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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 chr11:51,070,088...51,077,595
Ensembl chr11:51,071,707...51,073,851
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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 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
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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 chr16:23,165,347...23,268,115
Ensembl chr16:23,200,798...23,267,775
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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 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
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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 chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594
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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 chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048
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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 chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699
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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 chr20:49,345,258...49,352,944
Ensembl chr20:49,345,266...49,355,167
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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 chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223
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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 chr18:51,498,282...51,501,844
Ensembl chr18:51,498,308...51,499,541
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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 chr24:25,623,997...25,676,336
Ensembl chr24:25,626,134...25,680,902
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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 chr24:25,602,002...25,623,273
Ensembl chr24:25,610,851...25,623,803
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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 chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906
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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 chr27:45,739,845...45,814,668
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G |
AMIGO3 |
adhesion molecule with Ig like domain 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,554,028...39,557,129
Ensembl chr20:39,554,629...39,556,155
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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 chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506
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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 chr20:39,587,316...39,596,324
Ensembl chr20:39,587,279...39,596,228
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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 chr20:40,178,560...40,230,870
Ensembl chr20:40,179,168...40,230,880
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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 chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594
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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 chr20:39,601,803...39,696,831
Ensembl chr20:39,605,117...39,642,298
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G |
C20H3orf62 |
chromosome 20 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 chr20:39,953,285...39,959,112
Ensembl chr20:39,953,764...39,956,754
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G |
C20H3orf84 |
chromosome 20 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 chr20:40,012,730...40,021,983
Ensembl chr20:40,012,854...40,021,981
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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 chr20:39,413,050...39,428,973
Ensembl chr20:39,424,519...39,427,612
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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 chr20:40,031,573...40,036,895
Ensembl chr20:40,033,839...40,035,416
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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 chr20:39,473,450...39,482,158
Ensembl chr20:39,473,848...39,482,144
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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 chr20:40,457,430...40,495,128
Ensembl chr20:40,457,657...40,483,881
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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 chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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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 chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
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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 chr20:40,145,239...40,148,731
Ensembl chr20:40,145,700...40,148,729 Ensembl chr20:40,145,700...40,148,729
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G |
DCLRE1C |
DNA cross-link repair 1C |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 |
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NCBI chr 2:21,688,822...21,725,021
Ensembl chr 2:21,688,766...21,724,248
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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 chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
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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 chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697
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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 chr20:39,128,244...39,133,280
Ensembl chr20:39,128,244...39,133,280
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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 chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
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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 chr20:39,035,924...39,040,443
Ensembl chr20:39,038,514...39,040,368
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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 chr20:39,041,940...39,047,388
Ensembl chr20:39,042,070...39,047,365
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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 chr20:39,047,573...39,053,528
Ensembl chr20:39,048,259...39,053,341
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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 chr20:39,964,629...40,006,726
Ensembl chr20:39,965,480...39,990,756
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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 chr20:40,136,106...40,140,983
Ensembl chr20:40,136,154...40,140,972
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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 chr20:39,469,103...39,477,169
Ensembl chr20:39,469,146...39,470,857
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G |
IP6K1 |
inositol hexakisphosphate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,484,487...39,550,199
Ensembl chr20:39,484,531...39,547,412
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G |
IP6K2 |
inositol hexakisphosphate kinase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,403,260...40,437,863
Ensembl chr20:40,427,083...40,437,804
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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 chr20:40,012,797...40,027,888
Ensembl chr20:40,023,411...40,026,552
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G |
LAMB2 |
laminin subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523
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G |
LSMEM2 |
leucine rich single-pass membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,053,152...39,058,467
Ensembl chr20:39,053,950...39,054,717
