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G |
Myorg |
myogenesis regulating glycosidase (putative) |
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ISO |
OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chrNW_004955472:1,735,292...1,740,304
Ensembl chrNW_004955472:1,735,292...1,740,304
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
|
ISO |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
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G |
Slc20a2 |
solute carrier family 20 member 2 |
|
ISO |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chrNW_004955536:392,341...496,616
Ensembl chrNW_004955536:392,525...495,265
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G |
Adar |
adenosine deaminase RNA specific |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26629815 PMID:28139822 PMID:28492532 PMID:28561207 PMID:29221912 PMID:29603717 PMID:31772029 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 PMID:35859177 More...
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NCBI chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938
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G |
Atrip |
ATR interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME |
ClinVar |
PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20392289 PMID:20799324 PMID:21270825 PMID:21937424 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31585108 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35307828 PMID:35456422 PMID:35532072 PMID:36586737 More...
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NCBI chrNW_004955532:516,772...533,774
Ensembl chrNW_004955532:516,753...533,498
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G |
Ifih1 |
interferon induced with helicase C domain 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955449:11,538,869...11,596,502
Ensembl chrNW_004955449:11,538,889...11,593,349
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G |
Kat5 |
lysine acetyltransferase 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955422:19,557,498...19,565,044
Ensembl chrNW_004955422:19,557,498...19,565,036
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G |
Rnaseh2a |
ribonuclease H2 subunit A |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25604658 PMID:25741868 PMID:26182405 PMID:27943079 PMID:28492532 PMID:31069529 PMID:31130681 PMID:33707687 PMID:35551623 PMID:36430958 More...
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NCBI chrNW_004955415:31,884,533...31,894,159
Ensembl chrNW_004955415:31,884,533...31,898,433
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G |
Rnaseh2b |
ribonuclease H2 subunit B |
|
ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:21177858 PMID:22149989 PMID:23165795 PMID:24033266 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25614871 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:27943079 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:30111349 PMID:30223285 PMID:30609409 PMID:30826161 PMID:31130284 PMID:31130681 PMID:31367981 PMID:31529068 PMID:31664448 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:33258288 PMID:33307271 PMID:33967934 PMID:34042169 PMID:36775013 PMID:37296061 More...
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NCBI chrNW_004955431:4,291,687...4,368,169
Ensembl chrNW_004955431:4,291,688...4,351,178
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G |
Rnaseh2c |
ribonuclease H2 subunit C |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:21177854 PMID:23322642 PMID:24183309 PMID:25604658 PMID:25741868 PMID:28492532 PMID:28739201 PMID:29150899 PMID:29239743 PMID:30315573 PMID:31529068 PMID:32404165 PMID:34302356 More...
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NCBI chrNW_004955422:19,556,129...19,557,416
Ensembl chrNW_004955422:19,556,396...19,557,307
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G |
Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:22174685 PMID:22461318 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24445253 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:27943079 PMID:28229507 PMID:28492532 PMID:30275001 PMID:32371413 PMID:32384610 PMID:34492268 PMID:36115319 PMID:36311265 PMID:37152446 More...
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NCBI chrNW_004955422:24,714,103...24,780,672
Ensembl chrNW_004955422:24,735,161...24,778,830
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G |
Tldc2 |
TBC/LysM-associated domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955422:24,781,476...24,795,112
Ensembl chrNW_004955422:24,781,806...24,793,625
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G |
Trex1 |
three prime repair exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME |
ClinVar |
PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20392289 PMID:20799324 PMID:21270825 PMID:21937424 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31585108 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35307828 PMID:35456422 PMID:35532072 PMID:36586737 More...
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NCBI chrNW_004955532:533,877...535,767
Ensembl chrNW_004955532:533,877...535,767
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G |
Usp18 |
ubiquitin specific peptidase 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004955454:6,171,575...6,200,879
Ensembl chrNW_004955454:6,171,569...6,203,091
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G |
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 chrNW_004955532:1,618,659...1,621,706
Ensembl chrNW_004955532:1,619,532...1,621,064
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G |
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 chrNW_004955532:1,351,743...1,358,220
Ensembl chrNW_004955532:1,351,743...1,358,220
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G |
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 chrNW_004955532:1,580,473...1,590,274
Ensembl chrNW_004955532:1,580,553...1,590,138
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G |
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 chrNW_004955532:933,749...1,008,619
Ensembl chrNW_004955532:933,749...1,008,619
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G |
Atrip |
ATR interacting protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant |
ClinVar |
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:19344873 PMID:19875384 PMID:20131292 PMID:20392289 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 PMID:22718116 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23918923 PMID:23979357 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25500883 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:27604306 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29453956 PMID:29859840 PMID:30219631 PMID:31056085 PMID:31130681 PMID:31585108 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32483926 PMID:32860008 PMID:32877590 PMID:33042144 PMID:33476576 PMID:33504652 PMID:33528079 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:35307828 PMID:35456422 PMID:35532072 PMID:35803721 PMID:35879334 PMID:36586737 PMID:36964972 PMID:37171742 PMID:37865086 More...
