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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 chr12:46,235,327...46,243,153
Ensembl chr12:46,240,208...46,242,352
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G |
PDGFRB |
platelet derived growth factor receptor beta |
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ISO |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234
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G |
SLC20A2 |
solute carrier family 20 member 2 |
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ISO |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chr 8:40,413,070...40,535,002
Ensembl chr 8:40,412,958...40,469,896
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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 chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329
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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 chr22:9,849,439...9,869,654
Ensembl chr22:9,849,570...9,869,553
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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 chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264
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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 chr 1:8,528,097...8,544,512
Ensembl chr 1:8,526,788...8,544,972
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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 chr 6:11,493,752...11,501,167
Ensembl chr 6:11,493,764...11,501,363
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G |
RNASEH2B |
ribonuclease H2 subunit B |
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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:26046366 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:27654912 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 chr 3:28,791,490...28,856,542
Ensembl chr 3:28,791,748...28,841,733
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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 chr 1:8,526,761...8,535,984
Ensembl chr 1:8,526,788...8,528,027
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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 chr 2:57,641,634...57,699,685
Ensembl chr 2:57,639,046...57,699,525
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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 chr 2:57,629,205...57,640,736
Ensembl chr 2:57,627,764...57,640,177
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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 chr22:9,869,502...9,871,659
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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 chr22:11,111,871...11,115,104
Ensembl chr22:11,112,953...11,114,467
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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 chr22:10,813,601...10,820,628
Ensembl chr22:10,814,358...10,819,632
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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 chr22:11,067,966...11,078,258
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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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G |
ATRIP |
ATR interacting protein |
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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 chr22:9,849,439...9,869,654
Ensembl chr22:9,849,570...9,869,553
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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 chr22:10,953,901...11,066,892
Ensembl chr22:11,018,966...11,059,701
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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 chr22:11,264,349...11,276,616
Ensembl chr22:11,263,584...11,276,543
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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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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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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 chr22:10,046,361...10,073,689
Ensembl chr22:10,045,900...10,072,395
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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 chr22:10,579,771...10,594,148
Ensembl chr22:10,579,776...10,593,388
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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 chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
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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 chr22:10,660,873...10,672,712
Ensembl chr22:10,666,310...10,671,639
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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 chr22:10,864,058...10,934,179
Ensembl chr22:10,865,724...10,934,200
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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 chr22:10,415,833...10,419,492
Ensembl chr22:10,411,353...10,419,770
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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 chr 9:14,929,221...14,974,791
Ensembl chr 9:14,929,317...14,965,443
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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 chr22:11,116,497...11,118,980
Ensembl chr22:11,116,752...11,118,926
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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 chr22:11,623,394...11,646,464
Ensembl chr22:11,623,408...11,647,191
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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 chr22:11,577,192...11,582,789
Ensembl chr22:11,577,997...11,581,223
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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 chr22:10,754,976...10,756,617
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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 chr22:11,689,123...11,693,144
Ensembl chr22:11,688,970...11,693,183
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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 chr22:11,680,189...11,688,678
Ensembl chr22:11,679,585...11,682,972
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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 chr22:11,675,094...11,679,953
Ensembl chr22:11,675,542...11,679,843
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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 chr22:10,593,516...10,653,519
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G |
IMPDH2 |
inosine monophosphate dehydrogenase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:10,424,646...10,429,917
Ensembl chr22:10,421,996...10,429,662
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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 chr22:11,206,066...11,208,653
Ensembl chr22:11,206,914...11,209,867
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G |
IP6K1 |
inositol hexakisphosphate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:11,119,315...11,187,512
Ensembl chr22:11,119,313...11,146,192
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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 chr22:10,097,730...10,121,325
Ensembl chr22:10,097,746...10,121,840
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G |
KLHDC8B |
kelch domain containing 8B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:10,573,720...10,578,629
Ensembl chr22:10,574,769...10,578,674
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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 chr22:10,523,763...10,535,733
