RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | basal ganglia disease |
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Accession: | DOID:679
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browse the term
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Definition: | Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA. |
Synonyms: | exact_synonym: | Basal Ganglia Disorder; Basal Ganglia Disorders; Extrapyramidal Disorder; Extrapyramidal Disorders; Lenticulostriate Disorder; Lenticulostriate Disorders; basal ganglia diseases |
| primary_id: | MESH:D001480; RDO:0001075 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16000684 |
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NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Drd2 |
dopamine receptor D2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11198054 PMID:12211096 PMID:18480698 PMID:19225277 PMID:19506579 |
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NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
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Drd3 |
dopamine receptor D3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19506579 |
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NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
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Ftl1 |
ferritin light chain 1 |
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ISO |
DNA:insertion:exon:460_461insA(human) |
RGD |
PMID:11438811 |
RGD:5509839 |
NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725
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Htr2a |
5-hydroxytryptamine receptor 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18480698 |
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NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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Micu1 |
mitochondrial calcium uptake 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24336167 |
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NCBI chr20:27,668,681...27,816,322
Ensembl chr20:27,668,747...27,814,964
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Pde8b |
phosphodiesterase 8B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20085714 |
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NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
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NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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Prl |
prolactin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7214106 |
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NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Slc19a3 |
solute carrier family 19 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19387023 |
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NCBI chr 9:84,275,722...84,299,368
Ensembl chr 9:84,277,024...84,299,337
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Slc20a2 |
solute carrier family 20 member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
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NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
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Xpr1 |
xenotropic and polytropic retrovirus receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
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NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946
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Adar |
adenosine deaminase, RNA-specific |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome DNA:mutations:exons: |
CTD ClinVar RGD |
PMID:9889202 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26629815 PMID:28139822 PMID:28395385 PMID:28492532 PMID:28561207 PMID:29221912 PMID:29603717 PMID:31772029 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 PMID:23001123 More...
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RGD:11069491 |
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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Atrip |
ATR interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME |
ClinVar |
PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 PMID:25604658 PMID:25741868 PMID:26467025 PMID:26938784 PMID:28492532 More...
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NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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Ifih1 |
interferon induced with helicase C domain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24686847 |
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NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Kat5 |
lysine acetyltransferase 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
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NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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Rnaseh2a |
ribonuclease H2, subunit A |
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ISS ISO |
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846 ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
MouseDO ClinVar |
PMID:17846997 PMID:20131292 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:25274781 PMID:25604658 PMID:25741868 PMID:27943079 PMID:28492532 PMID:31130681 More...
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NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
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Rnaseh2b |
ribonuclease H2, subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
CTD ClinVar |
PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 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:31130284 PMID:31367981 PMID:31529068 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:33258288 More...
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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Rnaseh2c |
ribonuclease H2, subunit C |
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ISS ISO |
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846 ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
MouseDO ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 |
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NCBI chr 1:202,894,504...202,895,675
Ensembl chr 1:202,894,643...202,897,516
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Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:23364794 PMID:24033266 PMID:24183309 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28492532 PMID:30275001 More...
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NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Tldc2 |
TBC/LysM-associated domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
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Trex1 |
three prime repair exonuclease 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME |
CTD ClinVar |
PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 PMID:25604658 PMID:25741868 PMID:26467025 PMID:26938784 PMID:28492532 More...
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NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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Usp18 |
ubiquitin specific peptidase 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
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Amigo3 |
adhesion molecule with Ig like domain 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555
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Amt |
aminomethyltransferase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
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Apeh |
acylaminoacyl-peptide hydrolase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,773,791...108,782,903
Ensembl chr 8:108,773,794...108,782,933
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Arih2 |
ariadne RBR E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852
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Arih2os |
ARIH2 opposite strand lncRNA |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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Atrip |
ATR interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23918923 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 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:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453956 PMID:30219631 PMID:31130681 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32860008 PMID:33504652 PMID:34426522 PMID:35307828 More...
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NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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Bsn |
bassoon (presynaptic cytomatrix protein) |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819
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Camkv |
CaM kinase-like vesicle-associated |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169
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Ccdc71 |
coiled-coil domain containing 71 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
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Cdhr4 |
cadherin-related family member 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,682,594...108,690,358
Ensembl chr 8:108,682,613...108,690,367
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Celsr3 |
cadherin, EGF LAG seven-pass G-type receptor 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354
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Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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Dag1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Dalrd3 |
DALR anticodon binding domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568
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Gmppb |
GDP-mannose pyrophosphorylase B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
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Gnai2 |
G protein subunit alpha i2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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Gnat1 |
G protein subunit alpha transducin 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
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Gpx1 |
glutathione peroxidase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Hyal1 |
hyaluronidase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,250,654...108,254,526
Ensembl chr 8:108,250,667...108,260,210
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Hyal3 |
hyaluronidase 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647
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Ifrd2 |
interferon-related developmental regulator 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194
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Iho1 |
interactor of HORMAD1 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
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Impdh2 |
inosine monophosphate dehydrogenase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359
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Inka1 |
inka box actin regulator 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,674,263...108,675,953
Ensembl chr 8:108,674,263...108,675,953
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Ip6k1 |
inositol hexakisphosphate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,693,068...108,737,278
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Ip6k2 |
inositol hexakisphosphate kinase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166
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Klhdc8b |
kelch domain containing 8B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
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Lamb2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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LOC498675 |
hypothetical LOC498675 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895
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LOC680045 |
hypothetical protein LOC680045 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
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Lsmem2 |
leucine-rich single-pass membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115
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Mir191 |
microRNA 191 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,264,098...109,264,188
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Mon1a |
MON1 homolog A, secretory trafficking associated |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156
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Mst1 |
macrophage stimulating 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416
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G |
Mst1r |
macrophage stimulating 1 receptor |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,596,100...108,611,389
Ensembl chr 8:108,597,299...108,612,455
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G |
Naa80 |
N(alpha)-acetyltransferase 80, NatH catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563
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G |
Nckipsd |
NCK interacting protein with SH3 domain |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,511,484...109,522,625
Ensembl chr 8:109,511,658...109,522,246
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G |
Ndufaf3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194
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G |
Nicn1 |
nicolin 1, tubulin polyglutamylase complex subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
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P4htm |
prolyl 4-hydroxylase, transmembrane |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473
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G |
Pfkfb4 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634
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G |
Prkar2a |
protein kinase cAMP-dependent type II regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628
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G |
Qars1 |
glutaminyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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G |
Qrich1 |
glutamine-rich 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
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G |
Rbm5 |
RNA binding motif protein 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430
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G |
Rbm6 |
RNA binding motif protein 6 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771
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G |
Rhoa |
ras homolog family member A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
Rnf123 |
ring finger protein 123 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675
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G |
Sema3b |
semaphorin 3B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
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G |
Sema3f |
semaphorin 3F |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,357,629...108,387,083
Ensembl chr 8:108,357,629...108,387,083
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G |
Shisa5 |
shisa family member 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,691,476...109,706,409
Ensembl chr 8:109,691,522...109,706,408
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G |
Slc25a20 |
solute carrier family 25 member 20 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
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G |
Slc26a6 |
solute carrier family 26 member 6 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778
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G |
Slc38a3 |
solute carrier family 38, member 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
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G |
Tcta |
T-cell leukemia translocation altered |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
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G |
Tmem89 |
transmembrane protein 89 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271
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G |
Traip |
TRAF-interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
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G |
Trex1 |
three prime repair exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
OMIM ClinVar |
PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23918923 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 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:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453956 PMID:30219631 PMID:31130681 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32860008 PMID:33504652 PMID:34426522 PMID:35307828 More...
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NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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G |
Uba7 |
ubiquitin-like modifier activating enzyme 7 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:108,665,289...108,674,099
Ensembl chr 8:108,665,292...108,674,099
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G |
Ucn2 |
urocortin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
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G |
Uqcrc1 |
ubiquinol-cytochrome c reductase core protein 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480
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G |
Usp19 |
ubiquitin specific peptidase 19 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,190,727...109,201,761
Ensembl chr 8:109,190,724...109,201,741
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G |
Usp4 |
ubiquitin specific peptidase 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,035,402...109,080,427
Ensembl chr 8:109,036,099...109,080,427
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G |
Wdr6 |
WD repeat domain 6 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
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G |
Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
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G |
Atp7b |
ATPase copper transporting beta |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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G |
Ccdc70 |
coiled-coil domain containing 70 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
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G |
Fam124a |
family with sequence similarity 124 member A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
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G |
Ints6 |
integrator complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
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G |
Rnaseh2b |
ribonuclease H2, subunit B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
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:22149989 PMID:23165795 PMID:24033266 PMID:24183309 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25614871 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:30111349 PMID:30223285 PMID:30609409 PMID:31130284 PMID:31367981 PMID:31529068 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:32488064 PMID:33084218 PMID:33258288 More...
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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G |
Serpine3 |
serpin family E member 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
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G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
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G |
Kat5 |
lysine acetyltransferase 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
|
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NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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G |
Rnaseh2c |
ribonuclease H2, subunit C |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
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:29150899 PMID:29239743 PMID:29389947 PMID:30315573 PMID:31529068 PMID:32404165 PMID:34008892 More...