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NCBI chrNW_004955532:516,772...533,774
Ensembl chrNW_004955532:516,753...533,498
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G |
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 chrNW_004955532:1,527,336...1,578,394
Ensembl chrNW_004955532:1,527,477...1,570,670
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G |
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 chrNW_004955532:1,747,359...1,762,978
Ensembl chrNW_004955532:1,747,359...1,760,110
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G |
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 chrNW_004955532:1,150,053...1,153,965
Ensembl chrNW_004955532:1,150,321...1,154,112
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G |
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 chrNW_004955532:1,644,995...1,690,897
Ensembl chrNW_004955532:1,683,570...1,690,834
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G |
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 chrNW_004955532:724,306...749,192
Ensembl chrNW_004955532:725,243...749,173
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G |
Cimip7 |
ciliary microtubule inner protein 7 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:1,163,399...1,172,197
Ensembl chrNW_004955532:1,163,353...1,198,237
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G |
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 chrNW_004955532:650,913...681,186
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G |
CUNH3orf62 |
chromosome unknown C3orf62 homolog |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:1,243,732...1,245,499
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G |
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 chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312
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G |
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 chrNW_004955532:1,038,861...1,042,362
Ensembl chrNW_004955532:1,038,970...1,041,984
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G |
Dclre1c |
DNA cross-link repair 1C |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 |
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NCBI chrNW_004955429:19,461,446...19,501,908
Ensembl chrNW_004955429:19,461,528...19,505,321
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G |
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 chrNW_004955532:1,622,605...1,624,900
Ensembl chrNW_004955532:1,622,605...1,624,900
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G |
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 chrNW_004955532:2,059,038...2,079,120
Ensembl chrNW_004955532:2,059,038...2,079,957
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G |
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 chrNW_004955532:2,018,850...2,023,603
Ensembl chrNW_004955532:2,018,850...2,023,603
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G |
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 chrNW_004955532:1,298,336...1,298,830
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G |
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 chrNW_004955532:2,113,016...2,116,093
Ensembl chrNW_004955532:2,112,771...2,115,952
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G |
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 chrNW_004955532:2,107,019...2,112,356
Ensembl chrNW_004955532:2,106,565...2,108,892
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G |
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 chrNW_004955532:2,101,202...2,106,779
Ensembl chrNW_004955532:2,101,202...2,104,104
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G |
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 chrNW_004955532:1,198,316...1,226,875
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G |
Impdh2 |
inosine monophosphate dehydrogenase 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:1,047,138...1,051,980
Ensembl chrNW_004955532:1,045,833...1,051,978
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G |
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 chrNW_004955532:1,695,956...1,697,521
Ensembl chrNW_004955532:1,695,956...1,697,485
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G |
Ip6k1 |
inositol hexakisphosphate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:1,625,298...1,644,973
Ensembl chrNW_004955532:1,625,298...1,644,973
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G |
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 chrNW_004955532:766,577...794,461
Ensembl chrNW_004955532:766,577...794,409
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G |
Klhdc8b |
kelch domain containing 8B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:1,158,888...1,162,710
Ensembl chrNW_004955532:1,158,162...1,163,305
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G |
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 chrNW_004955532:1,115,412...1,127,264
Ensembl chrNW_004955532:1,115,087...1,127,455
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G |
LOC102005965 |
cytochrome b-c1 complex subunit 1, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:685,315...691,286
Ensembl chrNW_004955532:685,395...696,554
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G |
Lsmem2 |
leucine rich single-pass membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:2,096,231...2,101,541
Ensembl chrNW_004955532:2,096,770...2,100,876
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G |
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 chrNW_004955532:1,793,233...1,811,675
Ensembl chrNW_004955532:1,790,929...1,812,125
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G |
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 chrNW_004955532:1,590,685...1,595,655
Ensembl chrNW_004955532:1,590,755...1,595,148
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Mst1r |
macrophage stimulating 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:1,774,726...1,789,662
Ensembl chrNW_004955532:1,775,033...1,787,990
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Naa80 |
N-alpha-acetyltransferase 80, NatH catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:2,109,595...2,112,013
Ensembl chrNW_004955532:2,110,133...2,110,744
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G |
Nckipsd |
NCK interacting protein with SH3 domain |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:755,997...766,202
Ensembl chrNW_004955532:755,997...764,855
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G |
Ndufaf3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:1,045,854...1,046,738
Ensembl chrNW_004955532:1,045,852...1,046,594
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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 chrNW_004955532:1,358,251...1,363,481
Ensembl chrNW_004955532:1,358,251...1,363,470
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G |
P4htm |
prolyl 4-hydroxylase, transmembrane |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:1,015,259...1,029,749
Ensembl chrNW_004955532:1,015,259...1,029,749
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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 chrNW_004955532:606,597...644,238
Ensembl chrNW_004955532:606,643...644,027
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G |
Prkar2a |
protein kinase cAMP-dependent type II regulatory subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:827,112...896,487
Ensembl chrNW_004955532:827,418...852,845
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G |
Qars1 |
glutaminyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:1,093,444...1,100,591
Ensembl chrNW_004955532:1,092,125...1,100,603
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G |
Qrich1 |
glutamine rich 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:1,052,174...1,092,211
Ensembl chrNW_004955532:1,052,174...1,091,449
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G |
Rbm5 |
RNA binding motif protein 5 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:1,929,540...1,957,297
Ensembl chrNW_004955532:1,929,043...1,956,812
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G |
Rbm6 |
RNA binding motif protein 6 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:1,811,794...1,914,551
Ensembl chrNW_004955532:1,811,794...1,916,328
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G |
Rhoa |
ras homolog family member A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451
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G |
Rnaseh2b |
ribonuclease H2 subunit B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955431:4,291,687...4,368,169
Ensembl chrNW_004955431:4,291,688...4,351,178
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G |
Rnf123 |
ring finger protein 123 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:1,595,970...1,622,633
Ensembl chrNW_004955532:1,596,080...1,625,672
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G |
Sema3b |
semaphorin 3B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:2,083,457...2,093,327
Ensembl chrNW_004955532:2,085,319...2,093,499
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G |
Sema3f |
semaphorin 3F |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:1,992,417...2,015,879
Ensembl chrNW_004955532:1,988,486...2,017,170
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G |
Shisa5 |
shisa family member 5 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004955532:535,992...544,542
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G |
Slc25a20 |
solute carrier family 25 member 20 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:902,937...933,675
Ensembl chrNW_004955532:902,937...921,174
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G |
Slc26a6 |
solute carrier family 26 member 6 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:713,725...723,190
Ensembl chrNW_004955532:713,215...722,817
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G |
Slc38a3 |
solute carrier family 38 member 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:2,023,694...2,046,556
Ensembl chrNW_004955532:2,023,694...2,050,708
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G |
Tcta |
T cell leukemia translocation altered |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:1,347,639...1,349,864
Ensembl chrNW_004955532:1,347,639...1,349,864
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G |
Traip |
TRAF interacting protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:1,725,608...1,746,690
Ensembl chrNW_004955532:1,726,061...1,746,591
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G |
Trex1 |
three prime repair exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant |
OMIM ClinVar |
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:19344873 PMID:19875384 PMID:20131292 PMID:20392289 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 PMID:22718116 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23918923 PMID:23979357 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25500883 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:27604306 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29453956 PMID:29859840 PMID:30219631 PMID:31056085 PMID:31130681 PMID:31585108 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32483926 PMID:32860008 PMID:32877590 PMID:33042144 PMID:33476576 PMID:33504652 PMID:33528079 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:35307828 PMID:35456422 PMID:35532072 PMID:35803721 PMID:35879334 PMID:36586737 PMID:36964972 PMID:37171742 PMID:37865086 More...
