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G |
MYORG |
myogenesis regulating glycosidase |
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ISO |
OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chr10:32,436,349...32,443,971
Ensembl chr10:32,436,656...32,443,968
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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 chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
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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 chr17:11,435,435...11,549,623
Ensembl chr17:11,435,442...11,486,581
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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 chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,357...95,197,304
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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 chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
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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 chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
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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 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466
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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 2:66,192,785...66,208,417
Ensembl chr 2:66,193,197...66,207,697
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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 chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969
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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 2:6,563,093...6,564,281
Ensembl chr 2:6,563,091...6,564,274
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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 chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878
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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 chr17:40,105,500...40,118,743
Ensembl chr17:40,109,210...40,120,399
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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 chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
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G |
USP18 |
ubiquitin specific peptidase 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,229,572
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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 chr13:31,995,600...32,002,514
Ensembl chr13:31,995,595...32,002,470
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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 chr13:32,205,863...32,214,517
Ensembl chr13:32,205,609...32,214,518
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G |
ARIH2 |
ariadne RBR E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:31,570,026...31,623,833
Ensembl chr13:31,570,088...31,625,226
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G |
ARIH2OS |
ARIH2 opposite strand lncRNA |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:31,569,765...31,570,548
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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 chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
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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 chr13:32,106,967...32,203,461
Ensembl chr13:32,159,630...32,195,578
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G |
C13H3orf62 |
chromosome 13 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 chr13:31,840,281...31,848,825
Ensembl chr13:31,845,055...31,848,482
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G |
C13H3orf84 |
chromosome 13 C3orf84 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 chr13:31,780,619...31,790,704
Ensembl chr13:31,780,277...31,792,782
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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 chr13:32,381,122...32,401,480
Ensembl chr13:32,381,128...32,392,987
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G |
CCDC71 |
coiled-coil domain containing 71 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:31,763,802...31,771,260
Ensembl chr13:31,767,495...31,771,218
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G |
CDHR4 |
cadherin related family member 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:32,322,030...32,329,530
Ensembl chr13:32,322,034...32,329,337
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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 chr13:31,331,563...31,357,374
Ensembl chr13:31,331,574...31,357,469
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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 chr13:31,262,750...31,295,112
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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 chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450
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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 chr13:31,650,880...31,656,320
Ensembl chr13:31,650,967...31,656,306
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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 chr10:46,820,016...46,863,848
Ensembl chr10:46,820,053...46,868,028
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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 chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155 Ensembl chr13:32,248,268...32,253,155
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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 chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794
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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 chr13:32,671,377...32,678,394
Ensembl chr13:32,671,432...32,678,391
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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 chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
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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 chr13:32,798,135...32,800,705
Ensembl chr13:32,797,681...32,800,793
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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 chr13:32,793,784...32,794,650
Ensembl chr13:32,793,572...32,794,700
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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 chr13:32,790,843...32,796,995
Ensembl chr13:32,790,850...32,796,563
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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 chr13:32,756,671...32,790,763
Ensembl chr13:32,756,680...32,790,672
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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 chr13:31,802,963...31,836,911
Ensembl chr13:31,802,948...31,837,912
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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 chr13:31,658,642...31,663,660
Ensembl chr13:31,658,650...31,663,552
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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 chr13:31,663,812...31,714,523
Ensembl chr13:31,658,642...31,714,455
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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 chr13:32,329,872...32,332,167
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G |
IP6K1 |
inositol hexakisphosphate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:32,253,515...32,320,005
Ensembl chr13:32,253,515...32,319,988