Ensembl chr22:10,523,717...10,536,207
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G |
LOC103227611 |
ARIH2 opposite strand lncRNA |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:10,318,252...10,319,365
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G |
LSMEM2 |
leucine rich single-pass membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:11,666,171...11,675,465
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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 chr22:11,315,251...11,334,295
Ensembl chr22:11,315,396...11,333,991
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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 chr22:11,078,662...11,083,885
Ensembl chr22:11,074,114...11,083,368
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G |
MST1R |
macrophage stimulating 1 receptor |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:11,293,637...11,310,239
Ensembl chr22:11,293,263...11,309,980
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G |
NAA80 |
N-alpha-acetyltransferase 80, NatH catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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G |
NCKIPSD |
NCK interacting protein with SH3 domain |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:10,083,042...10,095,654
Ensembl chr22:10,081,218...10,095,566
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G |
NDUFAF3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:10,421,359...10,423,626
Ensembl chr22:10,421,996...10,423,510
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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 chr22:10,821,663...10,825,405
Ensembl chr22:10,820,757...10,825,462
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G |
P4HTM |
prolyl 4-hydroxylase, transmembrane |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:10,387,828...10,407,476
Ensembl chr22:10,388,932...10,407,507
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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 chr22:9,920,252...9,962,243
Ensembl chr22:9,919,764...9,957,543
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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 chr22:10,153,951...10,251,438
Ensembl chr22:10,150,378...10,251,397
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G |
QARS1 |
glutaminyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:10,497,921...10,507,673
Ensembl chr22:10,497,658...10,507,325
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G |
QRICH1 |
glutamine rich 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:10,430,015...10,496,127
Ensembl chr22:10,430,774...10,478,690
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G |
RBM5 |
RNA binding motif protein 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:11,473,623...11,505,251
Ensembl chr22:11,473,494...11,507,096
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G |
RBM6 |
RNA binding motif protein 6 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:11,343,260...11,462,390
Ensembl chr22:11,343,214...11,461,504
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G |
RHOA |
ras homolog family member A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:10,757,381...10,809,257
Ensembl chr22:10,757,337...10,772,704
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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 chr 3:28,791,490...28,856,542
Ensembl chr 3:28,791,748...28,841,733
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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 |
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NCBI chr22:11,084,216...11,116,527
Ensembl chr22:11,085,808...11,116,287
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G |
SEMA3B |
semaphorin 3B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:11,652,766...11,664,902
Ensembl chr22:11,656,918...11,665,418
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G |
SEMA3F |
semaphorin 3F |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:11,540,958...11,574,888
Ensembl chr22:11,545,455...11,575,006
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G |
SHISA5 |
shisa family member 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:9,871,882...9,905,733
Ensembl chr22:9,873,019...9,905,308
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G |
SLC25A20 |
solute carrier family 25 member 20 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:10,261,772...10,300,878
Ensembl chr22:10,261,634...10,300,778
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G |
SLC26A6 |
solute carrier family 26 member 6 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:10,035,676...10,046,274
Ensembl chr22:10,035,478...10,045,304
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G |
SLC38A3 |
solute carrier family 38 member 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:11,591,680...11,606,291
Ensembl chr22:11,591,717...11,606,355
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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 |
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NCBI chr22:10,809,342...10,813,655
Ensembl chr22:10,809,595...10,812,029
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G |
TMEM89 |
transmembrane protein 89 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:10,029,176...10,030,420
Ensembl chr22:10,029,181...10,030,078
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G |
TRAIP |
TRAF interacting protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:11,220,152...11,262,942
Ensembl chr22:11,233,996...11,262,830
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G |
TREX1 |
three prime repair exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant |
ClinVar OMIM |
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 chr22:9,869,502...9,871,659
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G |
UBA7 |
ubiquitin like modifier activating enzyme 7 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:11,208,744...11,217,834
Ensembl chr22:11,207,417...11,217,734
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G |
UCN2 |
urocortin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:9,962,339...9,964,553
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G |
UQCRC1 |
ubiquinol-cytochrome c reductase core protein I |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr22:10,000,432...10,012,524
Ensembl chr22:10,000,864...10,012,202
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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 |
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NCBI chr22:10,510,554...10,523,576
Ensembl chr22:10,510,423...10,523,487
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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 |
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NCBI chr22:10,672,920...10,735,374
Ensembl chr22:10,672,388...10,732,104
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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 |
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NCBI chr22:10,407,421...10,416,295
Ensembl chr22:10,407,703...10,415,633
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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:26046366 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26846091 PMID:26860721 PMID:26903602 PMID:27009121 PMID:27654912 PMID:27943079 PMID:28332073 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:29720203 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:35551623 PMID:36775013 PMID:37296061 More...