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NCBI chr 1:202,894,504...202,895,675
Ensembl chr 1:202,894,643...202,897,516
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G |
Best2 |
bestrophin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,141,602...23,148,351
Ensembl chr19:23,141,602...23,148,339
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Calr |
calreticulin |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Dand5 |
DAN domain BMP antagonist family member 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
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G |
Dhps |
deoxyhypusine synthase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
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G |
Dnase2 |
deoxyribonuclease 2, lysosomal |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376
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G |
Farsa |
phenylalanyl-tRNA synthetase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
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G |
Fbxw9 |
F-box and WD repeat domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
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G |
Gadd45gip1 |
GADD45G interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
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G |
Gcdh |
glutaryl-CoA dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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G |
Get3 |
guided entry of tail-anchored proteins factor 3, ATPase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
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G |
Hook2 |
hook microtubule-tethering protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
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G |
Ier2 |
immediate early response 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
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G |
Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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G |
Klf1 |
Kruppel like factor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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Lyl1 |
LYL1, basic helix-loop-helix family member |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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Man2b1 |
mannosidase, alpha, class 2B, member 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
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MAST1 |
microtubule associated serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
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Nacc1 |
nucleus accumbens associated 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
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Nfix |
nuclear factor I X |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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Prdx2 |
peroxiredoxin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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Rad23a |
RAD23 homolog A, nucleotide excision repair protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
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Rnaseh2a |
ribonuclease H2, subunit A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
OMIM ClinVar |
PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:20097664 PMID:20131292 PMID:21183743 PMID:21454563 PMID:23592335 PMID:23831250 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26467025 PMID:26814174 PMID:27943079 PMID:28007337 PMID:28492532 PMID:29239743 PMID:31130681 PMID:31139143 PMID:31529068 More...
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NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
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Rtbdn |
retbindin |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
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Syce2 |
synaptonemal complex central element protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
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Tnpo2 |
transportin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
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Trir |
telomerase RNA component interacting RNase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510
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Trmt1 |
tRNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956
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Wdr83 |
WD repeat domain 83 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563
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Wdr83os |
WD repeat domain 83 opposite strand |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,075,372...23,076,934
Ensembl chr19:23,075,376...23,076,894
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Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:26273690 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28454995 PMID:28492532 PMID:29239743 PMID:30275001 PMID:30487145 PMID:32371413 PMID:33683010 More...
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NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Tldc2 |
TBC/LysM-associated domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
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Adar |
adenosine deaminase, RNA-specific |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 |
OMIM ClinVar |
PMID:9536098 PMID:9889202 PMID:15146470 PMID:15955093 PMID:16817193 PMID:17576681 PMID:19017046 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25243380 PMID:25326637 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26372505 PMID:26629815 PMID:26802932 PMID:27937139 PMID:28139822 PMID:28395385 PMID:28492532 PMID:28561207 PMID:29185800 PMID:29221912 PMID:29603717 PMID:29691679 PMID:29775506 PMID:29915444 PMID:31772029 PMID:32996714 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 More...
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NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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Ifih1 |
interferon induced with helicase C domain 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 |
OMIM ClinVar |
PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:28166811 PMID:28319323 PMID:28492532 PMID:28605144 PMID:29782060 PMID:30219631 PMID:30593198 PMID:30965144 PMID:31898846 PMID:34185153 More...
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NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Lsm11 |
LSM11, U7 small nuclear RNA associated |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 |
OMIM ClinVar |
PMID:33230297 |
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NCBI chr10:30,367,841...30,385,956
Ensembl chr10:30,370,727...30,385,944
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Grcc10 |
gene rich cluster, C10 gene |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 |
ClinVar |
PMID:7667090 PMID:16547514 PMID:33230297 |
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NCBI chr 4:157,551,276...157,552,924
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Arid3c |
AT-rich interaction domain 3C |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,890,042...56,895,888
Ensembl chr 5:56,890,042...56,895,888
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Ccl19 |
C-C motif chemokine ligand 19 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl21 |
C-C motif chemokine ligand 21 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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Ccl27 |
C-C motif chemokine ligand 27 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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Cntfr |
ciliary neurotrophic factor receptor |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,823,448...56,861,075
Ensembl chr 5:56,823,965...56,841,392
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Dctn3 |
dynactin subunit 3 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
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Dnai1 |
dynein, axonemal, intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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Dnajb5 |
DnaJ heat shock protein family (Hsp40) member B5 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,176,840...57,185,492
Ensembl chr 5:57,176,845...57,185,490
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Enho |
energy homeostasis associated |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
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Fam205a |
family with sequence similarity 205, member A |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,065,739...57,071,880
Ensembl chr 5:57,065,747...57,071,738
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Galt |
galactose-1-phosphate uridylyltransferase |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
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Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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LOC100360821 |
rCG55159-like |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,199,931...57,203,964
Ensembl chr 5:57,200,000...57,204,070
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Phf24 |
PHD finger protein 24 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
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Rpp25l |
ribonuclease P/MRP subunit p25 like |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
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Sigmar1 |
sigma non-opioid intracellular receptor 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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Vcp |
valosin-containing protein |
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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:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17576681 PMID:17763460 PMID:17889967 PMID:18341608 PMID:19208399 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19506019 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:21145000 PMID:21249466 PMID:21320982 PMID:21387114 PMID:21816654 PMID:21822278 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:24123792 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:25878907 PMID:26105173 PMID:26467025 PMID:26549226 PMID:26555887 PMID:26627873 PMID:26809617 PMID:27165006 PMID:27209344 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28166811 PMID:28360103 PMID:28430856 PMID:28492532 PMID:28692196 PMID:28709720 PMID:29127544 PMID:29754758 PMID:29899994 PMID:30103325 PMID:30279455 PMID:30955949 PMID:31848255 PMID:31914217 More...
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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Ubqln2 |
ubiquilin 2 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 |
OMIM ClinVar |
PMID:19377476 PMID:21857683 PMID:22560112 PMID:23138764 PMID:23312802 PMID:24771548 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 PMID:26467025 PMID:28492532 More...
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NCBI chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505
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Tuba4a |
tubulin, alpha 4A |
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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 |
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NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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Fus |
Fus RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 DNA:mutations:cds: |
OMIM ClinVar RGD |
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:20232451 PMID:20385912 PMID:20544928 PMID:20577002 PMID:20579074 PMID:20598774 PMID:20606625 PMID:20621307 PMID:20660363 PMID:20668259 PMID:20668261 PMID:20699327 PMID:21158017 PMID:21261515 PMID:21280085 PMID:21487023 PMID:21604077 PMID:21881207 PMID:21907581 PMID:21943958 PMID:21949354 PMID:22055719 PMID:22292843 PMID:22340366 PMID:22645277 PMID:22722621 PMID:22863194 PMID:22980027 PMID:23046859 PMID:23056579 PMID:23085990 PMID:23217123 PMID:23257289 PMID:23577159 PMID:23731953 PMID:23834483 PMID:23881933 PMID:24033266 PMID:24080306 PMID:24204307 PMID:24262168 PMID:24280224 PMID:24439481 PMID:24899262 PMID:24908169 PMID:25173930 PMID:25274782 PMID:25289647 PMID:25324524 PMID:25382069 PMID:25457557 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:28166811 PMID:28273913 PMID:28429524 PMID:28430856 PMID:28492532 PMID:28642336 PMID:29525178 PMID:29547565 PMID:30279455 PMID:30349096 PMID:30879340 PMID:32638105 PMID:19251628 More...
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RGD:9685712 |
NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
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G |
Vcp |
valosin-containing protein |
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ISO |
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 |
ClinVar |
PMID:30103325 |
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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Park7 |
Parkinsonism associated deglycase |
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ISO |
ClinVar Annotator: match by term: Guam disease |
ClinVar |
PMID:25741868 |
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NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
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G |
Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
susceptibility no_association |
ISO |
DNA:mutation:cds: p.T1482I (human) ClinVar Annotator: match by term: Guam disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:25741868 PMID:16051700 PMID:19405049 |
RGD:5685005, RGD:5685008 |
NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
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Gba |
glucosylceramidase beta |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease |
ClinVar |
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 PMID:2309702 PMID:2569551 PMID:3353383 PMID:7789963 PMID:8160756 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:9554746 PMID:9556036 PMID:10796875 PMID:12482401 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:16293621 PMID:17395504 PMID:17427031 PMID:17875915 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21228398 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700325 PMID:21742527 PMID:21745757 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23277556 PMID:23588557 PMID:23642305 PMID:23676350 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24195576 PMID:24434810 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25456120 PMID:25653295 PMID:25741868 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27094865 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27735925 PMID:27872820 PMID:28492532 PMID:28779532 PMID:28834018 PMID:28923368 PMID:28966932 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29487000 PMID:29527153 PMID:29625627 PMID:29842932 PMID:30146349 PMID:30216542 PMID:30302829 PMID:30364808 PMID:30487145 PMID:30528841 PMID:30606667 PMID:30609409 PMID:31188768 PMID:31996268 PMID:32042592 PMID:32658388 PMID:32714263 PMID:33223529 PMID:33281709 PMID:33473340 More...
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NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
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Pdgfb |
platelet derived growth factor subunit B |
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ISS |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdgfrb |
platelet derived growth factor receptor beta |
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ISS |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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Slc20a2 |
solute carrier family 20 member 2 |
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ISS |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
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Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
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ISO |
ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia |
ClinVar |
PMID:12205655 PMID:14520668 PMID:14595656 PMID:16337195 |
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NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Slc19a3 |
solute carrier family 19 member 3 |
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ISO |
ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease | ClinVar Annotator: match by term: thiamine-responsive encephalopathy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:24667528 PMID:24957181 PMID:25741868 PMID:26443248 PMID:26467025 PMID:26657515 PMID:26863430 PMID:26938784 PMID:27290639 PMID:27749535 PMID:27896110 PMID:28492532 PMID:28832562 PMID:28856750 PMID:29101630 PMID:29236641 PMID:29453417 PMID:32034746 More...
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NCBI chr 9:84,275,722...84,299,368
Ensembl chr 9:84,277,024...84,299,337
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Chmp2b |
charged multivesicular body protein 2B |
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ISO |
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:17576681 PMID:17956895 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 More...