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NCBI chrNW_004955532:533,877...535,767
Ensembl chrNW_004955532:533,877...535,767
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G |
Uba7 |
ubiquitin like modifier activating enzyme 7 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:1,697,667...1,706,668
Ensembl chrNW_004955532:1,695,956...1,706,676
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G |
Ucn2 |
urocortin 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:648,845...650,020
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G |
Usp19 |
ubiquitin specific peptidase 19 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:1,104,212...1,115,267
Ensembl chrNW_004955532:1,104,591...1,113,567
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G |
Usp4 |
ubiquitin specific peptidase 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:1,247,110...1,284,564
Ensembl chrNW_004955532:1,247,110...1,285,121
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G |
Wdr6 |
WD repeat domain 6 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004955532:1,029,857...1,039,020
Ensembl chrNW_004955532:1,028,466...1,039,020
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G |
Rnaseh2b |
ribonuclease H2 subunit B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:21177858 PMID:22149989 PMID:22882256 PMID:23165795 PMID:24033266 PMID:24183309 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25614871 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26846091 PMID:26860721 PMID:26903602 PMID:27009121 PMID:27943079 PMID:28332073 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:30111349 PMID:30223285 PMID:30609409 PMID:30826161 PMID:30889214 PMID:31130284 PMID:31130681 PMID:31367981 PMID:31529068 PMID:31664448 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:32488064 PMID:33084218 PMID:33258288 PMID:33307271 PMID:33482855 PMID:33967934 PMID:33981319 PMID:34042169 PMID:36775013 PMID:37296061 More...
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NCBI chrNW_004955431:4,291,687...4,368,169
Ensembl chrNW_004955431:4,291,688...4,351,178
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G |
Actn3 |
actinin alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,799,372...18,812,458
Ensembl chrNW_004955422:18,799,372...18,812,711
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G |
Acy3 |
aminoacylase 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:17,852,295...17,856,946
Ensembl chrNW_004955422:17,852,329...17,859,781
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G |
Aip |
AHR interacting HSP90 co-chaperone |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:17,997,683...18,003,888
Ensembl chrNW_004955422:17,997,683...18,004,201
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G |
Aldh3b1 |
aldehyde dehydrogenase 3 family member B1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:17,786,495...17,801,014
Ensembl chrNW_004955422:17,785,288...17,798,319
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G |
Ankrd13d |
ankyrin repeat domain 13D |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,159,337...18,170,480
Ensembl chrNW_004955422:18,159,337...18,170,480
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G |
Ano1 |
anoctamin 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:16,064,526...16,213,614
Ensembl chrNW_004955422:16,064,475...16,214,360
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G |
Ap5b1 |
adaptor related protein complex 5 subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004955422:19,544,255...19,547,212
Ensembl chrNW_004955422:19,544,344...19,547,429
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G |
B4gat1 |
beta-1,4-glucuronyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,979,545...18,981,889
Ensembl chrNW_004955422:18,979,545...18,981,889
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G |
Banf1 |
barrier to autointegration nuclear assembly factor 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,337,038...19,338,824
Ensembl chrNW_004955422:19,337,038...19,338,824
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G |
Bbs1 |
Bardet-Biedl syndrome 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,825,756...18,843,820
Ensembl chrNW_004955422:18,825,756...18,844,036
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G |
Brms1 |
BRMS1 transcriptional repressor and anoikis regulator |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,981,984...18,989,730
Ensembl chrNW_004955422:18,982,082...18,989,730
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G |
Cabp2 |
calcium binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:17,967,313...17,972,468
Ensembl chrNW_004955422:17,967,313...17,972,468
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G |
Cabp4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,023,639...18,028,845
Ensembl chrNW_004955422:18,023,639...18,028,845
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G |
Capn1 |
calpain 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:20,006,448...20,026,984
Ensembl chrNW_004955422:20,004,426...20,025,708
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G |
Carns1 |
carnosine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,051,721...18,061,500
Ensembl chrNW_004955422:18,051,721...18,061,487
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G |
Catsper1 |
cation channel sperm associated 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,315,640...19,322,868
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G |
Ccdc85b |
coiled-coil domain containing 85B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,432,368...19,433,386
Ensembl chrNW_004955422:19,432,602...19,433,210
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G |
Ccdc87 |
coiled-coil domain containing 87 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,772,869...18,775,548
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G |
Ccnd1 |
cyclin D1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
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G |
Ccs |
copper chaperone for superoxide dismutase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,761,703...18,772,762
Ensembl chrNW_004955422:18,758,580...18,772,757
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G |
Cd248 |
CD248 molecule |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,006,618...19,009,532
Ensembl chrNW_004955422:19,006,653...19,009,322
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G |
Cdc42ep2 |
CDC42 effector protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,922,179...19,928,570
Ensembl chrNW_004955422:19,922,179...19,928,570
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G |
Cdk2ap2 |
cyclin dependent kinase 2 associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:17,981,267...17,983,480
Ensembl chrNW_004955422:17,981,267...17,984,517
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G |
Cfl1 |
cofilin 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004955422:19,479,181...19,482,571
Ensembl chrNW_004955422:19,479,181...19,482,571
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G |
Chka |
choline kinase alpha |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:17,710,981...17,766,256
Ensembl chrNW_004955422:17,710,434...17,766,256
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G |
Clcf1 |
cardiotrophin like cytokine factor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,097,779...18,108,628
Ensembl chrNW_004955422:18,097,779...18,108,628
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G |
Cnih2 |
cornichon family AMPA receptor auxiliary protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,033,201...19,035,135
Ensembl chrNW_004955422:19,033,201...19,035,138
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G |
Coro1b |
coronin 1B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,035,629...18,041,009
Ensembl chrNW_004955422:18,034,873...18,041,483
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Cpt1a |
carnitine palmitoyltransferase 1A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
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Cst6 |
cystatin E/M |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,326,302...19,327,449
Ensembl chrNW_004955422:19,313,352...19,327,360
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G |
Ctsf |
cathepsin F |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,794,207...18,799,245
Ensembl chrNW_004955422:18,793,367...18,802,535
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Ctsw |
cathepsin W |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,439,997...19,443,451
Ensembl chrNW_004955422:19,440,394...19,443,412
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CUNH11orf24 |
chromosome unknown C11orf24 homolog |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:17,563,188...17,573,079
Ensembl chrNW_004955422:17,567,268...17,574,503
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G |
Dpf2 |