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NCBI chr 3:28,791,490...28,856,542
Ensembl chr 3:28,791,748...28,841,733
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G |
ACTN3 |
actinin alpha 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:7,708,595...7,724,634
Ensembl chr 1:7,705,725...7,724,589
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G |
ACY3 |
aminoacylase 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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Ensembl chr 1:6,623,588...6,628,304
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G |
AIP |
AHR interacting HSP90 co-chaperone |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:6,774,648...6,783,095
Ensembl chr 1:6,773,364...6,783,318
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G |
ALDH3B1 |
aldehyde dehydrogenase 3 family member B1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:6,507,668...6,533,630
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G |
ALDH3B2 |
aldehyde dehydrogenase 3 family member B2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:6,594,240...6,607,230
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G |
ANKRD13D |
ankyrin repeat domain 13D |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:6,960,539...6,972,456
Ensembl chr 1:6,960,389...6,971,727
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G |
ANO1 |
anoctamin 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:4,373,256...4,581,914
Ensembl chr 1:4,373,252...4,490,557
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G |
AP5B1 |
adaptor related protein complex 5 subunit beta 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 chr 1:8,484,076...8,487,635
Ensembl chr 1:8,484,328...8,487,402
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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 chr 1:7,929,712...7,932,034
Ensembl chr 1:7,929,862...7,932,086
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G |
BANF1 |
barrier to autointegration nuclear assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:8,254,186...8,255,571
Ensembl chr 1:8,253,884...8,255,572
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G |
BBS1 |
Bardet-Biedl syndrome 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:7,737,887...7,765,022
Ensembl chr 1:7,737,578...7,764,732
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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 chr 1:7,932,276...7,940,144
Ensembl chr 1:7,932,316...7,940,143
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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 chr 1:6,741,202...6,744,931
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G |
CABP4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:6,804,761...6,810,277
Ensembl chr 1:6,805,193...6,808,456
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G |
CAPN1 |
calpain 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:9,014,087...9,050,389
Ensembl chr 1:9,014,084...9,049,804
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G |
CARNS1 |
carnosine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:6,838,960...6,849,542
Ensembl chr 1:6,839,950...6,847,124
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G |
CATSPER1 |
cation channel sperm associated 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:8,231,436...8,241,189
Ensembl chr 1:8,231,915...8,241,048
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G |
CCDC85B |
coiled-coil domain containing 85B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:8,366,166...8,367,670
Ensembl chr 1:8,366,409...8,367,017
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G |
CCDC87 |
coiled-coil domain containing 87 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:7,686,514...7,689,390
Ensembl chr 1:7,686,575...7,689,061
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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 chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
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G |
CCS |
copper chaperone for superoxide dismutase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:7,670,137...7,686,389
Ensembl chr 1:7,667,873...7,686,428
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G |
CD248 |
CD248 molecule |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:7,958,583...7,961,159
Ensembl chr 1:7,958,616...7,960,889
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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 chr 1:8,914,214...8,921,031
Ensembl chr 1:8,914,787...8,915,437
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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 chr 1:6,756,853...6,759,087
Ensembl chr 1:6,756,909...6,759,090
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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 chr 1:8,408,560...8,410,564
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G |
CHKA |
choline kinase alpha |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:6,411,606...6,482,508
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G |
CLCF1 |
cardiotrophin like cytokine factor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:6,890,751...6,900,370
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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 chr 1:7,982,685...7,988,834
Ensembl chr 1:7,982,700...7,988,753
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G |
CORO1B |
coronin 1B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:6,820,298...6,825,778
Ensembl chr 1:6,820,807...6,825,451
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G |
CPT1A |
carnitine palmitoyltransferase 1A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:5,704,275...5,784,077
Ensembl chr 1:5,730,853...5,784,337
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G |
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 chr 1:8,244,483...8,246,551
Ensembl chr 1:8,244,485...8,245,968
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G |
CTSF |
cathepsin F |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:7,703,584...7,708,709
Ensembl chr 1:7,703,617...7,711,717
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G |
CTSW |
cathepsin W |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:8,374,426...8,378,496
Ensembl chr 1:8,369,620...8,378,578
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G |
CUNH11orf24 |
chromosome unknown C11orf24 homolog |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:6,261,118...6,272,953
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G |
CUNH11orf68 |
chromosome unknown C11orf68 homolog |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:8,338,524...8,340,838
Ensembl chr 1:8,338,593...8,340,841
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G |
CUNH11orf86 |
chromosome unknown C11orf86 homolog |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:7,286,315...7,288,261
Ensembl chr 1:7,287,073...7,287,964
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G |
DPF2 |
double PHD fingers 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,888,534...8,908,446
Ensembl chr 1:8,886,710...8,908,522
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G |
DPP3 |
dipeptidyl peptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:7,766,110...7,797,152
Ensembl chr 1:7,766,160...7,795,302
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G |
DRAP1 |
DR1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,336,085...8,338,393
Ensembl chr 1:8,335,949...8,338,446
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G |
EFEMP2 |
EGF containing fibulin extracellular matrix protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 1:8,384,212...8,391,501
Ensembl chr 1:8,385,020...8,390,889
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G |
EHBP1L1 |
EH domain binding protein 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 1:8,648,318...8,664,990
Ensembl chr 1:8,648,641...8,664,759
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G |
EIF1AD |