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G |
IP6K2 |
inositol hexakisphosphate kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:31,379,516...31,406,989
Ensembl chr13:31,379,521...31,406,911
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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 chr13:31,775,339...31,780,483
Ensembl chr13:31,775,694...31,780,484
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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 chr13:31,738,282...31,750,623
Ensembl chr13:31,738,286...31,750,833
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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 chr13:32,752,515...32,757,042
Ensembl chr13:32,753,199...32,757,034
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G |
MIR191 |
microRNA mir-191 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:31,655,484...31,655,563
Ensembl chr13:31,655,484...31,655,563
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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 chr13:32,426,733...32,437,735
Ensembl chr13:32,426,736...32,437,862
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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 chr13:32,214,934...32,220,045
Ensembl chr13:32,214,937...32,219,902
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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 chr13:32,401,623...32,423,614
Ensembl chr13:32,409,555...32,421,920
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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 chr13:31,366,574...31,377,684
Ensembl chr13:31,363,765...31,377,672
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G |
NDUFAF3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:31,656,941...31,658,087
Ensembl chr13:31,656,948...31,659,220
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G |
NICN1 |
nicolin 1, tubulin polyglutamylase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:32,002,658...32,007,266
Ensembl chr13:32,002,660...32,007,217
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G |
P4HTM |
prolyl 4-hydroxylase, transmembrane |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:31,627,230...31,642,251
Ensembl chr13:31,627,225...31,642,399
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G |
PFKFB4 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:31,212,553...31,259,785
Ensembl chr13:31,212,552...31,259,749
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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 chr13:31,427,786...31,517,005
Ensembl chr13:31,426,213...31,517,122
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G |
QARS1 |
glutaminyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:31,715,686...31,723,200
Ensembl chr13:31,715,689...31,723,197
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G |
RBM5 |
RNA binding motif protein 5 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:32,579,780...32,612,716
Ensembl chr13:32,579,983...32,612,710
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G |
RBM6 |
RNA binding motif protein 6 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:32,444,944...32,569,818
Ensembl chr13:32,444,963...32,569,815
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G |
RHOA |
ras homolog family member A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607
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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 chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969
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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 chr13:32,216,761...32,250,742
Ensembl chr13:32,218,384...32,250,739
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G |
SEMA3B |
semaphorin 3B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr13:32,737,100...32,749,633
Ensembl chr13:32,740,802...32,749,621
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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 chr13:32,641,376...32,671,231
Ensembl chr13:32,641,424...32,671,223
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G |
SHISA5 |
shisa family member 5 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:31,180,844...31,205,724
Ensembl chr13:31,180,846...31,205,731
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G |
SLC25A20 |
solute carrier family 25 member 20 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr13:31,523,820...31,553,289
Ensembl chr13:31,523,821...31,553,286
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G |
SLC26A6 |
solute carrier family 26 member 6 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:31,319,287...31,330,649
Ensembl chr13:31,317,877...31,330,580
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G |
SLC38A3 |
solute carrier family 38 member 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr13:32,683,131...32,699,803
Ensembl chr13:32,683,126...32,704,535
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G |
TCTA |
T cell leukemia translocation altered |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr13:31,991,408...31,995,274
Ensembl chr13:31,991,610...31,998,129
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G |
TMEM89 |
transmembrane protein 89 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr13:31,315,148...31,316,849
Ensembl chr13:31,315,737...31,316,740
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|
G |
TRAIP |
TRAF interacting protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr13:32,332,336...32,380,988
Ensembl chr13:32,345,599...32,379,766
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G |
TREX1 |
three prime repair exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant |
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 chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
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G |
UBA7 |
ubiquitin like modifier activating enzyme 7 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr13:32,330,536...32,341,300
Ensembl chr13:32,332,367...32,341,217
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G |
UCN2 |
urocortin 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr13:31,261,196...31,261,824
Ensembl chr13:31,261,196...31,261,534
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G |
UQCRC1 |
ubiquinol-cytochrome c reductase core protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr13:31,298,449...31,308,719
Ensembl chr13:31,298,449...31,309,516
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|
G |
USP19 |
ubiquitin specific peptidase 19 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr13:31,726,668...31,738,135
Ensembl chr13:31,726,672...31,737,981
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G |
USP4 |
ubiquitin specific peptidase 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr13:31,844,780...31,904,418
Ensembl chr13:31,848,851...31,904,243
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G |
WDR6 |
WD repeat domain 6 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr13:31,642,207...31,651,367
Ensembl chr13:31,642,325...31,651,361
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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 chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969
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G |
ACTN3 |
actinin alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:5,860,386...5,873,779
Ensembl chr 2:5,860,391...5,874,124
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G |
ACY3 |
aminoacylase 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:4,932,836...4,938,249
