674751 PMID:29761093 PMID:29790872 PMID:29907136 PMID:29914392 PMID:29915382 PMID:29930488 PMID:29961769 PMID:29979436 PMID:30026388 PMID:30087448 PMID:30097039 PMID:30120852 PMID:30212743 PMID:30230192 PMID:30232804 PMID:30254379 PMID:30275481 PMID:30366773 PMID:30384382 PMID:30426382 PMID:30556376 PMID:30558096 PMID:30609409 PMID:30655162 PMID:30676690 PMID:30702195 PMID:30723317 PMID:30842500 PMID:30884209 PMID:30980273 PMID:31000363 PMID:31010795 PMID:31059521 PMID:31169307 PMID:31172689 PMID:31286540 PMID:31408533 PMID:31449670 PMID:31474638 PMID:31589614 PMID:31598802 PMID:31620489 PMID:31637888 PMID:31664448 PMID:31708252 PMID:31738409 PMID:31743419 PMID:31746411 PMID:31751128 PMID:31783295 PMID:31804371 PMID:31942415 PMID:31980526 PMID:32043565 PMID:32067425 PMID:32118851 PMID:32154060 PMID:32248359 PMID:32270360 PMID:32281751 PMID:32284880 PMID:32291276 PMID:32322813 PMID:32351182 PMID:32532207 PMID:32539308 PMID:32613181 PMID:32618023 PMID:32685348 PMID:32770663 PMID:32778786 PMID:32794656 PMID:32901917 PMID:32911910 PMID:33098801 PMID:33100332 PMID:33159804 PMID:33223529 PMID:33258288 PMID:33260258 PMID:33265091 PMID:33573009 PMID:33640437 PMID:33668890 PMID:33719328 PMID:33763395 PMID:33869661 PMID:33948933 PMID:34002136 PMID:34091542 PMID:34131283 PMID:34240825 PMID:34324271 PMID:34381801 PMID:34395002 PMID:34400371 PMID:34404389 PMID:34426522 PMID:34470610 PMID:34539730 PMID:34620762 PMID:34621001 PMID:34773664 PMID:34786177 PMID:35041927 PMID:35079019 PMID:35193651 PMID:35220961 PMID:35222532 PMID:35245129 PMID:35271763 PMID:35342245 PMID:35357466 PMID:35385937 PMID:35388883 PMID:35446965 PMID:35470480 PMID:35535059 PMID:35538921 PMID:35637795 PMID:35782615 PMID:35864215 PMID:36096368 PMID:36112267 PMID:36253962 PMID:36343861 PMID:36573661 PMID:36632541 PMID:36777461 PMID:37046505 More...
RGD:1554300 RGD:25671604
NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266
G
BHMT
betaine--homocysteine S-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23519153
NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046
G
CAMK2A
calcium/calmodulin dependent protein kinase II alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23519153
NCBI chr 4:58,800,818...58,865,830
Ensembl chr 4:58,800,813...58,865,830
G
CCDC70
coiled-coil domain containing 70
ISO
ClinVar Annotator: match by term: Wilson disease
ClinVar
PMID:28492532
NCBI chr22:258,746...263,908
Ensembl chr22:258,880...259,563
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COMMD1
copper metabolism domain containing 1
IAGP
Copper toxicosis, COMMD1-related
OMIA
PMID:1380748 PMID:3343179 PMID:6639527 PMID:6710813 PMID:6869968 PMID:6939891 PMID:7065120 PMID:7114265 PMID:7212417 PMID:8432554 PMID:8989491 PMID:9587195 PMID:9949209 PMID:10384054 PMID:10442980 PMID:10585777 PMID:10772489 PMID:10803990 PMID:10818210 PMID:10901220 PMID:11234968 PMID:11393371 PMID:11809725 PMID:12450209 PMID:12547404 PMID:12648098 PMID:12816967 PMID:12925897 PMID:14568250 PMID:15028882 PMID:15205742 PMID:15566097 PMID:16293123 PMID:16649058 PMID:16868807 PMID:17099181 PMID:17355395 PMID:17572118 PMID:18305350 PMID:22029820 PMID:22879914 PMID:24758744 PMID:31179308 PMID:31504675 PMID:31557851 PMID:32053895 PMID:33129558 PMID:33668783 PMID:37038639 PMID:37594835 PMID:37741465 More...