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NCBI chr11:3,338,007...3,364,357
Ensembl chr11:3,337,494...3,385,181
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Pou1f1 |
POU class 1 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
ClinVar |
PMID:28492532 |
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NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
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Acta2 |
actin alpha 2, smooth muscle |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22879914 |
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Casp3 |
caspase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22879914 |
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NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Commd1 |
copper metabolism domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22879914 |
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NCBI chr14:96,880,463...96,984,494
Ensembl chr14:96,880,463...96,984,501
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Hgf |
hepatocyte growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22879914 |
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NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Krt19 |
keratin 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22879914 |
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NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799
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Krt7 |
keratin 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22879914 |
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NCBI chr 7:132,528,863...132,545,052
Ensembl chr 7:132,528,895...132,545,052
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Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22879914 |
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mki67 |
marker of proliferation Ki-67 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22879914 |
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NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Smad2 |
SMAD family member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22879914 |
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NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22879914 |
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NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22879914 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tor1a |
torsin family 1, member A |
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TAS |
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RGD |
PMID:12671990 |
RGD:634735 |
NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691
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Mecr |
mitochondrial trans-2-enoyl-CoA reductase |
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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:32313153 PMID:32445240 PMID:33401012 More...
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NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863
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Abca7 |
ATP binding cassette subfamily A member 7 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:25741868 PMID:26101835 PMID:28097223 PMID:28400126 PMID:28789839 PMID:30924900 PMID:31836585 More...
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NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
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Ang |
angiogenin |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:28166811 PMID:28492532 |
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NCBI chr15:24,317,733...24,323,361
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Arsa |
arylsulfatase A |
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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...
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NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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Bace2 |
beta-secretase 2 |
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ISO |
mRNA,protein, activity:increased expression, increased activity:gyrus: |
RGD |
PMID:22074738 |
RGD:13782172 |
NCBI chr11:36,707,473...36,789,550
Ensembl chr11:36,707,458...36,789,546
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Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
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NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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Chmp2b |
charged multivesicular body protein 2B |
no_association |
ISO |
DNA:mutations:cds ClinVar Annotator: match by term: Frontotemporal dementia CTD Direct Evidence: marker/mechanism DNA:mutations: : |
ClinVar CTD RGD |
PMID:16041373 PMID:26467025 PMID:28492532 PMID:16041373 PMID:16979267 PMID:19202337 More...
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RGD:5688398, RGD:5688721, RGD:5688716 |
NCBI chr11:3,338,007...3,364,357
Ensembl chr11:3,337,494...3,385,181
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Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:28492532 |
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NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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Chrnb4 |
cholinergic receptor nicotinic beta 4 subunit |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
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NCBI chr 8:55,418,379...55,436,967
Ensembl chr 8:55,418,313...55,437,027
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Crhr1 |
corticotropin releasing hormone receptor 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:18628315 PMID:21094706 PMID:28492532 |
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NCBI chr10:89,040,203...89,083,481
Ensembl chr10:89,040,203...89,083,481
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Csf1r |
colony stimulating factor 1 receptor |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:25741868 |
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NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Dctn1 |
dynactin subunit 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:28492532 |
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NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
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NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Fus |
Fus RNA binding protein |
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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...
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NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
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Glt8d1 |
glycosyltransferase 8 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
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NCBI chr16:6,192,269...6,207,227
Ensembl chr16:6,192,300...6,207,229
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Grn |
granulin precursor |
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ISO |
DNA:mutations, haploinsufficiency: : ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: GRN-Related Frontotemporal Dementia CTD Direct Evidence: marker/mechanism DNA:deletion:exon: DNA:deletion: :g.102delC(humN) DNA:missense mutation:signal peptide:p.A9D(human) |
ClinVar CTD RGD |
PMID:16862116 PMID:16950801 PMID:18234697 PMID:18723524 PMID:19158106 PMID:19683260 PMID:20045477 PMID:20142524 PMID:21403024 PMID:21454553 PMID:22028881 PMID:22491866 PMID:22608501 PMID:23463024 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29724592 PMID:30279455 PMID:30992141 PMID:16862116 PMID:18855025 PMID:19012866 PMID:16983685 PMID:21933710 More...
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RGD:5509588, RGD:5509612, RGD:5509609, RGD:5509602, RGD:5509589 |
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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Hnrnpa2b1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:23455423 PMID:25741868 |
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NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
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Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:18628315 PMID:21094706 PMID:28492532 |
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NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
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Lrrk2 |
leucine-rich repeat kinase 2 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar RGD |
PMID:17639429 |
RGD:5508418 |
NCBI chr 7:122,826,712...122,987,711
Ensembl chr 7:122,826,696...122,987,703
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Mapt |
microtubule-associated protein tau |
no_association |
ISO |
DNA:missense mutations, splice site mutations:exon, intron:multiple 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 CTD Direct Evidence: marker/mechanism DNA:mutation:splice junction: IVS10+16C>T(human) DNA:haplotype |
ClinVar CTD OMIM RGD |
PMID:1416801 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:9811325 PMID:9824291 PMID:9836646 PMID:9973279 PMID:10076890 PMID:10100642 PMID:10100846 PMID:10202939 PMID:10208578 PMID:10214944 PMID:10218629 PMID:10219785 PMID:10318930 PMID:10329720 PMID:10359094 PMID:10360762 PMID:10374757 PMID:10412802 PMID:10443890 PMID:10446810 PMID:10489057 PMID:10514099 PMID:10553987 PMID:10561502 PMID:10604746 PMID:10624829 PMID:10627302 PMID:10767321 PMID:10775534 PMID:10797541 PMID:10802785 PMID:10820221 PMID:10821687 PMID:10822460 PMID:10865093 PMID:10932182 PMID:11013246 PMID:11032905 PMID:11071507 PMID:11081811 PMID:11102510 PMID:11115852 PMID:11117541 PMID:11117542 PMID:11117553 PMID:11159174 PMID:11255441 PMID:11278002 PMID:11402146 PMID:11456301 PMID:11598310 PMID:11641718 PMID:11708988 PMID:11738505 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:12565146 PMID:12615641 PMID:12722177 PMID:12756133 PMID:12796837 PMID:12847166 PMID:12876142 PMID:12975285 PMID:14517953 PMID:14568818 PMID:14755449 PMID:15178938 PMID:15178940 PMID:15365985 PMID:15372253 PMID:15376481 PMID:15489396 PMID:15831501 PMID:15883319 PMID:15904919 PMID:16219306 PMID:16240366 PMID:16477083 PMID:16495230 PMID:16495328 PMID:16571759 PMID:16818492 PMID:17071927 PMID:17526496 PMID:17576681 PMID:17715352 PMID:17923640 PMID:17950702 PMID:18067537 PMID:18093153 PMID:18284428 PMID:18357425 PMID:18525295 PMID:18587238 PMID:18628315 PMID:18803694 PMID:18854867 PMID:18992292 PMID:19091059 PMID:19263483 PMID:19304664 PMID:19365643 PMID:19458322 PMID:19498037 PMID:19659892 PMID:19766248 PMID:19786698 PMID:19884572 PMID:19914360 PMID:20045477 PMID:20130190 PMID:20377816 PMID:20561037 PMID:20598713 PMID:20634584 PMID:21094706 PMID:21176711 PMID:21339331 PMID:21343707 PMID:21344240 PMID:21492964 PMID:21555888 PMID:21849646 PMID:22022446 PMID:22127750 PMID:22169201 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:23659495 PMID:23680655 PMID:23692670 PMID:23727082 PMID:23881933 PMID:23885714 PMID:23990795 PMID:24018212 PMID:24081456 PMID:24150109 PMID:24218087 PMID:25004446 PMID:25151619 PMID:25319522 PMID:25466404 PMID:25592136 PMID:25604855 PMID:25671699 PMID:25683866 PMID:25741868 PMID:25937274 PMID:25942996 PMID:26028272 PMID:26136155 PMID:26143746 PMID:26200045 PMID:26220942 PMID:26269332 PMID:26295349 PMID:26333800 PMID:26373282 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:27802239 PMID:27975259 PMID:28097206 PMID:28130473 PMID:28166811 PMID:28334843 PMID:28462717 PMID:28492532 PMID:28923025 PMID:29253099 PMID:29525180 PMID:30279455 PMID:31542321 PMID:177121602 PMID:9641683 PMID:16407562 PMID:19766248 PMID:17386961 More...
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RGD:1302531, RGD:10412702, RGD:10412699, RGD:8158108 |
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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Marchf4 |
membrane associated ring-CH-type finger 4 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:29476165 |
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NCBI chr 9:74,078,437...74,196,070
Ensembl chr 9:74,078,434...74,198,199
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G |
Masp2 |
MBL associated serine protease 2 |
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ISO |
ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia |
ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
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G |
Mef2c |
myocyte enhancer factor 2C |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
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NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880
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G |
Mobp |
myelin-associated oligodendrocyte basic protein |
disease_progression |
ISO |
DNA:SNP: :rs1768208(human) |
RGD |
PMID:24994843 |
RGD:27226701 |
NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
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G |
Nefl |
neurofilament light chain |
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ISO |
protein:increased expression:CSF (human) |
RGD |
PMID:29391125 |
RGD:127285384 |
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Optn |
optineurin |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
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NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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Pou1f1 |
POU class 1 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
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Prkn |
parkin RBR E3 ubiquitin protein ligase |
disease_progression |
ISO |
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RGD |
PMID:18817929 |
RGD:10412726 |
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Psen1 |
presenilin 1 |
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ISO |
ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11094121 PMID:11389157 PMID:11895378 PMID:15776278 PMID:17431506 PMID:20332427 PMID:20634584 PMID:22475797 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30279455 PMID:31153663 More...