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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 chr20:40,144,135...40,144,198
Ensembl chr20:40,144,121...40,144,210
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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 chr20:39,368,757...39,383,175
Ensembl chr20:39,378,694...39,383,175
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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 chr20:39,582,237...39,586,958
Ensembl chr20:39,582,282...39,586,908
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G |
MST1R |
macrophage stimulating 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,386,970...39,400,780
Ensembl chr20:39,387,322...39,400,588
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G |
NAA80 |
N-alpha-acetyltransferase 80, NatH catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,042,078...39,044,894
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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 chr20:40,443,245...40,449,859
Ensembl chr20:40,442,386...40,449,542
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G |
NDUFAF3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,141,550...40,143,207
Ensembl chr20:40,141,552...40,172,553
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G |
NICN1 |
nicolin 1, tubulin polyglutamylase complex subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,810,692...39,814,354
Ensembl chr20:39,810,692...39,814,354
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G |
P4HTM |
prolyl 4-hydroxylase, transmembrane |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,157,952...40,172,624
Ensembl chr20:40,157,952...40,172,599
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G |
PFKFB4 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,556,548...40,587,036
Ensembl chr20:40,556,790...40,585,652
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G |
PRKAR2A |
protein kinase cAMP-dependent type II regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,277,655...40,388,156
Ensembl chr20:40,277,906...40,384,633
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G |
QARS1 |
glutaminyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099
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G |
QRICH1 |
glutamine rich 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,086,141...40,135,810
Ensembl chr20:40,097,149...40,135,140
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G |
RBM5 |
RNA binding motif protein 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,198,706...39,227,856
Ensembl chr20:39,199,154...39,227,769
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G |
RBM6 |
RNA binding motif protein 6 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,235,301...39,359,784
Ensembl chr20:39,235,421...39,334,107
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G |
RHOA |
ras homolog family member A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
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G |
RNASEH2B |
ribonuclease H2 subunit B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223
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G |
RNF123 |
ring finger protein 123 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,553,016...39,582,127
Ensembl chr20:39,553,059...39,579,844
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G |
SEMA3B |
semaphorin 3B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,058,708...39,067,277
Ensembl chr20:39,059,245...39,065,661
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G |
SEMA3F |
semaphorin 3F |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,135,580...39,165,381
Ensembl chr20:39,136,523...39,161,325
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G |
SHISA5 |
shisa family member 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,604,183...40,624,607
Ensembl chr20:40,601,626...40,623,601
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G |
SLC25A20 |
solute carrier family 25 member 20 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,244,222...40,271,100
Ensembl chr20:40,244,229...40,270,433
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G |
SLC38A3 |
solute carrier family 38 member 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,108,387...39,122,526
Ensembl chr20:39,109,211...39,114,849
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G |
TCTA |
T cell leukemia translocation altered |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,820,845...39,824,526
Ensembl chr20:39,822,211...39,824,200
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G |
TMEM89 |
transmembrane protein 89 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,496,844...40,497,742
Ensembl chr20:40,496,844...40,497,742
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G |
TRAIP |
TRAF interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,430,109...39,454,437
Ensembl chr20:39,430,489...39,453,933
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G |
TREX1 |
three prime repair exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant |
ClinVar OMIM |
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:19344873 PMID:19875384 PMID:20131292 PMID:20392289 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 PMID:22718116 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23918923 PMID:23979357 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25500883 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:27604306 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29453956 PMID:29859840 PMID:30219631 PMID:31056085 PMID:31130681 PMID:31585108 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32483926 PMID:32860008 PMID:32877590 PMID:33042144 PMID:33476576 PMID:33504652 PMID:33528079 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:35307828 PMID:35456422 PMID:35532072 PMID:35803721 PMID:35879334 PMID:36586737 PMID:36964972 PMID:37171742 PMID:37865086 More...
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NCBI chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906
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G |
UBA7 |
ubiquitin like modifier activating enzyme 7 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,459,981...39,468,919
Ensembl chr20:39,460,216...39,468,917
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G |
UCN2 |
urocortin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,551,060...40,552,920
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G |
UQCRC1 |
ubiquinol-cytochrome c reductase core protein 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,507,767...40,515,854
Ensembl chr20:40,506,907...40,520,110
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G |
USP19 |
ubiquitin specific peptidase 19 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,062,802...40,074,221
Ensembl chr20:40,064,599...40,074,082
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G |
USP4 |
ubiquitin specific peptidase 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:39,899,880...39,952,959
Ensembl chr20:39,899,897...39,952,420
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G |
WDR6 |
WD repeat domain 6 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr20:40,148,262...40,157,770
Ensembl chr20:40,148,928...40,157,650
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G |
RNASEH2B |
ribonuclease H2 subunit B |
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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 chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223
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G |
ACTN3 |
actinin alpha 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,787,353...50,801,036
Ensembl chr18:50,787,353...50,801,197
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G |
ACY3 |
aminoacylase 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:49,860,273...49,865,202
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G |
AIP |