double PHD fingers 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,894,502...19,910,989
Ensembl chrNW_004955422:19,892,189...19,910,989
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Dpp3 |
dipeptidyl peptidase 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,844,391...18,865,050
Ensembl chrNW_004955422:18,844,138...18,865,050
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G |
Drap1 |
DR1 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,406,106...19,408,232
Ensembl chrNW_004955422:19,406,106...19,408,232
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G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004955422:19,463,090...19,470,605
Ensembl chrNW_004955422:19,463,987...19,470,605
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G |
Ehbp1l1 |
EH domain binding protein 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004955422:19,670,778...19,689,008
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G |
Eif1ad |
eukaryotic translation initiation factor 1A domain containing |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,339,111...19,343,673
Ensembl chrNW_004955422:19,339,111...19,345,109
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G |
Fadd |
Fas associated via death domain |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:16,026,323...16,035,808
Ensembl chrNW_004955422:16,031,280...16,036,281
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G |
Fam89b |
family with sequence similarity 89 member B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004955422:19,690,806...19,693,575
Ensembl chrNW_004955422:19,691,352...19,692,377
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G |
Fgf19 |
fibroblast growth factor 19 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:16,415,880...16,419,528
Ensembl chrNW_004955422:16,415,648...16,420,515
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G |
Fgf3 |
fibroblast growth factor 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:16,333,363...16,339,853
Ensembl chrNW_004955422:16,333,363...16,339,853
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G |
Fgf4 |
fibroblast growth factor 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:16,362,418...16,364,126
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G |
Fibp |
FGF1 intracellular binding protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,435,528...19,440,095
Ensembl chrNW_004955422:19,435,380...19,440,095
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G |
Fosl1 |
FOS like 1, AP-1 transcription factor subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:19,425,741...19,431,801
Ensembl chrNW_004955422:19,423,591...19,433,885
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G |
Frmd8 |
FERM domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:19,830,211...19,848,653
Ensembl chrNW_004955422:19,828,177...19,848,758
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G |
Gal |
galanin and GMAP prepropeptide |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:17,202,770...17,207,948
Ensembl chrNW_004955422:17,202,946...17,207,948
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G |
Gal3st3 |
galactose-3-O-sulfotransferase 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:19,259,551...19,267,600
Ensembl chrNW_004955422:19,263,468...19,267,029
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G |
Gpr152 |
G protein-coupled receptor 152 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,029,704...18,034,051
Ensembl chrNW_004955422:18,029,884...18,031,610
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G |
Grk2 |
G protein-coupled receptor kinase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,173,438...18,192,357
Ensembl chrNW_004955422:18,170,616...18,192,412
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G |
Gstp1 |
glutathione S-transferase pi 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
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G |
Ighmbp2 |
immunoglobulin mu DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:17,017,855...17,047,724
Ensembl chrNW_004955422:17,017,358...17,048,650
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G |
Kat5 |
lysine acetyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600438 |
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NCBI chrNW_004955422:19,557,498...19,565,044
Ensembl chrNW_004955422:19,557,498...19,565,036
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G |
Kcnk7 |
potassium two pore domain channel subfamily K member 7 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chrNW_004955422:19,666,974...19,670,449
Ensembl chrNW_004955422:19,666,974...19,670,449
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G |
Kdm2a |
lysine demethylase 2A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,201,243...18,308,163
Ensembl chrNW_004955422:18,200,758...18,308,163
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G |
Klc2 |
kinesin light chain 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:19,047,942...19,057,153
Ensembl chrNW_004955422:19,047,942...19,057,547
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G |
Kmt5b |
lysine methyltransferase 5B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:17,626,606...17,684,890
Ensembl chrNW_004955422:17,647,530...17,682,132
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G |
LOC102023047 |
chromosome unknown open reading frame, human C11orf68 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:19,409,368...19,410,742
Ensembl chrNW_004955422:19,409,369...19,410,124
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G |
LOC102027539 |
chromosome unknown open reading frame, human C11orf86 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,407,695...18,415,495
Ensembl chrNW_004955422:18,407,636...18,421,606
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G |
Lrfn4 |
leucine rich repeat and fibronectin type III domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,524,786...18,527,916
Ensembl chrNW_004955422:18,524,786...18,527,916
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G |
Lrp5 |
LDL receptor related protein 5 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004955422:19,714,161...19,730,344
Ensembl chrNW_004955422:19,714,627...19,729,855
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G |
Lto1 |
LTO1 maturation factor of ABCE1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:16,433,589...16,440,506
Ensembl chrNW_004955422:16,433,743...16,441,739
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G |
Map3k11 |
mitogen-activated protein kinase kinase kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004955422:19,651,371...19,666,468
Ensembl chrNW_004955422:19,651,372...19,667,924
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G |
Mrgprd |
MAS related GPR family member D |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:16,980,896...16,981,906
Ensembl chrNW_004955422:16,980,932...16,981,903
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G |
Mrgprf |
MAS related GPR family member F |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:16,950,136...16,957,971
Ensembl chrNW_004955422:16,950,136...16,958,623
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G |
Mrpl11 |
mitochondrial ribosomal protein L11 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,897,202...18,901,896
Ensembl chrNW_004955422:18,897,027...18,903,975
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G |
Mrpl21 |
mitochondrial ribosomal protein L21 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:17,047,782...17,060,963
Ensembl chrNW_004955422:17,047,782...17,061,913
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G |
Mus81 |
MUS81 structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004955422:19,471,552...19,479,121
Ensembl chrNW_004955422:19,471,552...19,479,121
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G |
Ndufs8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:17,781,374...17,785,395
Ensembl chrNW_004955422:17,781,204...17,784,404
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G |
Ndufv1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:17,876,496...17,881,773
Ensembl chrNW_004955422:17,873,872...17,881,773
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G |
Npas4 |
neuronal PAS domain protein 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,907,328...18,913,088
Ensembl chrNW_004955422:18,907,322...18,913,428
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G |
Nudt8 |
nudix hydrolase 8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:17,867,395...17,876,272
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G |
Ovol1 |
ovo like transcriptional repressor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004955422:19,524,420...19,528,938
Ensembl chrNW_004955422:19,522,384...19,534,450
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G |
Pacs1 |
phosphofurin acidic cluster sorting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:19,070,369...19,240,424