eukaryotic translation initiation factor 1A domain containing |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,255,904...8,259,278
Ensembl chr 1:8,255,378...8,259,104
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G |
FADD |
Fas associated via death domain |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:4,358,314...4,361,863
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G |
FAM89B |
family with sequence similarity 89 member B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 1:8,666,812...8,669,128
Ensembl chr 1:8,667,370...8,668,320
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G |
FGF19 |
fibroblast growth factor 19 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:4,852,289...4,860,139
Ensembl chr 1:4,854,363...4,859,102
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G |
FGF3 |
fibroblast growth factor 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:4,746,195...4,755,654
Ensembl chr 1:4,746,696...4,754,924
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G |
FGF4 |
fibroblast growth factor 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:4,786,296...4,791,441
Ensembl chr 1:4,789,203...4,791,036
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G |
FIBP |
FGF1 intracellular binding protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:8,369,279...8,374,246
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G |
FOSL1 |
FOS like 1, AP-1 transcription factor subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,356,263...8,365,606
Ensembl chr 1:8,356,836...8,364,918
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G |
FRMD8 |
FERM domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,824,966...8,853,292
Ensembl chr 1:8,827,122...8,852,792
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G |
GAL |
galanin and GMAP prepropeptide |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:5,849,947...5,857,355
Ensembl chr 1:5,849,952...5,857,072
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G |
GAL3ST3 |
galactose-3-O-sulfotransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,210,003...8,217,503
Ensembl chr 1:8,214,007...8,217,477
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G |
GPR152 |
G protein-coupled receptor 152 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:6,810,791...6,814,497
Ensembl chr 1:6,811,146...6,812,555
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G |
GRK2 |
G protein-coupled receptor kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:6,975,202...6,995,369
Ensembl chr 1:6,975,002...6,995,259
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G |
GSTP1 |
glutathione S-transferase pi 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:6,676,897...6,679,936
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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 chr 1:5,619,138...5,655,033
Ensembl chr 1:5,619,425...5,655,737
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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 chr 1:8,528,097...8,544,512
Ensembl chr 1:8,526,788...8,544,972
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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 chr 1:8,644,038...8,648,132
Ensembl chr 1:8,645,231...8,647,963
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G |
KDM2A |
lysine demethylase 2A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:7,004,109...7,152,072
Ensembl chr 1:7,003,784...7,082,720
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G |
KLC2 |
kinesin light chain 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:7,999,113...8,009,543
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G |
KMT5B |
lysine methyltransferase 5B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:6,308,565...6,367,272
Ensembl chr 1:6,308,742...6,367,393
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G |
LOC103221203 |
RNA-binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:7,604,440...7,638,536
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G |
LOC103221444 |
RNA-binding protein 4B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:7,594,565...7,607,824
Ensembl chr 1:7,594,677...7,604,199
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G |
LRFN4 |
leucine rich repeat and fibronectin type III domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:7,406,502...7,409,707
Ensembl chr 1:7,402,779...7,409,959
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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 chr 1:6,090,048...6,224,956
Ensembl chr 1:6,089,930...6,190,383
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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 |
|
NCBI chr 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740
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G |
LTO1 |
LTO1 maturation factor of ABCE1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:4,888,769...4,900,379
Ensembl chr 1:4,889,155...4,897,348
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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 |
|
NCBI chr 1:8,625,431...8,639,049
Ensembl chr 1:8,625,961...8,638,924
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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 chr 1:5,591,179...5,593,796
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G |
MRGPRF |
MAS related GPR family member F |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:5,559,186...5,569,839
Ensembl chr 1:5,563,977...5,568,959
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G |
MRPL11 |
mitochondrial ribosomal protein L11 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:7,844,554...7,847,201
Ensembl chr 1:7,844,474...7,847,476
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G |
MRPL21 |
mitochondrial ribosomal protein L21 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:5,655,043...5,667,452
Ensembl chr 1:5,654,387...5,669,290
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G |
MUS81 |
MUS81 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 1:8,410,571...8,411,793
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G |
MYEOV |
myeloma overexpressed |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:5,268,229...5,269,105
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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 |
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NCBI chr 1:6,499,371...6,505,685
Ensembl chr 1:6,499,249...6,505,699
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G |
NDUFV1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:6,650,547...6,656,185
Ensembl chr 1:6,648,520...6,656,172
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G |
NPAS4 |
neuronal PAS domain protein 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:7,856,222...7,874,812
Ensembl chr 1:7,856,939...7,862,052
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G |
NUDT8 |
nudix hydrolase 8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:6,641,316...6,643,353
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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 chr 1:8,470,065...8,480,406
Ensembl chr 1:8,470,029...8,478,626
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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 chr 1:8,023,496...8,188,192
Ensembl chr 1:8,022,906...8,188,171
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G |
PC |
pyruvate carboxylase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:7,310,738...7,418,357
Ensembl chr 1:7,357,246...7,417,998
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G |
PCNX3 |
pecanex 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 1:8,601,944...8,625,289
Ensembl chr 1:8,601,805...8,624,394
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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 |
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NCBI chr 1:7,800,430...7,811,226
Ensembl chr 1:7,799,182...7,811,208