aryl hydrocarbon receptor interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:49,986,582...49,992,756
Ensembl chr18:49,986,587...49,992,676
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G |
ALDH3B1 |
aldehyde dehydrogenase 3 family member B1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:49,801,893...49,819,727
Ensembl chr18:49,802,121...49,819,713
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G |
ANKRD13D |
ankyrin repeat domain 13D |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,135,779...50,145,721
Ensembl chr18:50,135,792...50,145,846
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G |
ANO1 |
anoctamin 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:48,108,310...48,249,021
Ensembl chr18:48,108,806...48,189,471
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G |
AP5B1 |
adaptor related protein complex 5 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr18:51,472,966...51,476,231
Ensembl chr18:51,462,758...51,476,114
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G |
B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264
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G |
BANF1 |
BAF nuclear assembly factor 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,269,817...51,271,484
Ensembl chr18:51,269,815...51,271,690
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G |
BBS1 |
Bardet-Biedl syndrome 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,816,126...50,835,354
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G |
BRMS1 |
BRMS1 transcriptional repressor and anoikis regulator |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,967,175...50,974,816
Ensembl chr18:50,967,270...50,974,321
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G |
C18H11orf24 |
chromosome 18 C11orf24 homolog |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:49,580,495...49,590,962
Ensembl chr18:49,584,563...49,591,683
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G |
C18H11orf68 |
chromosome 18 C11orf68 homolog |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,353,212...51,355,490
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G |
C18H11orf86 |
chromosome 18 C11orf86 homolog |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,394,024...50,395,968
Ensembl chr18:50,394,805...50,395,812
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G |
CABP2 |
calcium binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268
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G |
CABP4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854
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G |
CAPN1 |
calpain 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757
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G |
CARNS1 |
carnosine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,041,545...50,050,438
Ensembl chr18:50,042,465...50,050,949
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G |
CATSPER1 |
cation channel sperm associated 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,249,897...51,260,211
Ensembl chr18:51,250,039...51,260,168
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G |
CCDC85B |
coiled-coil domain containing 85B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,375,015...51,376,044
Ensembl chr18:51,375,261...51,375,866
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G |
CCDC87 |
coiled-coil domain containing 87 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,759,378...50,762,205
Ensembl chr18:50,759,436...50,762,057
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G |
CCND1 |
cyclin D1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
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G |
CCS |
copper chaperone for superoxide dismutase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,748,039...50,759,270
Ensembl chr18:50,748,041...50,759,191
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G |
CD248 |
CD248 molecule |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,991,552...50,994,185
Ensembl chr18:50,991,585...50,994,179
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G |
CDC42EP2 |
CDC42 effector protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,854,975...51,863,594
Ensembl chr18:51,857,367...51,858,011
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G |
CDK2AP2 |
cyclin dependent kinase 2 associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:49,969,630...49,971,781
Ensembl chr18:49,970,160...49,971,457
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G |
CFL1 |
cofilin 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 chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212
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G |
CHKA |
choline kinase alpha |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:49,717,512...49,784,653
Ensembl chr18:49,745,437...49,781,882
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G |
CLCF1 |
cardiotrophin like cytokine factor 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,084,120...50,093,825
Ensembl chr18:50,083,915...50,102,651
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G |
CNIH2 |
cornichon family AMPA receptor auxiliary protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,020,263...51,026,280
Ensembl chr18:51,021,116...51,026,273
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G |
CORO1B |
coronin 1B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,027,274...50,031,601
Ensembl chr18:50,027,275...50,050,907
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G |
CPT1A |
carnitine palmitoyltransferase 1A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117
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G |
CST6 |
cystatin E/M |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,263,161...51,264,816
Ensembl chr18:51,263,178...51,264,780
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G |
CTSF |
cathepsin F |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,782,326...50,787,213
Ensembl chr18:50,782,404...50,786,996
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G |
CTSW |
cathepsin W |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,381,999...51,386,277
Ensembl chr18:51,382,122...51,386,261
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G |
DPF2 |
double PHD fingers 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087
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G |
DPP3 |
dipeptidyl peptidase 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,835,739...50,868,777
Ensembl chr18:50,835,735...50,868,682
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G |
DRAP1 |
DR1 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,350,625...51,352,742
Ensembl chr18:51,350,716...51,352,977
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G |
EFEMP2 |
EGF containing fibulin extracellular matrix protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107
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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 chr18:51,613,465...51,630,589
Ensembl chr18:51,614,425...51,630,315
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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 chr18:51,271,850...51,276,215
Ensembl chr18:51,272,855...51,274,487
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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 chr18:48,087,447...48,094,497
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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 chr18:51,632,509...51,634,218
Ensembl chr18:51,632,781...51,634,034
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G |
FGF19 |
fibroblast growth factor 19 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:48,464,931...48,469,967
Ensembl chr18:48,464,928...48,469,782
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G |
FGF3 |
fibroblast growth factor 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009
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G |
FGF4 |