Ensembl chrNW_004955422:19,070,414...19,240,424
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G |
Pc |
pyruvate carboxylase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
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G |
Pcnx3 |
pecanex 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chrNW_004955422:19,628,243...19,650,163
Ensembl chrNW_004955422:19,628,696...19,649,634
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G |
Peli3 |
pellino E3 ubiquitin protein ligase family member 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,868,696...18,877,826
Ensembl chrNW_004955422:18,868,696...18,877,438
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G |
Pitpnm1 |
phosphatidylinositol transfer protein membrane associated 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:17,985,698...17,997,204
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G |
Pola2 |
DNA polymerase alpha 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:19,939,971...19,963,753
Ensembl chrNW_004955422:19,939,933...19,963,753
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G |
Pold4 |
DNA polymerase delta 4, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,116,604...18,118,280
Ensembl chrNW_004955422:18,116,610...18,118,280
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G |
Ppp1ca |
protein phosphatase 1 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,076,670...18,079,859
Ensembl chrNW_004955422:18,076,670...18,079,859
|
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G |
Ppp6r3 |
protein phosphatase 6 regulatory subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:17,247,133...17,387,870
Ensembl chrNW_004955422:17,247,076...17,387,990
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G |
Ptprcap |
protein tyrosine phosphatase receptor type C associated protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,041,094...18,043,687
Ensembl chrNW_004955422:18,042,894...18,043,448
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G |
Rab1b |
RAB1B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:19,039,741...19,047,088
Ensembl chrNW_004955422:19,039,632...19,047,088
|
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G |
Rad9a |
RAD9 checkpoint clamp component A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,079,634...18,146,122
Ensembl chrNW_004955422:18,079,652...18,085,548
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G |
Rce1 |
Ras converting CAAX endopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,538,251...18,541,322
Ensembl chrNW_004955422:18,538,251...18,541,863
|
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
|
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G |
Rhod |
ras homolog family member D |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,343,611...18,353,269
Ensembl chrNW_004955422:18,342,898...18,353,269
|
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G |
Rin1 |
Ras and Rab interactor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:18,989,814...18,996,570
Ensembl chrNW_004955422:18,990,698...18,997,838
|
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G |
Rnaseh2c |
ribonuclease H2 subunit C |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:21177854 PMID:23322642 PMID:24183309 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28600438 PMID:28739201 PMID:29150899 PMID:29239743 PMID:29389947 PMID:30315573 PMID:31130681 PMID:31529068 PMID:32404165 PMID:34008892 PMID:34055681 PMID:34302356 PMID:36585007 PMID:37092250 More...
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NCBI chrNW_004955422:19,556,129...19,557,416
Ensembl chrNW_004955422:19,556,396...19,557,307
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Rps6kb2 |
ribosomal protein S6 kinase B2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,043,785...18,050,406
Ensembl chrNW_004955422:18,041,729...18,050,406
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Sart1 |
spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,360,641...19,370,623
Ensembl chrNW_004955422:19,360,641...19,371,105
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Scyl1 |
SCY1 like pseudokinase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,730,224...19,742,348
Ensembl chrNW_004955422:19,730,224...19,742,348
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Sf3b2 |
splicing factor 3b subunit 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,242,041...19,266,479
Ensembl chrNW_004955422:19,240,974...19,257,104
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Sipa1 |
signal-induced proliferation-associated 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004955422:19,615,440...19,627,195
Ensembl chrNW_004955422:19,615,440...19,627,088
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Slc25a45 |
solute carrier family 25 member 45 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,854,935...19,864,585
Ensembl chrNW_004955422:19,854,708...19,866,538
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Slc29a2 |
solute carrier family 29 member 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,960,862...18,970,312
Ensembl chrNW_004955422:18,960,862...18,972,676
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Sptbn2 |
spectrin beta, non-erythrocytic 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,659,489...18,699,338
Ensembl chrNW_004955422:18,659,489...18,699,338
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Ssh3 |
slingshot protein phosphatase 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,149,846...18,158,257
Ensembl chrNW_004955422:18,147,149...18,158,254
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Syt12 |
synaptotagmin 12 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,359,105...18,381,312
Ensembl chrNW_004955422:18,357,025...18,374,621
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Tbc1d10c |
TBC1 domain family member 10C |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,069,686...18,075,795
Ensembl chrNW_004955422:18,069,686...18,075,794
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Tbx10 |
T-box transcription factor 10 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:17,857,038...17,866,507
Ensembl chrNW_004955422:17,859,775...17,866,226
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Tcirg1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:17,768,469...17,778,976
Ensembl chrNW_004955422:17,768,469...17,779,003
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Tesmin |
testis expressed metallothionein like protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:17,161,396...17,199,649
Ensembl chrNW_004955422:17,160,711...17,199,701
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Tigd3 |
tigger transposable element derived 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,880,777...19,883,567
Ensembl chrNW_004955422:19,880,777...19,883,567
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Tmem134 |
transmembrane protein 134 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,013,547...18,018,155
Ensembl chrNW_004955422:18,013,617...18,017,865
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Tmem151a |
transmembrane protein 151A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,021,524...19,026,241
Ensembl chrNW_004955422:19,019,879...19,026,247
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Top6bl |
TOP6B like initiator of meiotic double strand breaks |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,541,350...18,726,269
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Tpcn2 |
two pore segment channel 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:16,899,730...16,923,962
Ensembl chrNW_004955422:16,900,239...16,923,978
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Tsga10ip |
testis specific 10 interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,372,072...19,389,144
Ensembl chrNW_004955422:19,372,879...19,389,049
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Unc93b1 |
unc-93 homolog B1, TLR signaling regulator |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:17,814,174...17,823,945
Ensembl chrNW_004955422:17,814,079...17,824,190
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Yif1a |
Yip1 interacting factor homolog A, membrane trafficking protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:19,028,871...19,032,850
Ensembl chrNW_004955422:19,028,291...19,032,850
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Zdhhc24 |
zinc finger DHHC-type containing 24 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:18,813,325...18,819,878
Ensembl chrNW_004955422:18,812,821...18,819,878
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Znrd2 |
zinc ribbon domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004955422:19,693,190...19,694,995
Ensembl chrNW_004955422:19,693,195...19,694,995
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Best2 |
bestrophin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,846,053...31,851,628
Ensembl chrNW_004955415:31,846,047...31,851,962