NCBI chr10:61,886,281...62,059,610
Ensembl chr10:61,886,281...62,059,591
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CP
ceruloplasmin
treatment
ISO
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:7849148 PMID:15511628 PMID:18556333 PMID:22243965 PMID:23519153
RGD:14401715 RGD:1554300
NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25002079
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
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CYP27B1
cytochrome P450 family 27 subfamily B member 1
ISO
RGD
PMID:3348368
RGD:2307322
NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911
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FAM124A
family with sequence similarity 124 member A
ISO
ClinVar Annotator: match by term: Wilson disease
ClinVar
PMID:28492532
NCBI chr22:786,588...809,284
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HAMP
hepcidin antimicrobial peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23519153
NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619
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HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:17303181
RGD:2292672
NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
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IL10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25002079
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25002079
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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INTS6
integrator complex subunit 6
ISO
ClinVar Annotator: match by term: Wilson disease
ClinVar
PMID:28492532
NCBI chr22:549,221...636,810
Ensembl chr22:549,179...636,523
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LOX
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819
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LOXL2
lysyl oxidase like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969
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NDUFB7
NADH:ubiquinone oxidoreductase subunit B7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23519153
NCBI chr20:48,090,740...48,094,823
Ensembl chr20:48,090,775...48,094,819
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PPP3CA
protein phosphatase 3 catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23519153
NCBI chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688
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PPP3CB
protein phosphatase 3 catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23519153
NCBI chr 4:23,976,023...24,028,139
Ensembl chr 4:23,977,317...24,028,153
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PRNP
prion protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16831968
NCBI chr24:16,845,224...16,862,319
Ensembl chr24:16,846,207...16,859,815
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RNASEH2B
ribonuclease H2 subunit B
ISO
ClinVar Annotator: match by term: Wilson disease
ClinVar
PMID:28492532
NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223
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SDHAF2
succinate dehydrogenase complex assembly factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23519153
NCBI chr18:54,970,987...54,986,676
Ensembl chr18:54,971,658...54,987,394
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SERPINE3
serpin family E member 3
ISO
ClinVar Annotator: match by term: Wilson disease
ClinVar
PMID:28492532
NCBI chr22:637,600...666,028
Ensembl chr22:636,466...663,695
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SMPD1
sphingomyelin phosphodiesterase 1
severity
ISO
RGD
PMID:17259995
RGD:1601345
NCBI chr21:29,714,418...29,719,035
Ensembl chr21:29,714,557...29,719,033
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SNCA
synuclein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23519153
NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
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TIMP1
TIMP metallopeptidase inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26241054
NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25002079
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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WDFY2
WD repeat and FYVE domain containing 2
ISO
ClinVar Annotator: match by term: Wilson disease
ClinVar
PMID:28492532
NCBI chr22:304,250...467,909
Ensembl chr22:304,884...428,223
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DCAF17
DDB1 and CUL4 associated factor 17
ISO
ClinVar Annotator: match by term: Woodhouse-Sakati syndrome
OMIM ClinVar
PMID:6876115 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 PMID:18049083 PMID:18175354 PMID:18414213 PMID:19026396 PMID:20507343 PMID:21044051 PMID:21964978 PMID:24015686 PMID:24088041 PMID:25326637 PMID:25741868 PMID:25741913 PMID:25741916 PMID:26612766 PMID:26633545 PMID:26664771 PMID:27489925 PMID:28492532 PMID:29178422 PMID:29546359 PMID:31323129 PMID:31347785 PMID:35876063 More...
NCBI chr36:15,906,013...15,961,318
Ensembl chr36:15,905,085...15,938,910
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METTL8
methyltransferase 8, tRNA N3-cytidine
ISO
ClinVar Annotator: match by term: Woodhouse-Sakati syndrome
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 PMID:19026396 PMID:20507343 PMID:25741868 PMID:26612766 PMID:28492532 PMID:31323129 More...
NCBI chr36:15,816,518...15,906,019
Ensembl chr36:15,819,138...15,905,064
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ATP6AP2
ATPase H+ transporting accessory protein 2
ISO
ClinVar Annotator: match by term: Parkinsonism with spasticity, X-linked | ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome
OMIM ClinVar
PMID:20629132 PMID:23595882 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr X:35,050,588...35,073,633
Ensembl chr X:35,050,606...35,073,067
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ABCB7
ATP binding cassette subfamily B member 7
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:58,305,804...58,470,827
Ensembl chr X:58,306,776...58,471,417
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AMER1
APC membrane recruitment protein 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992 PMID:28492532
NCBI chr X:49,426,228...49,449,448
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ATP2B3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia
OMIM ClinVar
PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:25741913 PMID:26633542 PMID:27435318 PMID:27632770 PMID:27653636 PMID:28492532 More...
NCBI chr X:121,355,217...121,405,245
Ensembl chr X:121,361,239...121,403,609
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ATP7A
ATPase copper transporting alpha
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:60,203,336...60,356,525
Ensembl chr X:60,203,270...60,352,869
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NHSL2
NHS like 2
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:56,078,560...56,203,105
Ensembl chr X:55,954,435...56,197,319
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PHKA1
phosphorylase kinase regulatory subunit alpha 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992 PMID:28492532
NCBI chr X:56,579,538...56,758,293
Ensembl chr X:56,581,435...56,757,905
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RTL9
retrotransposon Gag like 9
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:83,639,071...83,650,359
Ensembl chr X:83,643,872...83,650,356
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