fibroblast growth factor 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:48,413,480...48,417,494
Ensembl chr18:48,413,187...48,416,977
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G |
FIBP |
FGF1 intracellular binding protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,377,757...51,381,872
Ensembl chr18:51,377,797...51,381,808
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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 chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748
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G |
FRMD8 |
FERM domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,782,664...51,807,343
Ensembl chr18:51,784,413...51,806,874
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G |
GAL |
galanin and GMAP prepropeptide |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:49,240,437...49,246,543
Ensembl chr18:49,240,437...49,246,950
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G |
GAL3ST3 |
galactose-3-O-sulfotransferase 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:51,215,280...51,222,962
Ensembl chr18:51,219,156...51,222,418
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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 chr18:50,019,898...50,022,587
Ensembl chr18:50,020,286...50,021,695
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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 chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428
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G |
GSTP1 |
glutathione S-transferase pi 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
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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 chr18:49,063,748...49,090,625
Ensembl chr18:49,064,609...49,091,453
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G |
KAT5 |
lysine acetyltransferase 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600438 |
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NCBI chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699
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G |
KCNK7 |
potassium two pore domain channel subfamily K member 7 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr18:51,609,373...51,613,802
Ensembl chr18:51,610,746...51,613,675
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G |
KDM2A |
lysine demethylase 2A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,178,511...50,294,097
Ensembl chr18:50,181,024...50,291,127
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G |
KLC2 |
kinesin light chain 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:51,035,013...51,045,629
Ensembl chr18:51,035,705...51,045,595
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G |
KMT5B |
lysine methyltransferase 5B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:49,655,783...49,691,899
Ensembl chr18:49,637,610...49,827,034
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G |
LOC611806 |
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 chr18:49,856,341...49,860,263
Ensembl chr18:49,853,737...49,859,927
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G |
LOC611847 |
DNA polymerase delta 4, accessory subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:50,101,211...50,103,045
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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 chr18:50,495,971...50,499,062
Ensembl chr18:50,495,971...50,499,068
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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 chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396
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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 chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433
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G |
LTO1 |
LTO1 maturation factor of ABCE1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:48,482,212...48,490,678
Ensembl chr18:48,481,955...48,490,691
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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 chr18:51,593,641...51,609,245
Ensembl chr18:51,594,274...51,608,696
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G |
MRGPRD |
MAS related GPR family member D |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:49,028,149...49,029,198
Ensembl chr18:49,028,149...49,029,198
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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 chr18:49,006,789...49,015,080
Ensembl chr18:49,006,888...49,015,080
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G |
MRPL11 |
mitochondrial ribosomal protein L11 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:50,890,411...50,893,891
Ensembl chr18:50,890,413...50,893,767
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G |
MRPL21 |
mitochondrial ribosomal protein L21 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:49,090,521...49,104,052
Ensembl chr18:49,090,689...49,104,051
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G |
MUS81 |
MUS81 structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr18:51,396,980...51,404,563
Ensembl chr18:51,396,980...51,402,534
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G |
NDUFS8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:49,796,558...49,800,805
Ensembl chr18:49,796,560...49,799,979
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G |
NDUFV1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:49,882,844...49,888,448
Ensembl chr18:49,882,907...49,888,434
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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 chr18:50,905,614...50,912,119
Ensembl chr18:50,905,611...50,911,086
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G |
NUDT8 |
nudix hydrolase 8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:49,874,630...49,876,703
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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 chr18:51,454,170...51,465,189
Ensembl chr18:51,455,107...51,464,847
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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 chr18:51,055,487...51,196,223
Ensembl chr18:51,056,429...51,196,102
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G |
PC |
pyruvate carboxylase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669
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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 chr18:51,572,004...51,592,811
Ensembl chr18:51,571,452...51,592,104
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G |
PELI3 |
pellino E3 ubiquitin protein ligase family member 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,870,483...50,881,089
Ensembl chr18:50,872,426...50,879,826
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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 chr18:49,972,970...49,985,995
Ensembl chr18:49,974,093...49,985,909
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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 |
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NCBI chr18:51,875,860...51,904,492
Ensembl chr18:51,875,903...51,904,746
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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 |
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NCBI chr18:50,062,352...50,065,166
Ensembl chr18:50,062,352...50,065,166
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G |
PPP6R3 |
protein phosphatase 6 regulatory subunit 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:49,287,571...49,432,503
Ensembl chr18:49,289,044...49,385,656
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G |
PTPRCAP |
protein tyrosine phosphatase receptor type C associated protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,031,740...50,034,200
Ensembl chr18:50,027,275...50,050,907
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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 |