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NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Rnase4 |
ribonuclease A family member 4 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:28166811 PMID:28492532 |
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NCBI chr15:24,312,765...24,330,116
Ensembl chr15:24,312,464...24,330,117
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Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Sppl2c |
signal peptide peptidase like 2C |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:18628315 PMID:21094706 PMID:28492532 |
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NCBI chr10:89,095,254...89,097,487
Ensembl chr10:89,095,261...89,098,580
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Tardbp |
TAR DNA binding protein |
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ISS ISO |
OMIM:600274 | OMIM:600795 ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia |
MouseDO ClinVar |
PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 PMID:24033266 PMID:26467025 PMID:28492532 More...
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NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
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Tm2d3 |
TM2 domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:119,264,576...119,277,099
Ensembl chr 1:119,264,576...119,277,099
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Tnk1 |
tyrosine kinase, non-receptor, 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:25741868 |
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NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
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Trem2 |
triggering receptor expressed on myeloid cells 2 |
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ISS ISO |
OMIM:600274 | OMIM:600795 ClinVar Annotator: match by term: Frontotemporal dementia |
MouseDO ClinVar |
PMID:23582655 PMID:24119542 PMID:25186855 PMID:25741868 PMID:28492532 PMID:29723869 More...
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NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Vps13c |
vacuolar protein sorting 13 homolog C |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia |
ClinVar |
PMID:25741868 PMID:29770609 PMID:31836585 |
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NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895
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Adam10 |
ADAM metallopeptidase domain 10 |
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ISO |
ClinVar Annotator: match by term: Corticobasal syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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RGD1359108 |
similar to RIKEN cDNA 3110043O21 |
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ISO |
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia |
ClinVar |
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NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
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Ttc3 |
tetratricopeptide repeat domain 3 |
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ISO |
ClinVar Annotator: match by term: Corticobasal syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975
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Adamts2 |
ADAM metallopeptidase with thrombospondin type 1 motif, 2 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
ClinVar |
PMID:26925868 PMID:28492532 |
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NCBI chr10:34,920,996...35,126,465
Ensembl chr10:34,921,049...35,123,821
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Canx |
calnexin |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
ClinVar |
PMID:26925868 PMID:28492532 |
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NCBI chr10:34,623,865...34,656,866
Ensembl chr10:34,625,191...34,656,821
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Cby3 |
chibby family member 3 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
ClinVar |
PMID:26925868 PMID:28492532 |
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NCBI chr10:34,680,926...34,683,176
Ensembl chr10:34,677,770...34,682,784
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Hnrnph1 |
heterogeneous nuclear ribonucleoprotein H1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
ClinVar |
PMID:26925868 PMID:28492532 |
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NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
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Ltc4s |
leukotriene C4 synthase |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
ClinVar |
PMID:26925868 PMID:28492532 |
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NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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Maml1 |
mastermind-like transcriptional coactivator 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
ClinVar |
PMID:26925868 PMID:28492532 |
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NCBI chr10:34,588,639...34,624,298
Ensembl chr10:34,588,646...34,623,338
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Mgat4b |
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
ClinVar |
PMID:26925868 PMID:28492532 |
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NCBI chr10:34,548,918...34,559,229
Ensembl chr10:34,549,433...34,559,229
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RGD1359108 |
similar to RIKEN cDNA 3110043O21 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:26769963 PMID:28492532 |
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NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
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Rufy1 |
RUN and FYVE domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
ClinVar |
PMID:26925868 PMID:28492532 |
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NCBI chr10:34,705,741...34,750,644
Ensembl chr10:34,705,741...34,750,644
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Spata31d1c |
spermatogenesis associated 31 subfamily D, member 1C |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
ClinVar |
PMID:26925868 PMID:28492532 |
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NCBI chr17:160,144...164,208
Ensembl chr17:159,398...164,270
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Sqstm1 |
sequestosome 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
ClinVar |
PMID:9536098 PMID:11992264 PMID:12374763 PMID:14584883 PMID:15125799 PMID:15146436 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 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: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:27158844 PMID:27163810 PMID:27275741 PMID:27545679 PMID:27554286 PMID:27594680 PMID:28003435 PMID:28166811 PMID:28430856 PMID:28492532 PMID:28642336 PMID:28709720 PMID:29457785 PMID:29525180 PMID:29599744 PMID:29895397 PMID:29959261 PMID:30120248 PMID:30154079 PMID:30638816 PMID:30679323 PMID:31434890 PMID:31859009 PMID:31914217 PMID:32385536 More...
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NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673
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Chchd10 |
coiled-coil-helix-coiled-coil-helix domain containing 10 |
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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:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29540477 PMID:29789341 PMID:30014597 PMID:31690696 More...
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NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
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RGD1564162 |
similar to Homo sapiens fetal lung specific expression unknown |
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ISO |
ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,721,738...12,725,864
Ensembl chr20:12,723,160...12,726,059
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Sqstm1 |
sequestosome 1 |
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ISO |
ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 |
OMIM ClinVar |
PMID:11992264 PMID:14584883 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16691492 PMID:16813535 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:26467025 PMID:26627873 PMID:26713335 PMID:27275741 PMID:27594680 PMID:28003435 PMID:28430856 PMID:28492532 PMID:29457785 PMID:29525180 PMID:29599744 PMID:30154079 More...
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NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673
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Kif5a |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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Tbk1 |
TANK-binding kinase 1 |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:24033266 PMID:25700176 PMID:25741868 PMID:25803835 PMID:25943890 PMID:26476236 PMID:26581300 PMID:27156075 PMID:28008748 PMID:28089114 PMID:28166811 PMID:28365590 PMID:28492532 PMID:28822984 PMID:30033073 PMID:30739198 PMID:31000212 PMID:31914217 PMID:31996268 PMID:32447396 More...
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NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
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Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 |
OMIM ClinVar |
PMID:27080313 |
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NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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Cyld |
CYLD lysine 63 deubiquitinase |
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ISO |
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 |
OMIM ClinVar |
PMID:23338750 PMID:32185393 |
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NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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Baiap2 |
BAR/IMD domain containing adaptor protein 2 |
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ISO |
DNA:snps, haplotype:multiple (human) |
RGD |
PMID:15303240 |
RGD:11576298 |
NCBI chr10:105,223,065...105,290,130
Ensembl chr10:105,223,090...105,290,134
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Celsr3 |
cadherin, EGF LAG seven-pass G-type receptor 3 |
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ISO |
ClinVar Annotator: match by term: Tourette syndrome |
ClinVar |
PMID:30257206 |
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NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354
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Drd2 |
dopamine receptor D2 |
treatment |
IEP |
mRNA:increased expression:striatum (rat) |
RGD |
PMID:19467315 PMID:22876458 |
RGD:2311576, RGD:6907444 |
NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
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Drd3 |
dopamine receptor D3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10523822 |
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NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
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Drd4 |
dopamine receptor D4 |
susceptibility no_association |
ISO |
DNA:duplication:exon:g.2689_2737dup (human) |
RGD |
PMID:25258183 PMID:8725747 |
RGD:13209010, RGD:13210516 |
NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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Hcn4 |
hyperpolarization activated cyclic nucleotide-gated potassium channel 4 |
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ISO |
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RGD |
PMID:22683190 |
RGD:9693691 |
NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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Hdc |
histidine decarboxylase |
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ISO |
ClinVar Annotator: match by term: Tourette syndrome |
OMIM ClinVar |
PMID:20445167 PMID:24411733 PMID:25741868 |
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NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
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Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISS |
OMIM:137580 |
MouseDO |
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Slc6a3 |
solute carrier family 6 member 3 |
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ISS |
OMIM:137580 |
MouseDO |
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NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
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Slitrk1 |
SLIT and NTRK-like family, member 1 |
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ISO |
ClinVar Annotator: match by term: Tourette syndrome |
OMIM ClinVar |
PMID:17003809 PMID:17035247 PMID:18413575 PMID:19018236 PMID:20351724 PMID:22942103 PMID:23528612 PMID:23835198 PMID:23990902 PMID:25741868 PMID:27812321 PMID:28492532 More...
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NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
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Sox5 |
SRY-box transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Tourette syndrome |
ClinVar |
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NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
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Tdo2 |
tryptophan 2,3-dioxygenase |
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ISO |
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RGD |
PMID:8873217 |
RGD:1358595 |
NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
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Asb16 |
ankyrin repeat and SOCS box-containing 16 |
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ISO |
ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions |
ClinVar |
PMID:28492532 |
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NCBI chr10:87,225,976...87,233,078
Ensembl chr10:87,225,912...87,233,078
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Atxn7l3 |
ataxin 7-like 3 |
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ISO |
ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions |
ClinVar |
PMID:28492532 |
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NCBI chr10:87,242,843...87,250,186
Ensembl chr10:87,243,587...87,250,620
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G6pc3 |
glucose 6 phosphatase catalytic subunit 3 |
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ISO |
ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions |
ClinVar |
PMID:28492532 |
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NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
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Grn |
granulin precursor |
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ISO |
ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions |
ClinVar OMIM RGD |
PMID:6497355 PMID:9152110 PMID:9259373 PMID:9536098 PMID:9633693 PMID:12476321 PMID:16199547 PMID:16401619 PMID:16495329 PMID:16862115 PMID:16862116 PMID:16950801 PMID:16983677 PMID:16983685 PMID:17071927 PMID:17202431 PMID:17210807 PMID:17228326 PMID:17334266 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: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: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:21800185 PMID:21891869 PMID:22127750 PMID:22312439 PMID:22366795 PMID:22459598 PMID:22491866 PMID:22608501 PMID:22647257 PMID:22781549 PMID:22906081 PMID:22995991 PMID:23117491 PMID:23338682 PMID:23463024 PMID:23596077 PMID:23609919 PMID:23624518 PMID:23684369 PMID:23724906 PMID:23742080 PMID:23759146 PMID:23813535 PMID:23990795 PMID:24022032 PMID:24387985 PMID:24503614 PMID:24703252 PMID:25104557 PMID:25333068 PMID:25525159 PMID:25546130 PMID:25558820 PMID:25741868 PMID:25943890 PMID:26075876 PMID:26159191 PMID:26467025 PMID:26652843 PMID:26674655 PMID:26791154 PMID:26811050 PMID:27082848 PMID:27258413 PMID:27311648 PMID:27341800 PMID:27632209 PMID:27790088 PMID:27884173 PMID:27997711 PMID:28000352 PMID:28264768 PMID:28473694 PMID:28492532 PMID:28543767 PMID:29339765 PMID:29486463 PMID:29525178 PMID:29530724 PMID:29614680 PMID:29724592 PMID:29874572 PMID:30090657 PMID:30279455 PMID:30528841 PMID:30924900 PMID:30954774 PMID:30992141 PMID:31122931 PMID:31262553 PMID:31361008 PMID:31810826 PMID:31855245 PMID:31996268 PMID:32317127 PMID:33351065 PMID:19649643 More...