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G |
AIP |
aryl hydrocarbon receptor interacting protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,042,883...5,048,885
Ensembl chr 2:5,041,990...5,048,781
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G |
ALDH3B1 |
aldehyde dehydrogenase 3 family member B1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:4,868,561...4,889,179
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G |
ANKRD13D |
ankyrin repeat domain 13D |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,194,010...5,207,057
Ensembl chr 2:5,193,153...5,206,993
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G |
ANO1 |
anoctamin 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:3,202,269...3,373,409
Ensembl chr 2:3,202,166...3,373,411
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G |
AP5B1 |
adaptor related protein complex 5 subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 2:6,538,784...6,551,337
Ensembl chr 2:6,547,998...6,553,761
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G |
B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,508...6,045,817
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G |
BANF1 |
BAF nuclear assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:6,333,451...6,335,326
Ensembl chr 2:6,333,453...6,334,839
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G |
BBS1 |
Bardet-Biedl syndrome 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:5,886,989...5,906,468
Ensembl chr 2:5,886,990...5,906,388
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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 |
|
NCBI chr 2:6,046,077...6,053,672
Ensembl chr 2:6,046,098...6,053,667
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G |
C2H11orf24 |
chromosome 2 C11orf24 homolog |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:4,682,204...4,692,016
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G |
C2H11orf68 |
chromosome 2 C11orf68 homolog |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:6,411,946...6,414,286
Ensembl chr 2:6,411,833...6,414,280
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G |
C2H11orf86 |
chromosome 2 C11orf86 homolog |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,466,633...5,469,128
Ensembl chr 2:5,467,059...5,469,209
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G |
CABP2 |
calcium binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,014,888...5,020,705
Ensembl chr 2:5,014,810...5,020,775
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G |
CABP4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,068,535...5,079,482
Ensembl chr 2:5,068,037...5,072,188
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G |
CAPN1 |
calpain 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,985...7,022,684
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G |
CARNS1 |
carnosine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,097,238...5,105,697
Ensembl chr 2:5,097,243...5,105,696
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G |
CATSPER1 |
cation channel sperm associated 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:6,312,906...6,321,690
Ensembl chr 2:6,312,906...6,321,690
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G |
CCDC85B |
coiled-coil domain containing 85B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:6,436,787...6,437,828
Ensembl chr 2:6,436,794...6,437,808
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G |
CCDC87 |
coiled-coil domain containing 87 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,833,431...5,838,922
Ensembl chr 2:5,833,464...5,836,686
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G |
CCND1 |
cyclin D1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
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G |
CCS |
copper chaperone for superoxide dismutase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,819,471...5,833,263
Ensembl chr 2:5,819,472...5,836,064
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G |
CD248 |
CD248 molecule |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:6,070,885...6,073,518
Ensembl chr 2:6,070,910...6,073,509
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G |
CDC42EP2 |
CDC42 effector protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:6,897,497...6,904,040
Ensembl chr 2:6,895,847...6,904,040
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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 |
|
NCBI chr 2:5,025,256...5,027,766
Ensembl chr 2:5,025,600...5,027,764
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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 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035
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G |
CHKA |
choline kinase alpha |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:4,788,508...4,846,667
Ensembl chr 2:4,788,213...4,846,665
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G |
CLCF1 |
cardiotrophin like cytokine factor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,142,315...5,152,750
Ensembl chr 2:5,143,313...5,152,692
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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 |
|
NCBI chr 2:6,102,347...6,109,424
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G |
CORO1B |
coronin 1B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,081,294...5,086,698
Ensembl chr 2:5,080,660...5,086,690
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G |
CPT1A |
carnitine palmitoyltransferase 1A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,911
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G |
CST6 |
cystatin E/M |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:6,323,737...6,325,519
Ensembl chr 2:6,323,740...6,325,415
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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 2:5,855,083...5,860,258
Ensembl chr 2:5,855,111...5,860,251
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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 2:6,446,105...6,450,357
Ensembl chr 2:6,446,105...6,450,360
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G |
DPF2 |
double PHD fingers 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:6,870,331...6,886,548
Ensembl chr 2:6,870,332...6,886,467
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G |
DPP3 |
dipeptidyl peptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:5,907,251...5,948,019
Ensembl chr 2:5,907,252...5,946,734
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G |
DRAP1 |
DR1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:6,409,623...6,411,935
Ensembl chr 2:6,409,655...6,412,395
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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 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486
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G |
EHBP1L1 |
EH domain binding protein 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 2:6,662,460...6,678,721
Ensembl chr 2:6,662,463...6,678,888
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G |
EIF1AD |
eukaryotic translation initiation factor 1A domain containing |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:6,334,882...6,340,125
Ensembl chr 2:6,334,197...6,340,112
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G |
FADD |
Fas associated via death domain |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
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G |
FAM89B |
family with sequence similarity 89 member B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 2:6,680,832...6,682,506
Ensembl chr 2:6,681,490...6,682,511