|
NCBI chr18:51,026,975...51,034,356
Ensembl chr18:51,028,013...51,034,473
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G |
RAD9A |
RAD9 checkpoint clamp component A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,065,154...50,070,582
Ensembl chr18:50,065,685...50,070,710
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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 chr18:50,683,227...50,728,512
Ensembl chr18:50,705,024...50,811,319
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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 chr18:50,676,138...50,686,061
Ensembl chr18:50,676,162...50,685,573
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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 chr18:50,509,426...50,512,575
Ensembl chr18:50,509,768...50,517,543
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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 chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
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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 chr18:50,320,428...50,330,108
Ensembl chr18:50,321,400...50,330,103
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G |
RIN1 |
Ras and Rab interactor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,975,002...50,982,052
Ensembl chr18:50,975,814...50,980,381
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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 chr18:51,498,282...51,501,844
Ensembl chr18:51,498,308...51,499,541
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G |
RPS6KB2 |
ribosomal protein S6 kinase B2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,034,318...50,039,892
Ensembl chr18:50,034,364...50,040,250
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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 chr18:51,297,419...51,313,804
Ensembl chr18:51,297,419...51,313,793
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G |
SCYL1 |
SCY1 like pseudokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,667,647...51,680,904
Ensembl chr18:51,667,790...51,681,090
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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 chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354
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G |
SIPA1 |
signal-induced proliferation-associated 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr18:51,560,551...51,571,291
Ensembl chr18:51,560,551...51,568,885
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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 chr18:51,810,842...51,817,230
Ensembl chr18:51,811,039...51,816,094
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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 |
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NCBI chr18:50,946,647...50,955,085
Ensembl chr18:50,946,724...50,954,413
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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 chr18:51,408,460...51,423,440
Ensembl chr18:51,408,983...51,423,410
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G |
SPTBN2 |
spectrin beta, non-erythrocytic 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,631,053...50,670,428
Ensembl chr18:50,631,909...50,669,916
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SSH3 |
slingshot protein phosphatase 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,126,646...50,134,799
Ensembl chr18:50,126,663...50,134,729
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SYT12 |
synaptotagmin 12 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,334,779...50,358,113
Ensembl chr18:50,336,042...50,351,333
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TBC1D10C |
TBC1 domain family member 10C |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,055,376...50,062,166
Ensembl chr18:50,055,363...50,061,173
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TBX10 |
T-box transcription factor 10 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:49,870,618...49,873,452
Ensembl chr18:49,866,920...49,873,190
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TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317
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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 chr18:49,191,265...49,232,030
Ensembl chr18:49,191,211...49,230,576
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TIGD3 |
tigger transposable element derived 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,827,870...51,829,746
Ensembl chr18:51,828,247...51,829,665
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TMEM134 |
transmembrane protein 134 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,003,556...50,008,748
Ensembl chr18:50,003,109...50,008,745
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TMEM151A |
transmembrane protein 151A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,008,288...51,013,091
Ensembl chr18:51,009,415...51,013,181
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G |
TOP6BL |
TOP6B like initiator of meiotic double strand breaks |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,512,681...50,617,666
Ensembl chr18:50,549,497...50,560,943
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G |
TPCN2 |
two pore segment channel 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:48,956,833...48,984,499
Ensembl chr18:48,957,249...48,984,564
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G |
TSGA10IP |
testis specific 10 interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,315,150...51,323,769
Ensembl chr18:51,314,177...51,323,718
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UNC93B1 |
unc-93 homolog B1, TLR signaling regulator |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:49,826,044...49,835,417
Ensembl chr18:49,826,026...49,882,461
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YIF1A |
Yip1 interacting factor homolog A, membrane trafficking protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:51,015,575...51,019,909
Ensembl chr18:51,015,641...51,019,901
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ZDHHC24 |
zinc finger DHHC-type containing 24 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr18:50,801,179...50,808,480
Ensembl chr18:50,801,303...50,806,877
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G |
ZNRD2 |
zinc ribbon domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr18:51,634,946...51,636,330
Ensembl chr18:51,634,892...51,637,087
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BEST2 |
bestrophin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,384,595...49,388,758
Ensembl chr20:49,384,966...49,388,755
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G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
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G |
CALR |
calreticulin |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245
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G |
DAND5 |
DAN domain BMP antagonist family member 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,225,351...49,228,940
Ensembl chr20:49,225,990...49,228,940
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G |
DHPS |
deoxyhypusine synthase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,435,956...49,439,493
Ensembl chr20:49,435,844...49,439,479
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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 chr20:49,299,236...49,301,815
Ensembl chr20:49,299,406...49,301,814
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G |
FARSA |
phenylalanyl-tRNA synthetase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,258,827...49,267,279
Ensembl chr20:49,258,845...49,267,198
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G |
FBXW9 |
F-box and WD repeat domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,425,423...49,430,673
Ensembl chr20:49,425,534...49,430,667