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RGD:5509604 |
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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Hdac5 |
histone deacetylase 5 |
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ISO |
ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions |
ClinVar |
PMID:28492532 |
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NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
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Hrob |
homologous recombination factor with OB-fold |
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ISO |
ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions |
ClinVar |
PMID:28492532 |
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NCBI chr10:87,206,017...87,222,483
Ensembl chr10:87,206,049...87,222,483
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Lsm12 |
LSM12 homolog |
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ISO |
ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions |
ClinVar |
PMID:28492532 |
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NCBI chr10:87,118,334...87,140,395
Ensembl chr10:87,118,416...87,140,396
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Rundc3a |
RUN domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions |
ClinVar |
PMID:28492532 |
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NCBI chr10:87,352,624...87,361,767
Ensembl chr10:87,352,646...87,361,765
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Slc25a39 |
solute carrier family 25, member 39 |
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ISO |
ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions |
ClinVar |
PMID:28492532 |
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NCBI chr10:87,362,494...87,367,358
Ensembl chr10:87,362,490...87,367,260
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Slc4a1 |
solute carrier family 4 member 1 (Diego blood group) |
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ISO |
ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions |
ClinVar |
PMID:28492532 |
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NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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Tardbp |
TAR DNA binding protein |
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ISS |
OMIM:607485 |
MouseDO |
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NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
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Tmub2 |
transmembrane and ubiquitin-like domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions |
ClinVar |
PMID:28492532 |
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NCBI chr10:87,238,543...87,242,968
Ensembl chr10:87,238,548...87,242,779
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Ubtf |
upstream binding transcription factor |
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ISO |
ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions |
ClinVar |
PMID:28492532 |
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NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969
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Abat |
4-aminobutyrate aminotransferase |
treatment |
IMP ISO |
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RGD |
PMID:152600 PMID:6237280 |
RGD:10047058, RGD:10046047 |
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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Ache |
acetylcholinesterase |
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ISO |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:2953866 |
RGD:5688127 |
NCBI chr12:19,407,359...19,413,713
Ensembl chr12:19,407,360...19,413,651
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Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:19124532 |
RGD:5686822 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Agtr1a |
angiotensin II receptor, type 1a |
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ISO |
protein:decreased expression:putamen: |
RGD |
PMID:8666063 |
RGD:10047397 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12930891 |
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NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Apoa4 |
apolipoprotein A4 |
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ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:21297956 |
RGD:5147768 |
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Atf2 |
activating transcription factor 2 |
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ISO |
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RGD |
PMID:15878807 |
RGD:10047400 |
NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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Atf5 |
activating transcription factor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28861715 |
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NCBI chr 1:95,295,602...95,299,755
Ensembl chr 1:95,295,610...95,299,707
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Atrx |
ATRX, chromatin remodeler |
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ISO |
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RGD |
PMID:22240898 |
RGD:11040584 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bag1 |
BAG cochaperone 1 |
treatment |
ISO |
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RGD |
PMID:18400759 |
RGD:13506921 |
NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
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Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:11299004 PMID:18938217 |
RGD:10054041, RGD:10054048 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bche |
butyrylcholinesterase |
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ISO |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:2953866 |
RGD:5688127 |
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Bcl2 |
BCL2, apoptosis regulator |
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IEP |
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RGD |
PMID:11299004 |
RGD:10054041 |
NCBI chr13:22,689,783...22,853,920
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Bdnf |
brain-derived neurotrophic factor |
treatment |
ISO |
mRNA, protein:decreased expression:cerebral cortex |
RGD |
PMID:18093249 PMID:17885687 PMID:19499586 |
RGD:10058981, RGD:10415531, RGD:10059353 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Casp3 |
caspase 3 |
treatment |
ISO |
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RGD |
PMID:10888929 PMID:15668790 |
RGD:13432082, RGD:10413886 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp8 |
caspase 8 |
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ISO |
protein:altered localization:cerebellum: |
RGD |
PMID:10197541 |
RGD:734695 |
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Casp9 |
caspase 9 |
severity |
ISO |
protein:increased expression:caudate nucleus: protein:increased expression:striatum: |
RGD |
PMID:12095160 PMID:12095160 |
RGD:13432083, RGD:13432083 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Cat |
catalase |
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IEP |
protein:decreased expression:brain |
RGD |
PMID:19445928 |
RGD:5130752 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cebpa |
CCAAT/enhancer binding protein alpha |
treatment |
ISO |
protein:altered localization:liver (mouse) |
RGD |
PMID:21651979 PMID:17213233 |
RGD:6484269, RGD:10401191 |
NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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Cebpb |
CCAAT/enhancer binding protein beta |
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ISO |
protein:increased expression:brain (mouse) |
RGD |
PMID:14749423 |
RGD:10401227 |
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Chat |
choline O-acetyltransferase |
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ISO |
mRNA:decreased expression:cerebral cortex |
RGD |
PMID:16987871 |
RGD:5686805 |
NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
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Cib1 |
calcium and integrin binding 1 |
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ISO |
mRNA:increased expression:head of caudate nucleus (mouse) |
RGD |
PMID:24324398 |
RGD:10401859 |
NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
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Cnr1 |
cannabinoid receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20929960 |
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NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
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Cnr2 |
cannabinoid receptor 2 |
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ISO IDA |
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RGD |
PMID:19115380 PMID:19115380 |
RGD:2316196, RGD:2316196 |
NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
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Cntf |
ciliary neurotrophic factor |
treatment |
IDA ISO |
human gene in a cynomolgus monkey model |
RGD |
PMID:12040055 PMID:9121555 |
RGD:628474, RGD:734795 |
NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
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Creb1 |
cAMP responsive element binding protein 1 |
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ISO IEP |
protein:decreased phosphorylation:neuron: |
RGD |
PMID:11967539 PMID:16420411 |
RGD:734817, RGD:10059577 |
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Crebbp |
CREB binding protein |
treatment disease_progression |
ISO |
protein:altered localization:nucleus |
RGD |
PMID:19291221 PMID:20448484 PMID:11264541 |
RGD:10059583, RGD:13432094, RGD:13432093 |
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Ctsh |
cathepsin H |
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ISO |
protein:increased expression:caudate nucleus |
RGD |
PMID:7561949 |
RGD:5686393 |
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
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Cycs |
cytochrome c, somatic |
severity |
ISO |
protein:altered localization:cytosol |
RGD |
PMID:12095160 |
RGD:13432083 |
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
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Diablo |
diablo, IAP-binding mitochondrial protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12930891 |
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NCBI chr12:33,055,784...33,070,400
Ensembl chr12:33,055,263...33,070,387
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Dlg4 |
discs large MAGUK scaffold protein 4 |
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ISO |
protein:decreased expression:cerebral cortex, synapse protein:decreased expression:prefrontal cortex |
RGD |
PMID:25568121 PMID:24728190 |
RGD:13432154, RGD:13432155 |
NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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Dnah6 |
dynein, axonemal, heavy chain 6 |
treatment |
ISO |
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RGD |
PMID:24282028 |
RGD:13432158 |
NCBI chr 4:105,064,123...105,284,361
Ensembl chr 4:105,064,125...105,284,376
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Drd1 |
dopamine receptor D1 |
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IEP ISS ISO |
OMIM:143100 protein:decreased expression:cerebral cortex (mouse) |
MouseDO RGD |
PMID:18815258 PMID:16905556 PMID:12111832 |
RGD:2302117, RGD:7248682, RGD:5686414 |
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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Drd2 |
dopamine receptor D2 |
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ISO |
protein:decreased expression:cerebral cortex (mouse) |
RGD |
PMID:12111832 PMID:16905556 |
RGD:5686414, RGD:7248682 |
NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
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Drd3 |
dopamine receptor D3 |
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ISO |
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RGD |
PMID:12111832 |
RGD:5686414 |
NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
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Drd5 |
dopamine receptor D5 |
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ISO |
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RGD |
PMID:12111832 |
RGD:5686414 |
NCBI chr14:72,489,347...72,490,774
Ensembl chr14:72,489,347...72,490,774
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Dusp1 |
dual specificity phosphatase 1 |
treatment |
IMP |
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RGD |
PMID:23392662 |
RGD:7771544 |
NCBI chr10:16,680,489...16,683,276
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Dynlt1 |
dynein light chain Tctex-type 1 |
treatment |
ISO |
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RGD |
PMID:24282028 |
RGD:13432158 |
NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881
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E2f1 |
E2F transcription factor 1 |
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IEP |
protein:increased expression:brain |
RGD |
PMID:18768156 |
RGD:2316262 |
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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Egfr |
epidermal growth factor receptor |
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ISO |
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RGD |
PMID:12890790 |
RGD:10047165 |
NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Egr1 |
early growth response 1 |
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ISO |
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RGD |
PMID:12191502 |
RGD:10395281 |
NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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Eif2ak2 |
eukaryotic translation initiation factor 2-alpha kinase 2 |
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ISO |
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RGD |
PMID:11468270 PMID:15567511 |
RGD:10395345, RGD:10395348 |
NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
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Elk1 |
ETS transcription factor ELK1 |
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ISO |
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RGD |
PMID:20126313 |
RGD:7488914 |
NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713
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Ep300 |
E1A binding protein p300 |
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ISO |
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RGD |
PMID:12586550 |
RGD:13432192 |
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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F2 |
coagulation factor II |
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ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:21297956 |
RGD:5147768 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Faah |