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G |
FGF19 |
fibroblast growth factor 19 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:3,583,027...3,586,985
Ensembl chr 2:3,582,828...3,587,752
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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 2:3,489,208...3,496,532
Ensembl chr 2:3,489,009...3,497,533
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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 2:3,527,113...3,529,011
Ensembl chr 2:3,526,914...3,529,874
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G |
FIBP |
FGF1 intracellular binding protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:6,440,483...6,445,927
Ensembl chr 2:6,440,390...6,445,927
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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 2:6,430,158...6,436,173
Ensembl chr 2:6,430,153...6,436,173
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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 2:6,822,964...6,843,941
Ensembl chr 2:6,822,967...6,843,470
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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 2:4,351,113...4,357,167
Ensembl chr 2:4,351,113...4,356,647
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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 2:6,297,797...6,306,200
Ensembl chr 2:6,297,855...6,306,198
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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 2:5,074,079...5,077,503
Ensembl chr 2:5,075,236...5,076,651
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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 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758
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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 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525
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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 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466
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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 |
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NCBI chr 2:6,657,841...6,662,445
Ensembl chr 2:6,659,054...6,662,288
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G |
KDM2A |
lysine demethylase 2A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:5,238,690...5,357,799
Ensembl chr 2:5,240,312...5,357,829
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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 2:6,117,236...6,127,048
Ensembl chr 2:6,116,429...6,126,951
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G |
KMT5B |
lysine methyltransferase 5B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:4,710,510...4,768,237
Ensembl chr 2:4,711,023...4,765,979
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G |
LOC100522421 |
aldehyde dehydrogenase family 3 member B2-like |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:4,910,123...4,928,559
Ensembl chr 2:4,920,068...4,928,554
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G |
LOC100739508 |
glutathione S-transferase P-like |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,005,498...5,009,247
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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 2:5,576,625...5,579,397
Ensembl chr 2:5,576,622...5,580,009
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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 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944
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G |
LTBP3 |
latent transforming growth factor beta binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153
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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 2:3,607,605...3,615,621
Ensembl chr 2:3,607,600...3,615,616
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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 2:6,640,061...6,657,717
Ensembl chr 2:6,640,056...6,657,713
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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 2:4,123,786...4,132,938
Ensembl chr 2:4,123,829...4,132,938
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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 2:5,978,470...5,981,449
Ensembl chr 2:5,978,483...5,981,449
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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 |
|
NCBI chr 2:6,462,825...6,470,780
Ensembl chr 2:6,463,413...6,469,112
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G |
NDUFS8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:4,863,295...4,867,392
Ensembl chr 2:4,862,589...4,867,393
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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 2:4,958,508...4,964,211
Ensembl chr 2:4,958,522...4,964,216
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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 2:5,990,936...5,995,940
Ensembl chr 2:5,990,327...5,995,929
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G |
NUDT8 |
nudix hydrolase 8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:4,948,808...4,952,538
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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 2:6,526,679...6,538,992
Ensembl chr 2:6,526,671...6,538,921
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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 2:6,138,345...6,277,309
Ensembl chr 2:6,138,351...6,174,632
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G |
PC |
pyruvate carboxylase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,566,608...5,587,797
Ensembl chr 2:5,518,517...5,587,797
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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 2:6,619,213...6,639,933
Ensembl chr 2:6,619,215...6,639,953
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G |
PELI3 |
pellino E3 ubiquitin protein ligase family member 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,950,552...5,959,786
Ensembl chr 2:5,948,849...5,959,734
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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 2:5,028,889...5,042,302
Ensembl chr 2:5,028,935...5,044,295
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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 2:6,922,384...6,950,289
Ensembl chr 2:6,922,387...6,950,179
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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 2:5,160,906...5,162,753
Ensembl chr 2:5,160,955...5,164,266
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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 2:5,120,202...5,123,168
Ensembl chr 2:5,119,939...5,123,617
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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 2:4,394,670...4,523,421
Ensembl chr 2:4,394,675...4,523,411
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G |
PTPRCAP |
protein tyrosine phosphatase receptor type C associated protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:5,087,203...5,089,359
Ensembl chr 2:5,087,256...5,089,359
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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 2:6,110,438...6,116,443
Ensembl chr 2:6,102,354...6,116,221
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G |
RAD9A |
RAD9 checkpoint clamp component A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:5,123,142...5,129,740