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G |
GADD45GIP1 |
GADD45G interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,241,956...49,243,838
Ensembl chr20:49,241,962...49,243,837
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G |
GCDH |
glutaryl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
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G |
GET3 |
guided entry of tail-anchored proteins factor 3, ATPase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,392,662...49,398,662
Ensembl chr20:49,392,662...49,398,664
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G |
HOOK2 |
hook microtubule tethering protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,367,450...49,383,109
Ensembl chr20:49,367,876...49,382,813
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G |
IER2 |
immediate early response 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,071,243...49,074,184
Ensembl chr20:49,072,234...49,072,902
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G |
JUNB |
JunB proto-oncogene, AP-1 transcription factor subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442
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G |
KLF1 |
KLF transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602
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G |
LYL1 |
LYL1 basic helix-loop-helix family member |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,109,358...49,113,911
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G |
MAN2B1 |
mannosidase alpha class 2B member 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,446,162...49,461,812
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G |
MAST1 |
microtubule associated serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,302,037...49,329,247
Ensembl chr20:49,302,162...49,329,837
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G |
NACC1 |
nucleus accumbens associated 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,080,490...49,099,623
Ensembl chr20:49,083,132...49,099,884
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G |
NFIX |
nuclear factor I X |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,117,087...49,187,023
Ensembl chr20:49,117,943...49,214,788
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G |
PRDX2 |
peroxiredoxin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,352,271...49,356,755
Ensembl chr20:49,352,266...49,356,682
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G |
RAD23A |
RAD23 homolog A, nucleotide excision repair protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,244,330...49,250,058
Ensembl chr20:49,241,358...49,250,039
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G |
RNASEH2A |
ribonuclease H2 subunit A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition |
OMIM ClinVar |
PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 PMID:16199547 PMID:16602100 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19486177 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25500883 PMID:25604658 PMID:25735478 PMID:25741868 PMID:26182405 PMID:26467025 PMID:27250579 PMID:27943079 PMID:28492532 PMID:28600779 PMID:28739201 PMID:29239743 PMID:31069529 PMID:31130284 PMID:31130681 PMID:31325311 PMID:31529068 PMID:33165593 PMID:33353557 PMID:33707687 PMID:35551623 PMID:36430958 PMID:37626525 More...
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NCBI chr20:49,345,258...49,352,944
Ensembl chr20:49,345,266...49,355,167
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G |
RTBDN |
retbindin |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,324,843...49,337,226
Ensembl chr20:49,334,127...49,337,223
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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 chr20:49,075,302...49,078,694
Ensembl chr20:49,075,834...49,085,324
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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 chr20:49,267,985...49,285,986
Ensembl chr20:49,281,773...49,283,880
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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 chr20:49,407,842...49,424,220
Ensembl chr20:49,407,152...49,424,752
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G |
TRIR |
telomerase RNA component interacting RNase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,400,082...49,403,533
Ensembl chr20:49,400,179...49,403,530
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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 chr20:49,100,794...49,108,734
Ensembl chr20:49,101,158...49,108,732
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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 chr20:49,439,387...49,443,661
Ensembl chr20:49,439,387...49,443,661
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G |
WDR83OS |
WD repeat domain 83 opposite strand |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr20:49,443,893...49,445,342
Ensembl chr20:49,443,951...49,445,330
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G |
BLCAP |
BLCAP apoptosis inducing factor |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr24:26,115,356...26,125,963
Ensembl chr24:26,116,887...26,117,150
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G |
CTNNBL1 |
catenin beta like 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr24:26,253,884...26,415,166
Ensembl chr24:26,253,962...26,415,163
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G |
GHRH |
growth hormone releasing hormone |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712
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G |
MANBAL |
mannosidase beta like |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr24:25,921,827...25,947,363
Ensembl chr26:9,823,398...9,823,589
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G |
MROH8 |
maestro heat like repeat family member 8 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr24:25,768,115...25,827,848
Ensembl chr24:25,770,731...25,828,080
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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 chr24:26,119,153...26,121,573
Ensembl chr24:26,118,991...26,120,906
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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 chr24:25,698,313...25,757,358
Ensembl chr24:25,699,638...25,757,229
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G |
RPN2 |
ribophorin II |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr24:25,827,524...25,884,813
Ensembl chr24:25,827,450...25,955,742
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G |
SAMHD1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:21402907 PMID:22174685 PMID:22461318 PMID: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 chr24:25,623,997...25,676,336
Ensembl chr24:25,626,134...25,680,902
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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 chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077
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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 chr24:25,602,002...25,623,273
Ensembl chr24:25,610,851...25,623,803
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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 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
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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 chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048
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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 chr 4:52,532,660...52,546,273
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G |
C27H12orf57 |
chromosome 27 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 chr27:38,101,705...38,103,553
Ensembl chr27:38,101,786...38,127,910 Ensembl chr27:38,101,786...38,127,910
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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 chr16:22,990,377...23,009,257