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Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595
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Calr |
calreticulin |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,985,147...31,989,372
Ensembl chrNW_004955415:31,985,147...31,989,372
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Dand5 |
DAN domain BMP antagonist family member 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:32,012,637...32,015,965
Ensembl chrNW_004955415:32,012,637...32,015,965
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Dhps |
deoxyhypusine synthase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,778,632...31,782,782
Ensembl chrNW_004955415:31,778,632...31,782,782
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Dnase2 |
deoxyribonuclease 2, lysosomal |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,936,588...31,939,540
Ensembl chrNW_004955415:31,936,757...31,939,339
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Farsa |
phenylalanyl-tRNA synthetase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,972,888...31,981,424
Ensembl chrNW_004955415:31,968,980...31,981,424
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Fbxw9 |
F-box and WD repeat domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,788,115...31,794,174
Ensembl chrNW_004955415:31,787,002...31,794,174
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Gadd45gip1 |
GADD45G interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,997,679...32,000,009
Ensembl chrNW_004955415:31,994,319...32,000,250
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Gcdh |
glutaryl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615
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Get3 |
guided entry of tail-anchored proteins factor 3, ATPase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,836,294...31,843,046
Ensembl chrNW_004955415:31,836,294...31,843,104
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Hook2 |
hook microtubule tethering protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,855,183...31,865,413
Ensembl chrNW_004955415:31,853,091...31,865,450
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Ier2 |
immediate early response 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:32,159,762...32,161,530
Ensembl chrNW_004955415:32,159,935...32,160,624
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Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,876,508...31,878,289
Ensembl chrNW_004955415:31,876,793...31,877,836
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Klf1 |
KLF transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,939,994...31,943,539
Ensembl chrNW_004955415:31,939,873...31,943,545
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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:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:32,121,808...32,124,730
Ensembl chrNW_004955415:32,121,808...32,124,730
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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:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,743,813...31,770,560
Ensembl chrNW_004955415:31,743,812...31,770,284
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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:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,907,660...31,935,769
Ensembl chrNW_004955415:31,907,630...31,939,762
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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:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:32,135,633...32,152,059
Ensembl chrNW_004955415:32,136,439...32,152,059
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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:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:32,055,926...32,121,611
Ensembl chrNW_004955415:32,055,375...32,117,833
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Prdx2 |
peroxiredoxin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,880,801...31,884,453
Ensembl chrNW_004955415:31,880,588...31,884,778
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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:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,991,478...31,997,277
Ensembl chrNW_004955415:31,991,479...32,000,250
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Rnaseh2a |
ribonuclease H2 subunit A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition |
OMIM ClinVar |
PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 PMID:16199547 PMID:16602100 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19486177 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25500883 PMID:25604658 PMID:25735478 PMID:25741868 PMID:26182405 PMID:26467025 PMID:27250579 PMID:27943079 PMID:28492532 PMID:28600779 PMID:28739201 PMID:29239743 PMID:31069529 PMID:31130284 PMID:31130681 PMID:31529068 PMID:33165593 PMID:33707687 PMID:35551623 PMID:36430958 PMID:37626525 More...
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NCBI chrNW_004955415:31,884,533...31,894,159
Ensembl chrNW_004955415:31,884,533...31,898,433
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Rtbdn |
retbindin |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,895,446...31,899,927
Ensembl chrNW_004955415:31,895,507...31,899,303
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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:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,957,244...31,969,922
Ensembl chrNW_004955415:31,957,489...31,969,859
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Tnpo2 |
transportin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,807,701...31,826,938
Ensembl chrNW_004955415:31,807,701...31,826,919
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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:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,831,093...31,834,796
Ensembl chrNW_004955415:31,831,093...31,834,796
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Trmt1 |
tRNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:32,126,630...32,136,770
Ensembl chrNW_004955415:32,126,444...32,135,516
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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:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,774,017...31,778,737
Ensembl chrNW_004955415:31,774,017...31,778,737
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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:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chrNW_004955415:31,772,401...31,773,916
Ensembl chrNW_004955415:31,772,401...31,773,916
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Blcap |
BLCAP apoptosis inducing factor |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955445:19,116,945...19,127,469
Ensembl chrNW_004955445:19,117,226...19,127,469
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Ctnnbl1 |
catenin beta like 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955445:18,809,389...18,975,858
Ensembl chrNW_004955445:18,809,023...18,976,255
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Ghrh |
growth hormone releasing hormone |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:24,481,246...24,490,529
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Manbal |
mannosidase beta like |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:24,429,672...24,457,679
Ensembl chrNW_004955422:24,429,608...24,455,870
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G |
Mroh8 |
maestro heat like repeat family member 8 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:24,549,990...24,612,899
Ensembl chrNW_004955422:24,550,217...24,613,050
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Nnat |
neuronatin |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955445:19,121,164...19,125,514
Ensembl chrNW_004955445:19,121,164...19,125,514
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G |
Rbl1 |
RB transcriptional corepressor like 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:24,620,068...24,695,203
Ensembl chrNW_004955422:24,620,078...24,695,229
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G |
Rpn2 |
ribophorin II |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:24,497,288...24,550,439
Ensembl chrNW_004955422:24,497,228...24,550,439
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G |
Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:21402907 PMID:22174685 PMID:22461318 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24300241 PMID:24316776 PMID:24989684 PMID:25604658 PMID:25640679 PMID:25741868 PMID:26273690 PMID:26431200 PMID:26467025 PMID:26504826 PMID:27604406 PMID:27643693 PMID:27943079 PMID:28229507 PMID:28454995 PMID:28492532 PMID:28851465 PMID:29239743 PMID:29379009 PMID:29758562 PMID:30275001 PMID:30487145 PMID:31130681 PMID:31797533 PMID:32371413 PMID:33683010 PMID:33857133 PMID:33967934 PMID:34492268 PMID:35590234 PMID:36311265 PMID:37152446 More...