fatty acid amide hydrolase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20929960 |
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NCBI chr 5:129,479,774...129,499,018
Ensembl chr 5:129,479,824...129,498,677
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Fas |
Fas cell surface death receptor |
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ISO |
protein:decreased expression:putamen,caudate: |
RGD |
PMID:11054182 |
RGD:12903948 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg |
Fas ligand |
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ISO |
protein:decreased expression:putamen,caudate: |
RGD |
PMID:11054182 |
RGD:12903948 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Foxp1 |
forkhead box P1 |
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ISO |
mRNA:decreased expression:striatum (mouse) mRNA:decreased expression:caudate nucleus (human) |
RGD |
PMID:16405510 PMID:16405510 |
RGD:11560524, RGD:11560524 |
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
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ISO |
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RGD |
PMID:26268247 |
RGD:13792684 |
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Gdnf |
glial cell derived neurotrophic factor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16943855 |
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NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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G |
Git1 |
GIT ArfGAP 1 |
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ISO |
protein:decreased expression:cerebral cortex (human) |
RGD |
PMID:15383276 |
RGD:1549448 |
NCBI chr10:62,342,082...62,356,379
Ensembl chr10:62,342,299...62,356,373
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G |
Gja1 |
gap junction protein, alpha 1 |
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ISO |
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RGD |
PMID:10873295 |
RGD:7207854 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Glul |
glutamate-ammonia ligase |
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ISO |
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RGD |
PMID:6237280 PMID:3159462 |
RGD:10046047, RGD:13524508 |
NCBI chr13:65,969,064...66,035,121
Ensembl chr13:66,025,630...66,035,108
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Gpx1 |
glutathione peroxidase 1 |
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ISO |
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RGD |
PMID:18588971 |
RGD:13432193 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gpx6 |
glutathione peroxidase 6 |
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ISO |
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RGD |
PMID:18588971 |
RGD:13432193 |
NCBI chr17:43,408,472...43,416,091
Ensembl chr17:43,408,472...43,416,091
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G |
Grik2 |
glutamate ionotropic receptor kainate type subunit 2 |
onset |
ISO |
DNA:repeat: (human) |
RGD |
PMID:10522893 |
RGD:1358638 |
NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
onset |
ISO |
DNA:SNPs: :rs1969060 (human) DNA:SNPs: :rs8057394, rs2650427 (human) |
RGD |
PMID:17409241 PMID:15742215 PMID:17569088 |
RGD:13432195, RGD:13432556, RGD:13432554 |
NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
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G |
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:17409241 PMID:15742215 PMID:17569088 |
RGD:13432195, RGD:13432556, RGD:13432554 |
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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G |
Grm5 |
glutamate metabotropic receptor 5 |
treatment disease_progression |
ISO |
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RGD |
PMID:23489026 PMID:15306259 PMID:25160573 PMID:24282028 |
RGD:13432558, RGD:13432562, RGD:13432561, RGD:13432158 |
NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274
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G |
Gsr |
glutathione-disulfide reductase |
treatment |
IEP |
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RGD |
PMID:11490092 |
RGD:10401927 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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G |
Haao |
3-hydroxyanthranilate 3,4-dioxygenase |
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IDA |
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RGD |
PMID:2527078 |
RGD:13524507 |
NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877
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G |
Hap1 |
huntingtin-associated protein 1 |
onset no_association |
ISO |
DNA:SNP: :p.T441M (human) DNA:SNP: :rs4523977 (human) DNA:SNP:multiple |
RGD |
PMID:18192679 PMID:24324398 PMID:26000918 PMID:20512606 PMID:22402331 PMID:22698993 PMID:18192679 More...
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RGD:13432575, RGD:10401859, RGD:13432579, RGD:13432578, RGD:13432577, RGD:13432576, RGD:13432575 |
NCBI chr10:85,277,890...85,286,126
Ensembl chr10:85,277,890...85,286,126
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G |
Hdac1 |
histone deacetylase 1 |
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ISO |
protein:increased expression:striatum: mRNA:increased expression:cerebral cortex |
RGD |
PMID:22918830 PMID:22965876 |
RGD:9590098, RGD:10402189 |
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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G |
Hdac3 |
histone deacetylase 3 |
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ISO |
protein:increased expression:striatum: mRNA:increased expression:cerebral cortex |
RGD |
PMID:22918830 PMID:22965876 |
RGD:9590098, RGD:10402189 |
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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G |
Hdac7 |
histone deacetylase 7 |
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ISO |
protein:decreased expression:brain: |
RGD |
PMID:21118817 |
RGD:9681718 |
NCBI chr 7:128,923,918...128,962,025
Ensembl chr 7:128,923,920...128,962,072
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
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ISO |
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RGD |
PMID:17702587 |
RGD:5508462 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Hnmt |
histamine N-methyltransferase |
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ISO |
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RGD |
PMID:21106039 |
RGD:5509774 |
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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G |
Hpca |
hippocalcin |
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ISO |
mRNA:decreased expression:brain (human) |
RGD |
PMID:19686238 |
RGD:9693681 |
NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841
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G |
Hsf1 |
heat shock transcription factor 1 |
treatment |
ISO |
human gene in a mouse model protein:decreased expression:liver (mouse) |
RGD |
PMID:16051598 PMID:19443488 PMID:24381308 |
RGD:10402372, RGD:10402387, RGD:10402386 |
NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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G |
Hspa8 |
heat shock protein family A (Hsp70) member 8 |
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ISO |
protein: increased expression |
RGD |
PMID:22171050 |
RGD:5688778 |
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
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G |
Htra2 |
HtrA serine peptidase 2 |
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ISO |
protein:increased expression:striatal neuron (mouse) |
RGD |
PMID:18662332 |
RGD:5688723 |
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
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G |
Htt |
huntingtin |
onset treatment |
ISO IMP |
ClinVar Annotator: match by term: Huntington disease CTD Direct Evidence: marker/mechanism DNA:repeats:cds:CAG (human) mRNA:altered expression:cortex, striatum: |
ClinVar CTD OMIM RGD |
PMID:15218539 PMID:15312898 PMID:16137562 PMID:17018277 PMID:17925440 PMID:18831068 PMID:19094060 PMID:19476553 PMID:20929960 PMID:21867705 PMID:25741868 PMID:28111121 PMID:8898202 PMID:12620967 PMID:21163446 PMID:26938440 PMID:8242074 PMID:17940007 PMID:25062733 PMID:22731249 More...
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RGD:1302537, RGD:13452381, RGD:11062153, RGD:11062152, RGD:10403029, RGD:10403026, RGD:10402938, RGD:6902915 |
NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
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G |
Ift57 |
intraflagellar transport 57 |
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ISO |
protein:altered localization:cilia |
RGD |
PMID:25989602 |
RGD:13432581 |
NCBI chr11:51,051,520...51,124,909
Ensembl chr11:51,059,611...51,124,812
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G |
Ift88 |
intraflagellar transport 88 |
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ISO |
protein:altered localization:cilia |
RGD |
PMID:25989602 |
RGD:13432581 |
NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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G |
Igf1 |
insulin-like growth factor 1 |
treatment |
ISO |
human protein in a rat model |
RGD |
PMID:23384443 PMID:15371744 PMID:25140802 |
RGD:10045865, RGD:12904970, RGD:10045870 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igf1r |
insulin-like growth factor 1 receptor |
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ISO |
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RGD |
PMID:25140802 |
RGD:10045870 |
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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G |
Il6 |
interleukin 6 |
treatment |
ISO |
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RGD |
PMID:11860469 |
RGD:10402809 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Il6r |
interleukin 6 receptor |
treatment |
ISO |
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RGD |
PMID:11860469 |
RGD:10402809 |
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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G |
Ip6k2 |
inositol hexakisphosphate kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21652713 |
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NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
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ISO IEP |
protein:decreased activity:cerebellum, striatum (mouse) protein:decreased expression:neostriatum (rat) |
RGD |
PMID:21145001 PMID:9761455 PMID:19193873 |
RGD:6480685, RGD:6483009, RGD:6480875 |
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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G |
Kdm5c |
lysine demethylase 5C |
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ISO |
mRNA:increased expression:caudate nucleus (human) |
RGD |
PMID:23872847 |
RGD:9587806 |
NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
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RGD |
PMID:17093074 |
RGD:6483035 |
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Lep |
leptin |
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IEP |
protein:decreased expression:serum |
RGD |
PMID:19573560 |
RGD:5128676 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Maoa |
monoamine oxidase A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21075085 |
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NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
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G |
Maob |
monoamine oxidase B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21075085 |
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NCBI chr X:5,907,327...6,010,996
Ensembl chr X:5,907,266...6,011,003
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G |
Map2 |
microtubule-associated protein 2 |
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ISO |
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RGD |
PMID:20092829 |
RGD:6483090 |
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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G |
Map3k5 |
mitogen-activated protein kinase kinase kinase 5 |
onset treatment |
ISO |
protein:increased expression:cortex,striatum,nucleus: DNa:SNO:promoter:rs5880308(human) |
RGD |
PMID:19646509 PMID:18327563 PMID:19646509 |
RGD:10412311, RGD:10412314, RGD:10412311 |
NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
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G |
Mbp |
myelin basic protein |
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IEP |
protein:decreased expression:brain: |
RGD |
PMID:21906685 |
RGD:7349325 |
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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G |
Mir132 |
microRNA 132 |
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ISO |
down-regulated |
RGD |
PMID:21035445 |
RGD:11041745 |
NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796
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G |
Mir22 |
microRNA 22 |
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ISO |
down-regulated |
RGD |
PMID:21035445 |
RGD:11041745 |
NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133
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G |
Mir222 |
microRNA 222 |
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ISO |
down-regulated |
RGD |
PMID:21035445 |
RGD:11041745 |
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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G |
Mir448 |
microRNA 448 |
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ISO |
up-regulated |
RGD |
PMID:21035445 |
RGD:11041745 |
NCBI chr X:110,829,918...110,830,029
Ensembl chr X:110,829,918...110,830,029
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G |
Mmp9 |
matrix metallopeptidase 9 |
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IEP |
protein:increased expression:striatum |
RGD |
PMID:21175737 |
RGD:13204827 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Msh2 |
mutS homolog 2 |
onset |
ISO |
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RGD |
PMID:12554681 |
RGD:10412317 |
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
severity |
ISO |
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RGD |
PMID:20660112 |
RGD:13506651 |
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
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IMP |
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RGD |
PMID:20480544 |
RGD:5687693 |
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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G |
Mtnr1a |
melatonin receptor 1A |
treatment |
ISO |
mRNA:decreased expression:brain |
RGD |
PMID:21994366 PMID:21994366 |
RGD:9686058, RGD:9686058 |
NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919
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G |
Napepld |
N-acyl phosphatidylethanolamine phospholipase D |
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ISO |