Ensembl chr16:22,990,167...23,009,106
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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 chr16:23,021,652...23,040,907
Ensembl chr16:23,021,645...23,048,347
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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 chr30:11,521,833...11,541,719
Ensembl chr30:11,521,845...11,541,716
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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 chr16:22,739,070...22,767,942
Ensembl chr16:22,739,079...22,767,914
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G |
HOOK3 |
hook microtubule tethering protein 3 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr16:22,791,198...22,940,168
Ensembl chr16:22,784,267...22,901,991
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G |
PDGFB |
platelet derived growth factor subunit B |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:25741868 |
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NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
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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 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
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G |
RNF170 |
ring finger protein 170 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr16:22,901,224...22,929,990
Ensembl chr16:22,900,313...22,927,125
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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 chr16:23,165,347...23,268,115
Ensembl chr16:23,200,798...23,267,775
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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 chr16:23,152,852...23,165,554
Ensembl chr16:23,153,968...23,165,771
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G |
THAP1 |
THAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chr16:22,940,257...22,951,453
Ensembl chr16:22,940,216...22,948,582
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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 chr17:4,466,615...4,478,546
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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 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
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G |
PDGFB |
platelet derived growth factor subunit B |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 |
OMIM ClinVar |
PMID:20301594 PMID:21409505 PMID:23913003 PMID:25211641 PMID:25741868 PMID:26599395 PMID:29955172 More...
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NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
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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 7:14,165,608...14,379,822
Ensembl chr 7:14,165,608...14,379,822
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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 chr11:51,070,088...51,077,595
Ensembl chr11:51,071,707...51,073,851
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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 chr31:21,137,378...21,198,278
Ensembl chr31:21,137,363...21,197,668
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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 6:37,759,233...37,784,224
Ensembl chr 6:37,761,497...37,793,290
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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 chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048
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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 5:56,466,833...56,482,023
Ensembl chr 5:56,468,164...56,481,913
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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 5:57,659,055...57,660,479
Ensembl chr 5:57,659,262...57,660,395
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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 5:56,239,621...56,273,679
Ensembl chr 5:56,239,701...56,272,745
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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 5:56,564,686...56,568,194
Ensembl chr 5:56,565,514...56,567,376
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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 5:58,031,246...58,051,936
Ensembl chr 5:58,030,459...58,051,936
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G |
ATAD3A |
ATPase family AAA domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746
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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 5:56,539,987...56,541,578
Ensembl chr 5:56,539,991...56,541,388
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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 5:56,421,687...56,423,120
Ensembl chr 5:56,405,372...56,422,771
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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 5:56,433,555...56,438,419
Ensembl chr 5:56,433,552...56,438,339
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G |
C5H1orf159 |
chromosome 5 C1orf159 homolog |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,296,633...56,330,358
Ensembl chr 5:56,297,635...56,307,616
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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 5:56,901,401...56,904,422
Ensembl chr 5:56,901,715...56,904,424
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G |
CCDC27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:58,266,091...58,280,997
Ensembl chr 5:58,269,308...58,279,829
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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 5:56,542,358...56,550,701
Ensembl chr 5:56,542,566...56,550,691
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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 5:56,698,267...56,714,075
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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 5:58,301,767...58,339,920
Ensembl chr 5:58,305,589...58,335,438
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G |
CFAP74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,909,092...56,970,980
Ensembl chr 5:56,909,486...56,961,903
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G |
CPTP |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,498,163...56,501,918
Ensembl chr 5:56,498,207...56,500,845
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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 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491
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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 5:57,114,784...57,122,854
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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 5:56,660,721...56,662,696
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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 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358
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G |
GNB1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295
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G |
HES4 |
hes family bHLH transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,221,509...56,226,938
Ensembl chr 5:56,225,497...56,226,772
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G |
HES5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:57,387,961...57,389,412
Ensembl chr 5:57,388,674...57,389,388
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G |
INTS11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017
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G |
ISG15 |
ISG15 ubiquitin like modifier |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
OMIM ClinVar |
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 PMID:21031596 PMID:22859821 PMID:24033266 PMID:25307056 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 PMID:32402279 More...