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NCBI chrNW_004955422:24,714,103...24,780,672
Ensembl chrNW_004955422:24,735,161...24,778,830
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Src |
SRC proto-oncogene, non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955445:19,213,210...19,227,670
Ensembl chrNW_004955445:19,215,161...19,228,695
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G |
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 chrNW_004955422:24,781,476...24,795,112
Ensembl chrNW_004955422:24,781,806...24,793,625
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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:15489923 PMID:15955093 PMID:16817193 PMID:17576681 PMID:19017046 PMID:19060901 PMID:20301648 PMID:22974014 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25243380 PMID:25326637 PMID:25456137 PMID:25468572 PMID:25604658 PMID:25741868 PMID:25982145 PMID:26372505 PMID:26629815 PMID:26802932 PMID:26892242 PMID:27937139 PMID:28139822 PMID:28492532 PMID:28561207 PMID:29185800 PMID:29221912 PMID:29536976 PMID:29603717 PMID:29691679 PMID:29775506 PMID:29915444 PMID:30564185 PMID:30755392 PMID:31772029 PMID:32593192 PMID:32801363 PMID:32996714 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 PMID:34702576 PMID:35859177 More...
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NCBI chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938
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G |
Ifih1 |
interferon induced with helicase C domain 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:28008999 PMID:28319323 PMID:28475458 PMID:28492532 PMID:28605144 PMID:28716935 PMID:29018476 PMID:29782060 PMID:30219631 PMID:30593198 PMID:30965144 PMID:31178897 PMID:31898846 PMID:32853466 PMID:33440462 PMID:34185153 PMID:34539730 PMID:34975878 PMID:35086391 PMID:35754802 PMID:36703223 More...
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NCBI chrNW_004955449:11,538,869...11,596,502
Ensembl chrNW_004955449:11,538,889...11,593,349
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G |
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 chrNW_004955408:11,871,335...11,879,041
Ensembl chrNW_004955408:11,870,524...11,879,041
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G |
LOC102009926 |
chromosome unknown open reading frame, human C12orf57 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 |
ClinVar |
PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 |
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NCBI chrNW_004955413:4,524,236...4,525,760
Ensembl chrNW_004955413:4,524,236...4,525,760
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G |
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 chrNW_004955536:166,212...172,551
Ensembl chrNW_004955536:166,212...172,551
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G |
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 chrNW_004955536:189,881...229,835
Ensembl chrNW_004955536:190,949...232,424
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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 chrNW_004955409:8,270,657...8,288,201
Ensembl chrNW_004955409:8,271,164...8,287,096
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G |
Fnta |
farnesyltransferase, CAAX box, subunit alpha |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chrNW_004955457:13,260,825...13,294,025
Ensembl chrNW_004955457:13,260,545...13,294,025
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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 chrNW_004955457:13,149,013...13,249,524
Ensembl chrNW_004955457:13,149,013...13,249,321
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
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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 chrNW_004955457:13,093,914...13,148,800
Ensembl chrNW_004955457:13,096,483...13,147,637
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Slc20a2 |
solute carrier family 20 member 2 |
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ISO |
ClinVar Annotator: match by term: Ferrocalcinosis, cerebrovascular | ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition |
OMIM ClinVar |
PMID:10441584 PMID:11344012 PMID:11810290 PMID:15596772 PMID:16199547 PMID:18361429 PMID:20301594 PMID:20552677 PMID:22327515 PMID:23334463 PMID:23437308 PMID:24209445 PMID:24463626 PMID:25178512 PMID:25284758 PMID:25741868 PMID:26475232 PMID:27671522 PMID:27726124 PMID:27943094 PMID:28391956 PMID:28477710 PMID:28492532 PMID:29955172 PMID:30609140 PMID:30704756 PMID:31003906 PMID:31618668 PMID:32705272 PMID:33471268 PMID:34732400 PMID:36135330 More...
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NCBI chrNW_004955536:392,341...496,616
Ensembl chrNW_004955536:392,525...495,265
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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:25741868 PMID:27726124 |
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NCBI chrNW_004955536:380,062...384,608
Ensembl chrNW_004955536:377,517...387,978
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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 chrNW_004955457:13,077,015...13,088,406
Ensembl chrNW_004955457:13,072,697...13,088,406
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G |
Cmpk2 |
cytidine/uridine monophosphate kinase 2 |
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ISO |
ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE |
OMIM ClinVar |
PMID:36443312 |
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NCBI chrNW_004955487:2,010,126...2,024,804
Ensembl chrNW_004955487:2,010,228...2,029,175
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 |
OMIM ClinVar |
PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 PMID:23255827 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:31064749 PMID:34494111 PMID:39580648 More...
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NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 |
OMIM ClinVar |
PMID:20301594 PMID:21409505 PMID:23913003 PMID:25211641 PMID:25741868 PMID:26599395 PMID:29955172 More...
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NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
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G |
Xpr1 |
xenotropic and polytropic retrovirus receptor 1 |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related condition | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification |
OMIM ClinVar |
PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 |
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NCBI chrNW_004955406:19,831,398...19,980,994
Ensembl chrNW_004955406:19,797,245...19,974,911
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Myorg |
myogenesis regulating glycosidase (putative) |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 PMID:30649222 PMID:30656188 PMID:31009047 PMID:31440850 PMID:31951047 PMID:32211515 More...