Ensembl chr 2:5,123,134...5,129,703
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G |
RBM14 |
RNA binding motif protein 14 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:5,776,535...5,784,337
Ensembl chr 2:5,776,539...5,784,337
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G |
RBM14 |
RNA binding motif protein 14 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:5,791,445...5,800,784
Ensembl chr 2:5,759,098...5,800,748
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G |
RBM4B |
RNA binding motif protein 4B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:5,745,364...5,758,177
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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 2:5,587,853...5,595,408
Ensembl chr 2:5,588,546...5,593,142
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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 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
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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 2:5,392,546...5,404,214
Ensembl chr 2:5,392,547...5,404,339
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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 2:6,053,875...6,061,051
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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 2:6,563,093...6,564,281
Ensembl chr 2:6,563,091...6,564,274
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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 2:5,089,466...5,095,591
Ensembl chr 2:5,089,471...5,095,575
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G |
SART1 |
spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:6,355,690...6,373,342
Ensembl chr 2:6,354,908...6,373,272
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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 2:6,720,047...6,733,477
Ensembl chr 2:6,716,115...6,733,438
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G |
SF3B2 |
splicing factor 3b subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,049...6,294,639
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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 |
|
NCBI chr 2:6,606,613...6,618,556
Ensembl chr 2:6,606,626...6,618,566
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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 2:6,851,101...6,857,886
Ensembl chr 2:6,851,617...6,857,880
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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 2:6,027,287...6,036,280
Ensembl chr 2:6,027,287...6,036,280
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G |
SNX32 |
sorting nexin 32 |
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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 2:6,474,788...6,488,738
Ensembl chr 2:6,475,024...6,488,657
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G |
SPTBN2 |
spectrin beta, non-erythrocytic 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:5,683,414...5,739,418
Ensembl chr 2:5,695,836...5,739,415
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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 2:5,185,480...5,193,875
Ensembl chr 2:5,185,503...5,193,155
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G |
SYT12 |
synaptotagmin 12 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:5,410,605...5,434,492
Ensembl chr 2:5,410,627...5,433,926
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G |
TBC1D10C |
TBC1 domain family member 10C |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:5,112,462...5,118,829
Ensembl chr 2:5,112,467...5,121,061
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G |
TBX10 |
T-box transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:4,945,381...4,948,117
Ensembl chr 2:4,941,136...4,948,781
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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 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498
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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 2:4,296,855...4,340,970
Ensembl chr 2:4,297,952...4,340,968
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G |
TIGD3 |
tigger transposable element derived 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:6,865,008...6,867,940
Ensembl chr 2:6,865,374...6,866,789
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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 2:5,057,244...5,063,266
Ensembl chr 2:5,057,322...5,063,725
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G |
TMEM151A |
transmembrane protein 151A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:6,090,535...6,095,499
Ensembl chr 2:6,090,543...6,095,352
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G |
TOP6BL |
TOP6B like initiator of meiotic double strand breaks |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:5,593,245...5,699,263
Ensembl chr 2:5,593,245...5,697,799
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G |
TPCN2 |
two pore segment channel 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:4,069,267...4,105,065
Ensembl chr 2:4,069,280...4,105,042
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G |
TSGA10IP |
testis specific 10 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:6,374,617...6,391,457
Ensembl chr 2:6,374,617...6,387,718
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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 2:4,898,414...4,909,833
Ensembl chr 2:4,898,409...4,909,856
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G |
YIF1A |
Yip1 interacting factor homolog A, membrane trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:6,097,749...6,101,965
Ensembl chr 2:6,095,877...6,102,037
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G |
ZDHHC24 |
zinc finger DHHC-type containing 24 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:5,874,509...5,883,525
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G |
ZNRD2 |
zinc ribbon domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 2:6,680,832...6,684,564
Ensembl chr 2:6,683,057...6,684,494
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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 2:66,242,820...66,248,908
Ensembl chr 2:66,242,999...66,248,784
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G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
|
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 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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G |
CALR |
calreticulin |
|
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 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132
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G |
DAND5 |
DAN domain BMP antagonist family member 5 |
|
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 2:66,068,722...66,073,537
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G |
DHPS |
deoxyhypusine synthase |
|
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 2:66,303,375...66,307,773
Ensembl chr 2:66,303,370...66,307,769
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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 2:66,150,071...66,152,857
Ensembl chr 2:66,149,862...66,152,855
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G |
FARSA |
phenylalanyl-tRNA synthetase subunit alpha |
|
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 2:66,105,393...66,114,867
Ensembl chr 2:66,105,429...66,118,191
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G |
FBXW9 |