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NCBI chr 5:56,230,879...56,237,354
Ensembl chr 5:56,236,318...56,404,695
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G |
KLHL17 |
kelch like family member 17 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,186,077...56,193,671
Ensembl chr 5:56,187,922...56,192,983
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G |
LRRC47 |
leucine rich repeat containing 47 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:58,286,909...58,297,961
Ensembl chr 5:58,288,392...58,297,996
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G |
MEGF6 |
multiple EGF like domains 6 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:58,058,833...58,145,855
Ensembl chr 5:58,059,031...58,146,193
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G |
MIB2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,680,526...56,693,551
Ensembl chr 5:56,581,550...56,693,544
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G |
MIR200A |
microRNA mir-200a |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,369,063...56,369,152
Ensembl chr 5:56,369,061...56,369,151
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G |
MIR200B |
microRNA mir-200b |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479
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G |
MMEL1 |
membrane metalloendopeptidase like 1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911
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G |
MMP23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,693,751...56,697,284
Ensembl chr 5:56,694,966...56,697,284
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G |
MORN1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:57,227,265...57,275,292
Ensembl chr 5:57,227,315...57,277,669
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G |
MRPL20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,553,326...56,558,182
Ensembl chr 5:56,553,331...56,558,136
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G |
MXRA8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,522,283...56,526,750
Ensembl chr 5:56,522,470...56,526,668
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G |
NADK |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,743,920...56,774,578
Ensembl chr 5:56,745,869...56,774,529
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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 5:56,172,399...56,185,993
Ensembl chr 5:56,172,446...56,185,932
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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 5:57,370,624...57,386,095
Ensembl chr 5:57,370,946...57,386,089
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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 5:57,289,530...57,291,864
Ensembl chr 5:57,289,326...57,291,802
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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 5:57,303,160...57,368,568
Ensembl chr 5:57,302,996...57,371,468
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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 5:56,193,824...56,202,340
Ensembl chr 5:56,194,583...56,202,293
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G |
PRDM16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976
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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 5:57,012,020...57,113,346
Ensembl chr 5:57,012,070...57,112,664
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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 5:57,429,973...57,434,371
Ensembl chr 5:57,429,212...57,434,210
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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 5:56,482,802...56,485,778
Ensembl chr 5:56,482,363...56,485,783
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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 5:57,278,349...57,288,564
Ensembl chr 5:57,278,371...57,285,870
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G |
RNF223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,290,548...56,293,473
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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 5:56,119,207...56,175,267
Ensembl chr 5:56,151,171...56,172,055
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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 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595
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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 5:56,407,506...56,421,515
Ensembl chr 5:56,407,807...56,421,430
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G |
SKI |
SKI proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:57,144,178...57,216,385
Ensembl chr 5:57,145,825...57,214,403
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G |
SLC35E2 |
solute carrier family 35 member E2 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,715,798...56,739,464
Ensembl chr 5:56,718,550...56,738,420
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G |
SMIM1 |
small integral membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:58,281,962...58,285,071
Ensembl chr 5:58,282,347...58,284,616
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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 5:56,620,803...56,650,131
Ensembl chr 5:56,620,805...56,650,131
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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 5:56,503,720...56,506,883
Ensembl chr 5:56,503,720...56,506,898
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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 5:56,613,561...56,619,693
Ensembl chr 5:56,614,201...56,619,693
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G |
TMEM52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,900,297...56,906,565
Ensembl chr 5:56,901,674...56,906,500
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G |
TMEM88B |
transmembrane protein 88B |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:56,569,512...56,573,353
Ensembl chr 5:56,569,814...56,571,310
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G |
TNFRSF14 |
TNF receptor superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:57,386,190...57,416,864
Ensembl chr 5:57,411,529...57,416,512
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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 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741
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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 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761
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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 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
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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 5:58,155,178...58,159,880
Ensembl chr 5:58,157,096...58,159,880
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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 5:57,470,807...57,481,874
Ensembl chr 5:57,473,001...57,490,971
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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 5:56,364,247...56,390,899
Ensembl chr 5:56,336,884...56,388,693
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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 5:56,440,394...56,455,491
Ensembl chr 5:56,441,821...56,455,460
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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 5:56,578,256...56,583,552
Ensembl chr 5:56,578,297...56,582,502
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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 5:58,160,438...58,176,011
Ensembl chr 5:58,160,431...58,175,920
|
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