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RGD |
PMID:23659592 |
RGD:10412654 |
NCBI chr 4:13,360,532...13,398,815
Ensembl chr 4:13,361,006...13,398,748
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G |
Ncor1 |
nuclear receptor co-repressor 1 |
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ISO |
protein:decreased expression:temporal cortex, neuron, nucleus (human) |
RGD |
PMID:10441327 |
RGD:5688338 |
NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
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IEP |
mRNA:increased expression:striatum |
RGD |
PMID:24008671 |
RGD:10412688 |
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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G |
Nfkb1 |
nuclear factor kappa B subunit 1 |
severity |
ISO |
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RGD |
PMID:11211235 |
RGD:10045663 |
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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G |
Ngfr |
nerve growth factor receptor |
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ISO |
mRNA:increased expression:caudate nucleus |
RGD |
PMID:18093249 |
RGD:10058981 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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G |
Nog |
noggin |
treatment |
ISO |
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RGD |
PMID:17885687 |
RGD:10415531 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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G |
Nos3 |
nitric oxide synthase 3 |
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IEP |
mRNA:increased expression:striatum (rat) |
RGD |
PMID:17850874 |
RGD:2292130 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Npy |
neuropeptide Y |
onset no_association |
ISO IEP |
DNA:SNP: :rs3037354 (human) mRNA:decreased expression:hypothalamus DNA:SNP: :rs16147 (human) |
RGD |
PMID:24121255 PMID:1710657 PMID:23697793 PMID:24121255 |
RGD:10431606, RGD:10433553, RGD:10433112, RGD:10431606 |
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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G |
Npy2r |
neuropeptide Y receptor Y2 |
onset |
ISO |
DNA:SNP: :rs2234759 (human) |
RGD |
PMID:24121255 |
RGD:10431606 |
NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024
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G |
Nrf1 |
nuclear respiratory factor 1 |
onset |
ISO |
mRNA:decreased expression:striatum DNA:SNPs: :rs6949152, rs7781972 (human) |
RGD |
PMID:20529956 PMID:21595933 |
RGD:6771173, RGD:6770890 |
NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19857538 |
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NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
Optn |
optineurin |
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ISO |
protein:increased expression:neuron, nucleus |
RGD |
PMID:22318854 |
RGD:6480499 |
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
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ISO |
protein:increased expression:neuron,astrocyte: |
RGD |
PMID:15668790 |
RGD:10413886 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Pcp4 |
Purkinje cell protein 4 |
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ISO |
protein:decreased expression:substantium |
RGD |
PMID:9697113 |
RGD:9850159 |
NCBI chr11:35,759,711...35,861,725
Ensembl chr11:35,800,713...35,861,725
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G |
Plcb3 |
phospholipase C beta 3 |
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ISO |
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RGD |
PMID:22917585 |
RGD:13432582 |
NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
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G |
Polr2a |
RNA polymerase II subunit A |
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ISO |
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RGD |
PMID:20089533 |
RGD:10043799 |
NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
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G |
Ppard |
peroxisome proliferator-activated receptor delta |
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ISS |
OMIM:143100 |
MouseDO |
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NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
onset severity no_association treatment |
ISO IEP IDA |
DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human) protein:increased expression:subthalamic nucleus (rat) DNA:snp:promoter:g.-1437T>C (rs2970870) (human) protein:increased expression:brain (human) DNA:missense mutation:cds:pT612M (rs3736265) (human) DNA:snp:intron:IVS2-19637A>G (rs7665116) (human) DNA:snps, haplotypes:multiple (human) mRNA:decreased expression:medium spiny neuron (mouse) mRNA:decreased expression:caudate nucleus (human) |
RGD |
PMID:22589246 PMID:22813864 PMID:21211002 PMID:21757867 PMID:19133136 PMID:24383721 PMID:21595933 PMID:19133136 PMID:21493629 PMID:17018277 PMID:20736066 PMID:17018277 PMID:17018277 PMID:21651979 More...
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RGD:6484259, RGD:10395291, RGD:10395290, RGD:10395289, RGD:10053656, RGD:10053663, RGD:6770890, RGD:10053656, RGD:10053650, RGD:7242018, RGD:10053648, RGD:7242018, RGD:7242018, RGD:6484269 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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G |
Ppp1r1b |
protein phosphatase 1, regulatory (inhibitor) subunit 1B |
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IEP |
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RGD |
PMID:18502785 |
RGD:13515080 |
NCBI chr10:83,347,731...83,356,775
Ensembl chr10:83,347,731...83,356,775
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G |
Ppp1r9a |
protein phosphatase 1, regulatory subunit 9A |
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ISO |
mRNA:decreased expression:striatum(mouse) mRNA:decreased expression:caudate nucleus |
RGD |
PMID:20089533 PMID:20089533 |
RGD:10043799, RGD:10043799 |
NCBI chr 4:32,970,501...33,292,360
Ensembl chr 4:33,024,450...33,286,907
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G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
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RGD |
PMID:19733666 |
RGD:6483320 |
NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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G |
Prkaa1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
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ISO |
protein:increased phosphorylation, altered localization:nucleus protein:altered localization:nucleus |
RGD |
PMID:21768291 PMID:21768291 |
RGD:6484534, RGD:6484534 |
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
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G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
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ISO |
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RGD |
PMID:19464273 |
RGD:10412729 |
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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G |
Psmb9 |
proteasome 20S subunit beta 9 |
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ISO |
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RGD |
PMID:14684867 |
RGD:6483364 |
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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IMP |
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RGD |
PMID:21362433 |
RGD:5508227 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Qprt |
quinolinate phosphoribosyltransferase |
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IDA |
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RGD |
PMID:2527078 |
RGD:13524507 |
NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486
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G |
Rcan1 |
regulator of calcineurin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270310 |
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NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
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G |
Setdb1 |
SET domain bifurcated histone lysine methyltransferase 1 |
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ISO |
protein:increased expression:neocortex, caudate nucleus (human) |
RGD |
PMID:17142323 |
RGD:9590159 |
NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
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G |
Sin3a |
SIN3 transcription regulator family member A |
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ISO |
protein:altered localization:cytoplasm |
RGD |
PMID:10441327 |
RGD:5688338 |
NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
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G |
Sirt1 |
sirtuin 1 |
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ISO |
human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human) protein:decreased expression:frontal cortex |
RGD |
PMID:22179316 PMID:9949199 PMID:18538940 |
RGD:9585998, RGD:10395240, RGD:9586004 |
NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
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G |
Slc18a3 |
solute carrier family 18 member A3 |
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ISO |
mRNA, protein:decreased expression:brain, spinal cord |
RGD |
PMID:16987871 |
RGD:5686805 |
NCBI chr16:7,713,630...7,716,491
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Slc1a2 |
solute carrier family 1 member 2 |
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ISO |
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RGD |
PMID:9100675 PMID:17409241 |
RGD:13432194, RGD:13432195 |
NCBI chr 3:89,005,129...89,126,498
Ensembl chr 3:89,005,129...89,126,498
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G |
Slc29a1 |
solute carrier family 29 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27567601 |
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NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
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G |
Sod2 |
superoxide dismutase 2 |
susceptibility |
ISO |
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RGD |
PMID:11161607 |
RGD:13464352 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Srsf6 |
serine and arginine rich splicing factor 6 |
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ISO |
protein:increased expression:striatum (human) |
RGD |
PMID:25038828 |
RGD:11039484 |
NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860
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G |
Syne3 |
spectrin repeat containing, nuclear envelope family member 3 |
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ISO |
up-regulated |
RGD |
PMID:22202438 |
RGD:11073597 |
NCBI chr 6:123,872,895...123,964,773
Ensembl chr 6:123,873,174...123,953,409
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G |
Tbp |
TATA box binding protein |
severity |
ISO |
protein:increased expression:middle frontal gyrus (human) |
RGD |
PMID:12531510 |
RGD:5684339 |
NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016
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G |
Tfam |
transcription factor A, mitochondrial |
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ISO |
mRNA:decreased expression:striatum |
RGD |
PMID:21595933 PMID:20529956 |
RGD:6770890, RGD:6771173 |
NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
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ISO |
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RGD |
PMID:12614934 |
RGD:1580169 |
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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G |
Trip10 |
thyroid hormone receptor interactor 10 |
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ISO |
protein:increased expression:striatum |
RGD |
PMID:12604778 |
RGD:11535137 |
NCBI chr 9:2,133,085...2,147,795
Ensembl chr 9:2,133,671...2,147,799
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G |
Tug1 |
taurine up-regulated 1 |
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ISO |
up-regulated |
RGD |
PMID:22202438 |
RGD:11073597 |
NCBI chr14:78,519,894...78,526,927
Ensembl chr14:78,522,506...78,526,927
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Ucp1 |
uncoupling protein 1 |
treatment |
ISO |
mRNA, protein:decreased expression:brown adipose tissue (mouse) |
RGD |
PMID:20561979 PMID:17055784 |
RGD:10045649, RGD:10045650 |
NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852
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G |
Ucp2 |
uncoupling protein 2 |
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ISO |
mRNA:decreased expression:peripheral blood (human) |
RGD |
PMID:23029535 |
RGD:10045655 |
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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Xpo5 |
exportin 5 |
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ISO |
mRNA:increased expression:striatum (mouse) |
RGD |
PMID:21035445 |
RGD:11041745 |
NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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G |
Zdhhc13 |
zinc finger DHHC-type palmitoyltransferase 13 |
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ISS |
OMIM:143100 |
MouseDO |
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NCBI chr 1:98,487,309...98,525,906
Ensembl chr 1:98,487,358...98,525,905
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G |
Zdhhc17 |
zinc finger DHHC-type palmitoyltransferase 17 |
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ISS |
OMIM:143100 |
MouseDO |
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NCBI chr 7:46,369,963...46,433,691
Ensembl chr 7:46,369,988...46,433,764
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Prnp |
prion protein |
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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: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:10665501 PMID:10790216 PMID:10889050 PMID:10953203 PMID:10970892 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11568919 PMID:11709001 PMID:11749972 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:15739100 PMID:15753435 PMID:15776279 PMID:15967879 PMID:15987701 PMID:16025285 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16314483 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16533975 PMID:16565881 PMID:16939293 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17494694 PMID:17666888 PMID:18425766 PMID:18955686 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:21269331 PMID:21298055 PMID:21616973 PMID:21839748 PMID:21909425 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22965875 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23527023 PMID:23555862 PMID:23668481 PMID:23723004 PMID:23871665 PMID:24583440 PMID:24838726 PMID:25022973 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25959220 PMID:26000326 PMID:26268049 PMID:26323476 PMID:26488179 PMID:26578040 PMID:26757195 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27803826 PMID:28492532 PMID:29092967 PMID:29382530 PMID:29458424 PMID:29887139 More...