F-box and WD repeat domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID: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 2:66,290,847...66,297,215
Ensembl chr 2:66,291,172...66,297,213
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G |
GADD45GIP1 |
GADD45G interacting protein 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 2:66,087,421...66,089,578
Ensembl chr 2:66,087,453...66,090,710
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G |
GCDH |
glutaryl-CoA dehydrogenase |
|
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 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
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G |
GET3 |
guided entry of tail-anchored proteins factor 3, ATPase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID: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 2:66,251,381...66,261,135
Ensembl chr 2:66,251,432...66,260,958
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G |
HOOK2 |
hook microtubule tethering 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 2:66,227,562...66,239,671
Ensembl chr 2:66,227,601...66,244,828
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G |
IER2 |
immediate early response 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 2:65,909,638...65,912,491
Ensembl chr 2:65,909,651...65,912,445
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G |
JUNB |
JunB proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID: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 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002
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G |
KLF1 |
KLF transcription factor 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 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517
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G |
LYL1 |
LYL1 basic helix-loop-helix family member |
|
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 2:65,950,608...65,956,423
Ensembl chr 2:65,952,519...65,955,011
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G |
MAN2B1 |
mannosidase alpha class 2B member 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 2:66,329,051...66,347,051
Ensembl chr 2:66,329,045...66,348,056
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G |
MAST1 |
microtubule associated serine/threonine kinase 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 2:66,153,109...66,184,303
Ensembl chr 2:66,153,115...66,184,289
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G |
NACC1 |
nucleus accumbens associated 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 2:65,920,352...65,938,840
Ensembl chr 2:65,922,126...65,938,759
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G |
NFIX |
nuclear factor I X |
|
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 2:65,954,808...66,056,591
Ensembl chr 2:65,954,811...66,056,567
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G |
PRDX2 |
peroxiredoxin 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 2:66,207,829...66,211,474
Ensembl chr 2:66,207,828...66,212,009
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G |
RAD23A |
RAD23 homolog A, nucleotide excision repair protein |
|
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 2:66,090,089...66,096,477
Ensembl chr 2:66,084,668...66,096,329
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G |
RNASEH2A |
ribonuclease H2 subunit A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition |
OMIM ClinVar |
PMID:9536098 PMID: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 2:66,192,785...66,208,417
Ensembl chr 2:66,193,197...66,207,697
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G |
RTBDN |
retbindin |
|
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 2:66,188,077...66,191,434
Ensembl chr 2:66,188,089...66,193,654
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G |
STX10 |
syntaxin 10 |
|
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 2:65,914,132...65,917,075
Ensembl chr 2:65,914,127...65,917,070
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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 2:66,118,439...66,133,454
Ensembl chr 2:66,128,492...66,131,963
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G |
TNPO2 |
transportin 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 2:66,267,776...66,288,763
Ensembl chr 2:66,271,496...66,288,264
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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 2:66,262,377...66,265,427
Ensembl chr 2:66,262,424...66,265,426
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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 2:65,940,122...65,949,324
Ensembl chr 2:65,940,125...65,949,324
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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 2:66,307,652...66,312,839
Ensembl chr 2:66,307,653...66,312,844
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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 2:66,312,920...66,328,000
Ensembl chr 2:66,325,992...66,328,004
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G |
BLCAP |
BLCAP apoptosis inducing factor |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr17:40,603,977...40,633,613
Ensembl chr17:40,624,844...40,625,107
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G |
CTNNBL1 |
catenin beta like 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr17:40,809,932...40,948,844
Ensembl chr17:40,774,720...40,949,022
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G |
GHRH |
growth hormone releasing hormone |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr17:40,386,725...40,398,312
Ensembl chr17:40,387,344...40,397,857
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G |
MANBAL |
mannosidase beta like |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr17:40,420,745...40,449,657
|
|
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 chr17:40,289,934...40,303,899
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G |
NNAT |
neuronatin |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr17:40,625,990...40,629,523
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G |
RBL1 |
RB transcriptional corepressor like 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr17:40,201,214...40,279,318
Ensembl chr17:40,194,950...40,279,156
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G |
RPN2 |
ribophorin II |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr17:40,322,364...40,378,866
Ensembl chr17:40,322,368...40,378,858
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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 chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878
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G |
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 chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860
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G |
TLDC2 |
TBC/LysM-associated domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr17:40,105,500...40,118,743
Ensembl chr17:40,109,210...40,120,399
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G |
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 chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,357...95,197,304
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G |
IFIH1 |
interferon induced with helicase C domain 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:28008999 PMID:28319323 PMID:28475458 PMID:28492532 PMID:28605144 PMID:28716935 PMID:29018476 PMID:29782060 PMID:30219631 PMID:30593198 PMID:30965144 PMID:31178897 PMID:31898846 PMID:32853466 PMID:33440462 PMID:34185153 PMID:34539730 PMID:34975878 PMID:35086391 PMID:35754802 PMID:36703223 More...