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NCBI chrNW_004955472:1,735,292...1,740,304
Ensembl chrNW_004955472:1,735,292...1,740,304
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G |
Jam2 |
junctional adhesion molecule 2 |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive | ClinVar Annotator: match by term: JAM2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26136916 PMID:31851307 PMID:32142645 |
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NCBI chrNW_004955407:25,531,891...25,599,551
Ensembl chrNW_004955407:25,571,570...25,599,551
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G |
Naa60 |
N-alpha-acetyltransferase 60, NatF catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 9, autosomal recessive |
OMIM ClinVar |
PMID:38480682 |
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NCBI chrNW_004955442:13,895,248...13,926,152
Ensembl chrNW_004955442:13,895,248...13,918,723
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G |
Ifih1 |
interferon induced with helicase C domain 1 |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset | ClinVar Annotator: match by term: Cerebral calcification nonarteriosclerotic idiopathic childhood-onset |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955449:11,538,869...11,596,502
Ensembl chrNW_004955449:11,538,889...11,593,349
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G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,495,087...9,508,047
Ensembl chrNW_004955486:9,495,186...9,508,214
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,465,523...8,466,841
Ensembl chrNW_004955486:8,465,620...8,466,744
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,674,103...9,704,994
Ensembl chrNW_004955486:9,675,214...9,704,991
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,383,502...9,384,519
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,109,291...8,128,184
Ensembl chrNW_004955486:8,109,291...8,123,404
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G |
Aurkaip1 |
aurora kinase A interacting protein 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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,437,511...9,438,945
Ensembl chrNW_004955486:9,437,958...9,438,857
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G |
B3galt6 |
beta-1,3-galactosyltransferase 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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,553,765...9,555,675
Ensembl chrNW_004955486:9,554,435...9,555,459
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G |
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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,541,466...9,545,231
Ensembl chrNW_004955486:9,541,367...9,547,097
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G |
Ccdc27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:7,895,376...7,907,678
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G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,423,491...9,432,811
Ensembl chrNW_004955486:9,423,491...9,432,811
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,251,242...9,270,218
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:7,849,921...7,877,598
Ensembl chrNW_004955486:7,853,641...7,876,047
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Cfap74 |
cilia and flagella associated protein 74 |
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,056,836...9,107,572
Ensembl chrNW_004955486:9,057,030...9,107,600
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,475,520...9,478,925
Ensembl chrNW_004955486:9,475,520...9,478,925
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CUNH1orf159 |
chromosome unknown C1orf159 homolog |
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,632,940...9,659,682
Ensembl chrNW_004955486:9,638,645...9,659,682
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Dvl1 |
dishevelled segment polarity protein 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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,464,390...9,469,984
Ensembl chrNW_004955486:9,464,313...9,469,984
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,938,352...8,944,631
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,301,802...9,303,246
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,035,330...9,039,553
Ensembl chrNW_004955486:9,035,330...9,039,557
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,165,850...9,192,306
Ensembl chrNW_004955486:9,165,850...9,193,066
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,700,212...8,701,581
Ensembl chrNW_004955486:8,700,162...8,701,748
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,479,057...9,491,629
Ensembl chrNW_004955486:9,479,057...9,491,629
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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:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 PMID:21031596 PMID:22859821 PMID:24033266 PMID:25307056 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 PMID:32402279 More...
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NCBI chrNW_004955486:9,706,878...9,707,876
Ensembl chrNW_004955486:9,706,703...9,707,949
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,745,162...9,750,874
Ensembl chrNW_004955486:9,745,162...9,750,874
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:7,880,259...7,890,709
Ensembl chrNW_004955486:7,880,259...7,889,274
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,029,200...8,103,395
Ensembl chrNW_004955486:8,029,200...8,102,876
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,273,580...9,285,682
Ensembl chrNW_004955486:9,271,099...9,285,682
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Mmel1 |
membrane metalloendopeptidase 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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,635,727...8,662,793
Ensembl chrNW_004955486:8,638,233...8,663,053
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Mmp23b |
matrix metallopeptidase 23B |
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,270,588...9,272,310
Ensembl chrNW_004955486:9,270,484...9,272,420
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,802,800...8,850,635
Ensembl chrNW_004955486:8,802,975...8,850,445
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,417,925...9,420,789
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,452,707...9,456,640
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,191,923...9,217,547
Ensembl chrNW_004955486:9,191,923...9,217,538
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,750,969...9,763,622
Ensembl chrNW_004955486:9,751,053...9,767,104
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Pank4 |
pantothenate kinase 4 (inactive) |
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,703,236...8,716,017
Ensembl chrNW_004955486:8,702,909...8,716,377
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,717,799...8,785,144
Ensembl chrNW_004955486:8,718,155...8,775,228
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,736,801...9,744,659
Ensembl chrNW_004955486:9,737,365...9,744,111
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,139,848...8,327,788
Ensembl chrNW_004955486:8,137,531...8,327,977
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,947,579...9,021,702
Ensembl chrNW_004955486:8,947,579...9,021,702
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,663,708...8,666,369
Ensembl chrNW_004955486:8,663,595...8,666,469
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,491,613...9,494,746
Ensembl chrNW_004955486:9,491,506...9,494,520
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,791,457...8,802,691
Ensembl chrNW_004955486:8,791,457...8,802,691
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,658,706...9,665,467
Ensembl chrNW_004955486:9,662,186...9,665,467
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,763,704...9,781,132
Ensembl chrNW_004955486:9,763,725...9,779,197
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Scnn1d |
sodium channel epithelial 1 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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,508,435...9,514,107
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,555,773...9,565,310
Ensembl chrNW_004955486:9,555,364...9,567,340
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,857,693...8,921,821
Ensembl chrNW_004955486:8,857,693...8,921,821
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:7,889,510...7,895,281
Ensembl chrNW_004955486:7,889,510...7,894,567
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,317,078...9,338,414
Ensembl chrNW_004955486:9,317,078...9,338,414
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,469,954...9,475,421
Ensembl chrNW_004955486:9,470,626...9,473,780
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,339,489...9,344,025
Ensembl chrNW_004955486:9,339,479...9,344,025
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,107,254...9,111,006
Ensembl chrNW_004955486:9,109,431...9,110,668
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,376,707...9,379,315
Ensembl chrNW_004955486:9,376,707...9,379,315
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G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,670,182...8,684,677
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G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,571,527...9,573,733
Ensembl chrNW_004955486:9,571,530...9,573,733
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,565,424...9,569,836
Ensembl chrNW_004955486:9,567,220...9,569,676
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Tp73 |
tumor protein p73 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:7,914,608...7,961,992
Ensembl chrNW_004955486:7,914,440...7,952,982
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,007,678...8,013,996
Ensembl chrNW_004955486:8,007,842...8,013,910
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G |
Ttc34 |
tetratricopeptide repeat domain 34 |
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:8,620,609...8,633,069
Ensembl chrNW_004955486:8,620,516...8,631,399
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G |
Ttll10 |
tubulin tyrosine ligase like 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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,576,174...9,589,297
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G |
Ube2j2 |
ubiquitin conjugating enzyme E2 J2 |
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,519,467...9,539,666
Ensembl chrNW_004955486:9,524,459...9,540,562
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G |
Vwa1 |
von Willebrand factor A domain 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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:9,365,920...9,369,117
Ensembl chrNW_004955486:9,366,796...9,369,115
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G |
Wrap73 |
WD repeat containing, antisense to TP73 |
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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:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004955486:7,992,684...8,006,121
Ensembl chrNW_004955486:7,992,015...8,006,115
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