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NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Pank2 |
pantothenate kinase 2 |
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ISO |
ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration |
OMIM ClinVar |
PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 PMID:14638969 PMID:15565311 PMID:15659606 PMID:15834858 PMID:16199547 PMID:16272150 PMID:16437574 PMID:16450344 PMID:22221393 PMID:22416811 PMID:23968566 PMID:24075960 PMID:24215330 PMID:24348190 PMID:25741868 PMID:25802776 PMID:26087139 PMID:26467025 PMID:26795593 PMID:27185474 PMID:28492532 PMID:28708303 PMID:28781879 PMID:29590070 PMID:32581362 More...
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NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
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Chrna6 |
cholinergic receptor nicotinic alpha 6 subunit |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr16:64,697,741...64,704,441
Ensembl chr16:64,697,741...64,704,441
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Chrnb3 |
cholinergic receptor nicotinic beta 3 subunit |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360
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G |
Duox2 |
dual oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
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NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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Fnta |
farnesyltransferase, CAAX box, alpha |
|
ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460
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G |
Hook3 |
hook microtubule-tethering protein 3 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23913003 |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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G |
Rnf170 |
ring finger protein 170 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
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G |
Slc20a2 |
solute carrier family 20 member 2 |
|
ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:22327515 PMID:23334463 PMID:25178512 PMID:25741868 PMID:27726124 PMID:28477710 PMID:28492532 More...
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NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
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Smim19 |
small integral membrane protein 19 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr16:69,551,470...69,565,450
Ensembl chr16:69,553,916...69,567,245
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G |
Thap1 |
THAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942
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G |
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:17576681 PMID:23255827 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25158255 PMID:25741868 PMID:26455322 PMID:28166811 PMID:28183292 PMID:28334876 PMID:28492532 PMID:31064749 More...
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NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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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 |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Xpr1 |
xenotropic and polytropic retrovirus receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 |
OMIM ClinVar |
PMID:886353 PMID:25741868 PMID:25938945 |
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NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946
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G |
Myorg |
myogenesis regulating glycosidase |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 PMID:30649222 PMID:30656188 PMID:31009047 More...
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NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
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Jam2 |
junctional adhesion molecule 2 |
|
ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive |
OMIM ClinVar |
PMID:26136916 PMID:31851307 PMID:32142645 |
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NCBI chr11:23,830,820...23,880,071
Ensembl chr11:23,831,106...23,880,063
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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:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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G |
Actrt2 |
actin-related protein T2 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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G |
Agrn |
agrin |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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G |
Ankrd65 |
ankyrin repeat domain 65 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
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Atad3a |
ATPase family, AAA domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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G |
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:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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C1qtnf12 |
C1q and TNF related 12 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
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G |
Ccdc27 |
coiled-coil domain containing 27 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
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Ccnl2 |
cyclin L2 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
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G |
Cdk11b |
cyclin-dependent kinase 11B |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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Cep104 |
centrosomal protein 104 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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G |
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:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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G |
Cptp |
ceramide-1-phosphate transfer protein |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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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:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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G |
Faap20 |
FA core complex associated protein 20 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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G |
Fndc10 |
fibronectin type III domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
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Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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G |
Gnb1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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Hes5 |
hes family bHLH transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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G |
Ints11 |
integrator complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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G |
Isg15 |
ISG15 ubiquitin-like modifier |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
OMIM ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:22859821 PMID:24033266 PMID:25307056 PMID:25741868 PMID:28492532 PMID:31674007 PMID:32402279 More...
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NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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G |
Klhl17 |
kelch-like family member 17 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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G |
Lrrc47 |
leucine rich repeat containing 47 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
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G |
Megf6 |
multiple EGF-like-domains 6 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
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G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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G |
Mir200a |
microRNA 200a |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,648,494...166,648,582
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G |
Mir200b |
microRNA 200b |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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G |
Mir429 |
microRNA 429 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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G |
Mmp23 |
matrix metallopeptidase 23 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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G |
Morn1 |
MORN repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
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G |
Mxra8 |
matrix remodeling associated 8 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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G |
Nadk |
NAD kinase |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
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G |
Noc2l |
NOC2-like nucleolar associated transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,820,075...166,831,951
Ensembl chr 5:166,820,161...166,831,949
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G |
Pank4 |
pantothenate kinase 4 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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G |
Plch2 |
phospholipase C, eta 2 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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G |
Plekhn1 |
pleckstrin homology domain containing N1 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
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G |
Prdm16 |
PR/SET domain 16 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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G |
Prkcz |
protein kinase C, zeta |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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G |
Prxl2b |
peroxiredoxin like 2B |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,462,610...165,465,213
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G |
Pusl1 |
pseudouridine synthase like 1 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
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G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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G |
RGD1311517 |
similar to RIKEN cDNA 9430015G10 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
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G |
Rnf223 |
ring finger protein 223 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,720,408...166,726,236
Ensembl chr 5:166,724,984...166,725,751
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G |
Samd11 |
sterile alpha motif domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,831,663...166,859,805
Ensembl chr 5:166,831,663...166,850,009
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G |
Sdf4 |
stromal cell derived factor 4 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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G |
Ski |
Ski proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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G |
Slc35e2b |
solute carrier family 35, member E2B |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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G |
Smim1 |
small integral membrane protein 1 (Vel blood group) |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,579,327...164,584,650
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G |
Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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G |
Tas1r3 |
taste 1 receptor member 3 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
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G |
Tmem240 |
transmembrane protein 240 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
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G |
Tmem52 |
transmembrane protein 52 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,048,667...166,050,423
Ensembl chr 5:166,046,565...166,050,433
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G |
Tmem88b |
transmembrane protein 88B |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
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G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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G |
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:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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G |
Tp73 |
tumor protein p73 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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G |
Tprg1l |
tumor protein p63 regulated 1-like |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
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G |
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
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G |
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:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
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G |
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
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G |
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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G |
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
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G |
Vcp |
valosin-containing protein |
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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:17889967 PMID:18341608 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19506019 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:21145000 PMID:21249466 PMID:21320982 PMID:21387114 PMID:21816654 PMID:21822278 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22572540 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23029473 PMID:23056506 PMID:23152587 PMID:23169451 PMID:23333620 PMID:23498975 PMID:24123792 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:26627873 PMID:27165006 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28692196 PMID:30279455 PMID:31848255 More...
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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G |
Hnrnpa2b1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
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ISO |
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 |
OMIM ClinVar |
PMID:9536098 PMID:11891683 PMID:17576681 PMID:23455423 PMID:25741868 PMID:28389692 PMID:28492532 PMID:29358076 More...
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NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
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G |
Hnrnpa1 |
heterogeneous nuclear ribonucleoprotein A1 |
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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 |
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NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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G |
Egf |
epidermal growth factor |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:24119107 |
RGD:10059681 |
NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
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G |
Hnrnpa1 |
heterogeneous nuclear ribonucleoprotein A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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G |
Hnrnpa2b1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
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ISO |
DNA:missense mutation:cds:p.D290V (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23455423 |
RGD:10395280 |
NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
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G |
Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:24119107 |
RGD:10059681 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Vcp |
valosin-containing protein |
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ISO |
CTD Direct Evidence: marker/mechanism 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 |
CTD ClinVar |
PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17763460 PMID:18341608 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19506019 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 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:25388089 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:25884947 PMID:26105173 PMID:26467025 PMID:26549226 PMID:26555887 PMID:27226613 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28692196 PMID:29754758 PMID:30279455 PMID:31848255 More...
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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