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NCBI chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
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G |
LSM11 |
LSM11, U7 small nuclear RNA associated |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 |
OMIM ClinVar |
PMID:33230297 |
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NCBI chr16:65,587,502...65,600,605
Ensembl chr16:65,590,120...65,600,566
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G |
C5H12orf57 |
chromosome 5 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 chr 5:63,779,510...63,781,307
Ensembl chr 5:63,779,513...63,781,517
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G |
CHRNA6 |
cholinergic receptor nicotinic alpha 6 subunit |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr17:11,725,880...11,739,949
Ensembl chr17:11,725,880...11,739,747
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G |
CHRNB3 |
cholinergic receptor nicotinic beta 3 subunit |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr17:11,687,646...11,714,357
Ensembl chr17:11,687,557...11,722,183
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G |
DUOX2 |
dual oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
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NCBI chr 1:126,620,468...126,641,406
Ensembl chr 1:126,620,510...126,641,406
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G |
FNTA |
farnesyltransferase, CAAX box, subunit alpha |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr17:11,928,327...11,953,139
Ensembl chr17:11,928,358...11,951,684
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G |
HOOK3 |
hook microtubule tethering protein 3 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr17:11,817,963...11,919,152
Ensembl chr17:11,818,031...11,923,196
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G |
PDGFB |
platelet derived growth factor subunit B |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:25741868 |
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Ensembl chr 5:8,986,462...9,007,435
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G |
PDGFRB |
platelet derived growth factor receptor beta |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
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G |
RNF170 |
ring finger protein 170 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr17:11,777,942...11,817,920
Ensembl chr17:11,780,129...11,816,049
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G |
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 chr17:11,435,435...11,549,623
Ensembl chr17:11,435,442...11,486,581
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G |
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 chr17:11,549,907...11,566,898
Ensembl chr17:11,549,937...11,566,898
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G |
THAP1 |
THAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr17:11,765,383...11,773,321
Ensembl chr17:11,765,149...11,772,620
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G |
CMPK2 |
cytidine/uridine monophosphate kinase 2 |
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ISO |
ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE |
OMIM ClinVar |
PMID:36443312 |
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NCBI chr 3:128,903,395...128,917,873
Ensembl chr 3:128,903,616...128,917,871
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G |
PDGFRB |
platelet derived growth factor receptor beta |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 |
OMIM ClinVar |
PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 PMID:23255827 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:31064749 PMID:34494111 PMID:39580648 More...
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NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
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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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Ensembl chr 5:8,986,462...9,007,435
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G |
XPR1 |
xenotropic and polytropic retrovirus receptor 1 |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related condition | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification |
OMIM ClinVar |
PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 |
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NCBI chr 9:122,237,954...122,461,669
Ensembl chr 9:122,237,957...122,458,171
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G |
MYORG |
myogenesis regulating glycosidase |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | 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 chr10:32,436,349...32,443,971
Ensembl chr10:32,436,656...32,443,968
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G |
JAM2 |
junctional adhesion molecule 2 |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive | ClinVar Annotator: match by term: JAM2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26136916 PMID:31851307 PMID:32142645 |
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NCBI chr13:189,199,789...189,275,843
Ensembl chr13:189,165,975...189,275,839
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G |
NAA60 |
N-alpha-acetyltransferase 60, NatF catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 9, autosomal recessive |
ClinVar OMIM |
PMID:38480682 |
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NCBI chr 3:38,763,444...38,812,862
Ensembl chr 3:38,763,447...38,781,988
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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 chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
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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 chr 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435
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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 chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774
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G |
AGRN |
agrin |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309
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G |
ANKRD65 |
ankyrin repeat domain 65 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,678,757...63,686,409
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G |
ARHGEF16 |
Rho guanine nucleotide exchange factor 16 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:65,026,490...65,048,545
Ensembl chr 6:65,027,442...65,048,542
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G |
AURKAIP1 |
aurora kinase A interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472
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G |
B3GALT6 |
beta-1,3-galactosyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112
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G |
C1QTNF12 |
C1q and TNF related 12 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332
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G |
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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NCBI chr 6:63,970,359...63,971,973
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G |
CCDC27 |
coiled-coil domain containing 27 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:65,242,725...65,254,879
Ensembl chr 6:65,242,602...65,255,727
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G |
CCNL2 |
cyclin L2 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047
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G |
CDK11 |
cyclin dependent kinase 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 chr 6:63,804,914...63,819,960
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G |
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 chr 6:65,274,092...65,310,735
Ensembl chr 6:65,274,488...65,310,669
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G |
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 chr 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562
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G |
CPTP |
ceramide-1-phosphate transfer protein |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,607,991...63,612,325
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G |
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 chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913
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G |
FAAP20 |
FA core complex associated protein 20 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:64,160,760...64,169,663
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G |
FNDC10 |
fibronectin type III domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483
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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 chr 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640
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G |
GNB1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505
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G |
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 chr 6:63,351,593...63,356,690
Ensembl chr 6:63,351,602...63,356,466
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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 chr 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881
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INTS11 |
integrator complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921
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ISG15 |
ISG15 ubiquitin like modifier |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
OMIM ClinVar |
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 PMID:21031596 PMID:22859821 PMID:24033266 PMID:25307056 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 PMID:32402279 More...