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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 chr 1:6,760,208...6,774,006
Ensembl chr 1:6,761,369...6,775,983
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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 chr 1:8,940,102...8,977,049
Ensembl chr 1:8,938,769...8,976,771
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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 |
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NCBI chr 1:6,910,044...6,912,134
Ensembl chr 1:6,910,159...6,911,813
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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 chr 1:6,862,536...6,866,212
Ensembl chr 1:6,862,540...6,865,855
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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 |
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NCBI chr 1:5,920,097...6,073,847
Ensembl chr 1:5,919,226...6,074,037
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G |
PTPRCAP |
protein tyrosine phosphatase receptor type C associated protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:6,825,821...6,828,305
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G |
RAB1B |
RAB1B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:7,989,521...7,998,371
Ensembl chr 1:7,989,101...7,998,105
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G |
RAD9A |
RAD9 checkpoint clamp component A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:6,865,990...6,945,179
Ensembl chr 1:6,866,840...6,941,486
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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 chr 1:7,420,221...7,526,495
Ensembl chr 1:7,420,653...7,423,265
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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 |
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NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
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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 chr 1:7,196,999...7,215,239
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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 chr 1:7,940,856...7,945,419
Ensembl chr 1:7,941,082...7,945,206
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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:33353557 PMID:34008892 PMID:34055681 PMID:34302356 PMID:36585007 PMID:36836134 PMID:37092250 More...
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NCBI chr 1:8,526,761...8,535,984
Ensembl chr 1:8,526,788...8,528,027
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G |
RPS6KB2 |
ribosomal protein S6 kinase B2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:6,828,413...6,836,176
Ensembl chr 1:6,828,682...6,836,143
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G |
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 |
|
NCBI chr 1:8,279,821...8,296,282
Ensembl chr 1:8,275,123...8,296,245
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G |
SCYL1 |
SCY1 like pseudokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,700,828...8,714,571
Ensembl chr 1:8,700,973...8,714,763
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G |
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 chr 1:8,189,636...8,207,024
Ensembl chr 1:8,189,446...8,207,020
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G |
SIPA1 |
signal-induced proliferation-associated 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 1:8,588,221...8,601,310
Ensembl chr 1:8,586,685...8,598,455
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G |
SLC25A45 |
solute carrier family 25 member 45 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:8,857,346...8,865,517
Ensembl chr 1:8,856,977...8,865,358
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G |
SLC29A2 |
solute carrier family 29 member 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:7,904,813...7,914,344
Ensembl chr 1:7,905,297...7,917,309
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G |
SNX32 |
sorting nexin 32 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 1:8,394,618...8,426,155
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G |
SPTBN2 |
spectrin beta, non-erythrocytic 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:7,543,035...7,588,125
Ensembl chr 1:7,556,953...7,590,720
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G |
SSH3 |
slingshot protein phosphatase 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:6,951,130...6,960,445
Ensembl chr 1:6,951,139...6,959,441
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G |
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 chr 1:7,222,090...7,248,406
Ensembl chr 1:7,221,220...7,248,489
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G |
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 chr 1:6,854,259...6,860,709
Ensembl chr 1:6,854,236...6,860,481
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G |
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 chr 1:6,623,195...6,640,000
Ensembl chr 1:6,623,588...6,628,304
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G |
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 chr 1:6,484,469...6,497,008
Ensembl chr 1:6,484,474...6,494,719
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G |
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 chr 1:5,788,231...5,834,900
Ensembl chr 1:5,789,096...5,834,873
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G |
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 chr 1:8,883,893...8,886,685
Ensembl chr 1:8,884,276...8,885,691
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G |
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 chr 1:6,794,195...6,799,206
Ensembl chr 1:6,794,294...6,798,941
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G |
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 chr 1:7,970,012...7,974,954
Ensembl chr 1:7,971,134...7,974,764
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G |
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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G |
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 chr 1:5,491,476...5,529,015
Ensembl chr 1:5,490,910...5,528,718
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G |
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 chr 1:8,297,479...8,314,162
Ensembl chr 1:8,298,065...8,313,905
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G |
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 chr 1:6,537,198...6,549,457
Ensembl chr 1:6,537,273...6,549,450
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G |
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 chr 1:7,977,690...7,982,313
Ensembl chr 1:7,977,867...7,984,211
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G |
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 chr 1:7,725,246...7,732,848
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G |
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 chr 1:8,669,227...8,670,594
Ensembl chr 1:8,666,769...8,670,527
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G |
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 chr 6:11,438,981...11,447,952
Ensembl chr 6:11,441,380...11,448,629
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G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID: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 chr 6:11,883,353...12,307,023
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G |
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 chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792
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G |
DAND5 |
DAN domain BMP antagonist family member 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID: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 chr 6:11,648,881...11,652,815
Ensembl chr 6:11,649,331...11,652,567
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G |
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 chr 6:11,364,192...11,370,485