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NCBI chr 6:63,363,201...63,364,211
Ensembl chr 6:63,363,173...63,364,208
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G |
KLHL17 |
kelch like family member 17 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,320,898...63,328,093
Ensembl chr 6:63,322,184...63,328,259
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G |
LOC100525876 |
ATPase family AAA domain-containing protein 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 chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573
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G |
LOC100624218 |
MORN repeat-containing 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 chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897
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G |
LRRC47 |
leucine rich repeat containing 47 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:65,261,990...65,271,745
Ensembl chr 6:65,260,793...65,271,729
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G |
MEGF6 |
multiple EGF like domains 6 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:65,055,533...65,141,449
Ensembl chr 6:65,053,389...65,141,380
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G |
MIB2 |
MIB E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423
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G |
MMEL1 |
membrane metalloendopeptidase like 1 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759
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G |
MMP23 |
matrix metallopeptidase 23 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046
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G |
MRPL20 |
mitochondrial ribosomal protein L20 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839
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G |
MXRA8 |
matrix remodeling associated 8 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456
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G |
NADK |
NAD kinase |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946
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G |
NOC2L |
NOC2 like nucleolar associated transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,307,703...63,320,799
Ensembl chr 6:63,307,695...63,335,201
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G |
PANK4 |
pantothenate kinase 4 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448
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G |
PEX10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:64,311,743...64,317,693
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G |
PLCH2 |
phospholipase C eta 2 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068
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G |
PLEKHN1 |
pleckstrin homology domain containing N1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,328,054...63,336,140
Ensembl chr 6:63,328,605...63,336,138
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G |
PRDM16 |
PR/SET domain 16 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570
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G |
PRKCZ |
protein kinase C zeta |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472
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G |
PRXL2B |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320
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G |
PUSL1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019
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G |
RER1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783
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G |
RNF223 |
ring finger protein 223 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357
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G |
SAMD11 |
sterile alpha motif domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,287,449...63,308,231
Ensembl chr 6:63,287,713...63,308,482
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G |
SCNN1D |
sodium channel epithelial 1 subunit delta |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,568,171...63,578,623
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G |
SDF4 |
stromal cell derived factor 4 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944
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G |
SKI |
SKI proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560
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G |
SLC35E2 |
solute carrier family 35 member E2 |
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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 chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561
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G |
SMIM1 |
small integral membrane protein 1 (Vel blood group) |
|
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 chr 6:65,255,792...65,259,129
Ensembl chr 6:65,255,823...65,259,126
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G |
SSU72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163
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G |
TAS1R3 |
taste 1 receptor member 3 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809
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G |
TMEM240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526
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G |
TMEM52 |
transmembrane protein 52 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286
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G |
TMEM88B |
transmembrane protein 88B |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456
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G |
TNFRSF18 |
TNF receptor superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405
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G |
TNFRSF4 |
TNF receptor superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666
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G |
TP73 |
tumor protein p73 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990
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G |
TPRG1L |
tumor protein p63 regulated 1 like |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:65,150,897...65,154,311
Ensembl chr 6:65,150,903...65,154,429
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G |
TTC34 |
tetratricopeptide repeat domain 34 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986
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G |
TTLL10 |
tubulin tyrosine ligase like 10 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918
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G |
UBE2J2 |
ubiquitin conjugating enzyme E2 J2 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017
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G |
VWA1 |
von Willebrand factor A domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287
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G |
WRAP73 |
WD repeat containing, antisense to TP73 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 6:65,155,201...65,167,091
Ensembl chr 6:65,155,209...65,167,079
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