Ensembl chr 6:11,362,752...11,370,370
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G |
DNASE2 |
deoxyribonuclease 2, lysosomal |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID: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 chr 6:11,557,034...11,570,117
Ensembl chr 6:11,553,904...11,570,244
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G |
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 chr 6:11,602,352...11,613,851
Ensembl chr 6:11,600,516...11,613,345
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G |
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 chr 6:11,376,476...11,384,600
Ensembl chr 6:11,374,898...11,384,361
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G |
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 chr 6:11,634,435...11,637,462
Ensembl chr 6:11,632,641...11,637,419
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G |
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 chr 6:11,572,512...11,588,108
Ensembl chr 6:11,572,540...11,588,224
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G |
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 chr 6:11,426,857...11,437,343
Ensembl chr 6:11,426,787...11,437,119
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G |
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 chr 6:11,452,154...11,464,718
Ensembl chr 6:11,449,026...11,464,622
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G |
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 chr 6:11,834,998...11,838,421
Ensembl chr 6:11,836,706...11,837,377
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G |
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 chr 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450
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G |
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 chr 6:11,563,773...11,566,615
Ensembl chr 6:11,564,235...11,566,495
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G |
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 chr 6:11,778,634...11,785,474
Ensembl chr 6:11,780,766...11,782,618
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G |
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 chr 6:11,334,639...11,355,391
Ensembl chr 6:11,334,752...11,355,334
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G |
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 chr 6:11,516,337...11,555,940
Ensembl chr 6:11,520,813...11,557,680
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G |
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 chr 6:11,800,219...11,825,232
Ensembl chr 6:11,818,968...11,825,412
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G |
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 chr 6:11,705,323...11,778,943
Ensembl chr 6:11,706,060...11,776,083
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G |
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 chr 6:11,484,452...11,489,067
Ensembl chr 6:11,481,784...11,489,051
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G |
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 chr 6:11,625,464...11,633,922
Ensembl chr 6:11,625,458...11,637,419
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G |
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:31325311 PMID:31529068 PMID:33165593 PMID:33353557 PMID:33707687 PMID:35551623 PMID:36430958 PMID:37626525 More...
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NCBI chr 6:11,493,752...11,501,167
Ensembl chr 6:11,493,764...11,501,363
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G |
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 chr 6:11,508,417...11,524,011
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G |
STX10 |
syntaxin 10 |
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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 chr 6:11,827,745...11,833,916
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G |
SYCE2 |
synaptonemal complex central element protein 2 |
|
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 chr 6:11,581,915...11,599,770
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G |
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 chr 6:11,387,993...11,414,681
Ensembl chr 6:11,387,683...11,414,709
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G |
TRIR |
telomerase RNA component interacting RNase |
|
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 chr 6:11,419,982...11,424,075
Ensembl chr 6:11,419,938...11,424,062
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G |
TRMT1 |
tRNA methyltransferase 1 |
|
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 chr 6:11,786,279...11,799,270
Ensembl chr 6:11,785,730...11,799,730
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G |
WDR83 |
WD repeat domain 83 |
|
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 chr 6:11,358,172...11,364,301
Ensembl chr 6:11,358,254...11,364,147
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G |
WDR83OS |
WD repeat domain 83 opposite strand |
|
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 chr 6:11,356,542...11,358,109
Ensembl chr 6:11,356,544...11,357,884
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G |
BLCAP |
BLCAP apoptosis inducing factor |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:26,225,572...26,236,065
Ensembl chr 2:26,234,308...26,234,568
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G |
CTNNBL1 |
catenin beta like 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:25,877,750...26,055,283
Ensembl chr 2:25,877,700...26,055,209
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G |
GHRH |
growth hormone releasing hormone |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:26,482,734...26,493,761
Ensembl chr 2:26,487,973...26,493,499
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G |
LOC103246453 |
retinoblastoma-like protein 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:26,593,657...26,601,041
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G |
MANBAL |
mannosidase beta like |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:26,434,145...26,461,769
Ensembl chr 2:26,434,986...26,449,818
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G |
MROH8 |
maestro heat like repeat family member 8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:26,563,075...26,587,815
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G |
NNAT |
neuronatin |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:26,229,765...26,232,249
Ensembl chr 2:26,230,696...26,232,127
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G |
RPN2 |
ribophorin II |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:26,503,344...26,563,958
Ensembl chr 2:26,503,597...26,564,142
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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 chr 2:57,641,634...57,699,685
Ensembl chr 2:57,639,046...57,699,525
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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 chr 2:26,344,480...26,367,448
Ensembl chr 2:26,343,450...26,367,776
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TLDC2 |
TBC/LysM-associated domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:57,629,205...57,640,736
Ensembl chr 2:57,627,764...57,640,177
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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 chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329
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IFIH1 |
interferon induced with helicase C domain 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | 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 chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264
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LSM11 |
LSM11, U7 small nuclear RNA associated |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 |
OMIM ClinVar |
PMID:33230297 |
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NCBI chr23:60,151,661...60,166,074
Ensembl chr23:60,152,784...60,164,483
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CUNH12orf57 |
chromosome unknown C12orf57 homolog |
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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 chr11:6,974,741...6,976,922
Ensembl chr11:6,974,953...6,976,921
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CHRNA6 |
cholinergic receptor nicotinic alpha 6 subunit |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr 8:40,750,839...40,767,010
Ensembl chr 8:40,751,375...40,766,236
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CHRNB3 |
cholinergic receptor nicotinic beta 3 subunit |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr 8:40,695,061...40,730,127
Ensembl chr 8:40,706,666...40,728,963
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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 chr26:38,090,053...38,110,781
Ensembl chr26:38,090,648...38,109,636
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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 chr 8:41,057,798...41,088,210
Ensembl chr 8:41,057,603...41,087,705
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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 chr 8:40,897,108...41,023,068
Ensembl chr 8:40,897,209...41,021,808
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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 chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395
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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 chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234
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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 chr 8:40,852,995...40,896,800
Ensembl chr 8:40,850,552...40,896,887
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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 chr 8:40,413,070...40,535,002
Ensembl chr 8:40,412,958...40,469,896
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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 chr 8:40,534,621...40,546,232
Ensembl chr 8:40,534,910...40,546,647
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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 chr 8:40,833,488...40,840,748
Ensembl chr 8:40,830,790...40,840,462
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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 chr14:100,804,295...100,820,565
Ensembl chr14:100,804,400...100,819,027
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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 chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234
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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 chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395
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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 chr25:48,509,854...48,756,479
Ensembl chr25:48,517,525...48,756,458
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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 chr12:46,235,327...46,243,153
Ensembl chr12:46,240,208...46,242,352
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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 chr 2:66,557,271...66,635,937
Ensembl chr 2:66,559,820...66,635,339
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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 |
ClinVar OMIM |
PMID:38480682 |
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NCBI chr 5:3,144,307...3,184,108
Ensembl chr 5:3,173,475...3,181,996
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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 chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264
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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 chr20:130,143,085...130,157,716
Ensembl chr20:130,143,520...130,157,730
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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 chr20:128,660,029...128,665,485
Ensembl chr20:128,660,121...128,661,254
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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 chr20:130,383,226...130,416,926
Ensembl chr20:130,383,220...130,416,933
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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 chr20:130,036,072...130,042,036
Ensembl chr20:130,036,658...130,038,604
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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 chr20:128,204,517...128,229,866
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ATAD3A |
ATPase family AAA domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr20:129,965,964...129,987,866
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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 chr20:130,074,660...130,076,355
Ensembl chr20:130,075,295...130,076,765
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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 chr20:130,210,828...130,212,732
Ensembl chr20:130,211,718...130,212,707
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C1QTNF12 |
C1q and TNF related 12 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr20:130,195,746...130,204,338
Ensembl chr20:130,198,005...130,202,441
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CALML6 |
calmodulin like 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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CCDC27 |
coiled-coil domain containing 27 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr20:127,905,251...127,927,086
Ensembl chr20:127,905,375...127,926,913
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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 chr20:127,823,789...127,866,172
Ensembl chr20:127,828,995...127,865,544
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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 chr20:129,555,060...129,626,465
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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 chr20:130,124,705...130,128,745
Ensembl chr20:130,125,790...130,126,711
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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 chr20:130,325,767...130,357,331
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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 chr20:130,105,032...130,118,978
Ensembl chr20:130,104,639...130,117,139
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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 chr20:129,357,043...129,373,409
Ensembl chr20:129,357,089...129,362,518
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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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G |
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 chr20:129,530,049...129,541,437
Ensembl chr20:129,529,108...129,541,580
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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 chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667
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HES4 |
hes family bHLH transcription 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 chr20:130,433,355...130,438,589
Ensembl chr20:130,435,291...130,436,213
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G |
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 chr20:129,023,750...129,028,790
Ensembl chr20:129,027,370...129,028,065
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G |
INTS11 |
integrator complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr20:130,128,828...130,139,580
Ensembl chr20:130,128,828...130,142,330
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G |
ISG15 |
ISG15 ubiquitin like modifier |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
OMIM ClinVar |
PMID: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 chr20:130,419,909...130,421,409
Ensembl chr20:130,419,782...130,421,380
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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 chr20:130,467,286...130,472,384
Ensembl chr20:130,467,261...130,471,904
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LOC103225737 |
multiple epidermal growth factor-like domains protein 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 chr20:128,075,329...128,195,618
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LOC103225750 |
membrane metallo-endopeptidase-like 1 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr20:128,916,051...128,963,545
Ensembl chr20:128,921,369...128,963,188
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LOC103225783 |
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 chr20:129,848,297...129,873,287
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LOC103225792 |
ATPase family AAA domain containing 3C |
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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 chr20:129,997,941...130,008,356
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LOC103225798 |
cyclin-L2 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr20:130,049,590...130,065,241
Ensembl chr20:130,049,646...130,065,881
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LOC103225805 |
taste receptor type 1 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 chr20:130,119,451...130,122,920
Ensembl chr20:130,119,804...130,122,903
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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 chr20:127,881,446...127,896,138
Ensembl chr20:127,881,473...127,895,959
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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 chr20:129,878,014...129,893,239
Ensembl chr20:129,877,142...129,884,894
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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 chr20:129,873,838...129,876,521
Ensembl chr20:129,873,867...129,876,524
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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 chr20:129,163,876...129,231,520
Ensembl chr20:129,169,893...129,231,604
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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 chr20:130,042,502...130,047,019
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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 chr20:130,092,280...130,102,819
Ensembl chr20:130,096,289...130,104,551
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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 chr20:129,770,575...129,800,914
Ensembl chr20:129,769,822...129,803,817
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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 chr20:130,473,526...130,488,570
Ensembl chr20:130,473,547...130,490,907
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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 chr20:129,030,853...129,050,944
Ensembl chr20:129,030,904...129,050,636
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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 chr20:129,145,587...129,155,687
Ensembl chr20:129,145,638...129,153,968
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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 chr20:129,053,571...129,127,238
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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 chr20:130,456,993...130,467,189
Ensembl chr20:130,458,267...130,466,472
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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 chr20:128,249,894...128,613,842
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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 chr20:129,367,309...129,502,681
Ensembl chr20:129,365,679...129,485,818
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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 chr20:128,964,750...128,969,469
Ensembl chr20:128,964,987...128,967,620
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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 chr20:130,139,479...130,142,819
Ensembl chr20:130,139,480...130,142,342
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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 chr20:129,155,902...129,169,648
Ensembl chr20:129,156,067...129,169,597
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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 chr20:130,359,448...130,365,430
Ensembl chr20:130,364,349...130,365,098
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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 chr20:130,488,810...130,510,621
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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 chr20:130,158,282...130,169,479
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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 chr20:130,212,962...130,228,831
Ensembl chr20:130,216,225...130,228,962
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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 chr20:129,243,033...129,324,162
Ensembl chr20:129,242,445...129,324,138
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SLC35E2B |
solute carrier family 35 member E2B |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr20:129,808,281...129,843,006
Ensembl chr20:129,824,956...129,846,114
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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 chr20:127,900,506...127,904,242
Ensembl chr20:127,900,976...127,903,371
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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 chr20:129,922,992...129,958,551
Ensembl chr20:129,923,091...129,958,712
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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 chr20:129,959,081...129,965,352
Ensembl chr20:129,959,462...129,965,375
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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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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 chr20:130,028,526...130,031,739
Ensembl chr20:130,026,134...130,030,985
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TNFRSF14 |
TNF receptor superfamily member 14 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr20:128,992,572...128,999,829
Ensembl chr20:128,992,489...129,000,338
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TNFRSF18 |
TNF receptor superfamily member 18 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr20:130,237,950...130,243,303
Ensembl chr20:130,225,847...130,242,251
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TNFRSF4 |
TNF receptor superfamily member 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 chr20:130,231,064...130,234,525
Ensembl chr20:130,231,584...130,234,313
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TP73 |
tumor protein p73 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691
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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 chr20:128,057,629...128,062,545
Ensembl chr20:128,059,137...128,062,455
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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 chr20:130,247,309...130,270,452
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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 chr20:130,174,207...130,192,723
Ensembl chr20:130,174,223...130,195,150
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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 chr20:130,016,802...130,023,138
Ensembl chr20:130,014,754...130,021,822
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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 chr20:128,037,727...128,056,981
Ensembl chr20:128,037,821...128,056,770
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