RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | calcium metabolism disease |
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Accession: | DOID:10575
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browse the term
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Definition: | Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. |
Synonyms: | exact_synonym: | calcium metabolism disorder; calcium metabolism disorders |
| primary_id: | MESH:D002128 |
| alt_id: | RDO:0001607 |
| xref: | EFO:0005769; ICD9CM:275.4 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Adar |
adenosine deaminase, RNA-specific |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846 DNA:mutations:exons: |
CTD ClinVar MouseDO RGD |
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 PMID:23001123 More...
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RGD:11069491 |
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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Atrip |
ATR interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: 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:21270825 PMID:21937424 PMID:23602593 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:29453417 PMID:30219631 PMID:31585108 PMID:31980526 PMID:32860008 PMID:33504652 PMID:34426522 PMID:35307828 PMID:35532072 PMID:36586737 More...
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NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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Ifih1 |
interferon induced with helicase C domain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
CTD ClinVar |
PMID:24686847 PMID:25741868 |
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NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Kat5 |
lysine acetyltransferase 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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Rnaseh2a |
ribonuclease H2, subunit A |
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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 chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
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Rnaseh2b |
ribonuclease H2, subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
CTD ClinVar |
PMID: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:25604658 PMID:25614871 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:27943079 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:30111349 PMID:30223285 PMID:30609409 PMID:30826161 PMID:31130284 PMID:31130681 PMID:31367981 PMID:31529068 PMID:31664448 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:33258288 PMID:33967934 More...
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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Rnaseh2c |
ribonuclease H2, subunit C |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:21177854 PMID:23322642 PMID:24183309 PMID:25604658 PMID:25741868 PMID:28492532 PMID:28739201 PMID:29150899 PMID:29239743 PMID:30315573 PMID:31529068 PMID:32404165 PMID:34302356 More...
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NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516
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Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:23364794 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 More...
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NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Tldc2 |
TBC/LysM-associated domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
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Trex1 |
three prime repair exonuclease 1 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism 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 OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846 |
CTD ClinVar MouseDO |
PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:21270825 PMID:21937424 PMID:23602593 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:29453417 PMID:30219631 PMID:31585108 PMID:31980526 PMID:32860008 PMID:33504652 PMID:34426522 PMID:35307828 PMID:35532072 PMID:36586737 More...
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NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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Usp18 |
ubiquitin specific peptidase 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
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Amigo3 |
adhesion molecule with Ig like domain 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555
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Amt |
aminomethyltransferase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
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Apeh |
acylaminoacyl-peptide hydrolase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,773,791...108,782,903
Ensembl chr 8:108,773,794...108,782,933
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Arih2 |
ariadne RBR E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852
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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:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 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:30219631 PMID:31130681 PMID:31585108 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32860008 PMID:32877590 PMID:33042144 PMID:33476576 PMID:33504652 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:35307828 PMID:35532072 PMID:35803721 PMID:35879334 PMID:36586737 PMID:36964972 PMID:37171742 More...
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NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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Bsn |
bassoon (presynaptic cytomatrix protein) |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819
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C8h3orf62 |
similar to human chromosome 3 open reading frame 62 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,080,032...109,084,588
Ensembl chr 8:109,036,030...109,097,895
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Camkv |
CaM kinase-like vesicle-associated |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169
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Ccdc71 |
coiled-coil domain containing 71 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
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Cdhr4 |
cadherin-related family member 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,682,594...108,690,358
Ensembl chr 8:108,682,613...108,690,367
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Celsr3 |
cadherin, EGF LAG seven-pass G-type receptor 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354
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Cimip7 |
ciliary microtubule inner protein 7 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
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Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
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Dag1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Dalrd3 |
DALR anticodon binding domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568
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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 chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
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Gmppb |
GDP-mannose pyrophosphorylase B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286
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Gnai2 |
G protein subunit alpha i2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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Gnat1 |
G protein subunit alpha transducin 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
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Gpx1 |
glutathione peroxidase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Hyal1 |
hyaluronidase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210
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Hyal3 |
hyaluronidase 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647
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Ifrd2 |
interferon-related developmental regulator 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194
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Iho1 |
interactor of HORMAD1 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
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Impdh2 |
inosine monophosphate dehydrogenase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359
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Inka1 |
inka box actin regulator 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,674,263...108,675,953
Ensembl chr 8:108,674,263...108,675,953
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Ip6k1 |
inositol hexakisphosphate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,693,068...108,737,278
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Ip6k2 |
inositol hexakisphosphate kinase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166
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Klhdc8b |
kelch domain containing 8B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
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Lamb2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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Lsmem2 |
leucine-rich single-pass membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115
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Mir191 |
microRNA 191 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,264,098...109,264,188
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Mon1a |
MON1 homolog A, secretory trafficking associated |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156
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Mst1 |
macrophage stimulating 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416
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Mst1r |
macrophage stimulating 1 receptor |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
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Naa80 |
N(alpha)-acetyltransferase 80, NatH catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563
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Nckipsd |
NCK interacting protein with SH3 domain |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,511,484...109,522,622
Ensembl chr 8:109,511,658...109,522,246
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G |
Ndufaf3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194
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G |
Nicn1 |
nicolin 1, tubulin polyglutamylase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
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G |
P4htm |
prolyl 4-hydroxylase, transmembrane |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473
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G |
Pfkfb4 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634
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G |
Prkar2a |
protein kinase cAMP-dependent type II regulatory subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628
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G |
Qars1 |
glutaminyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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G |
Qrich1 |
glutamine-rich 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
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G |
Rbm5 |
RNA binding motif protein 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430
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G |
Rbm6 |
RNA binding motif protein 6 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771
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G |
Rhoa |
ras homolog family member A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
Rnaseh2b |
ribonuclease H2, subunit B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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G |
Rnf123 |
ring finger protein 123 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675
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G |
Sema3b |
semaphorin 3B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
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G |
Sema3f |
semaphorin 3F |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083
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G |
Shisa5 |
shisa family member 5 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,691,504...109,706,411
Ensembl chr 8:109,691,522...109,706,408
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G |
Slc25a20 |
solute carrier family 25 member 20 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
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G |
Slc26a6 |
solute carrier family 26 member 6 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778
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G |
Slc38a3 |
solute carrier family 38, member 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
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G |
Tcta |
T-cell leukemia translocation altered |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
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G |
Tmem89 |
transmembrane protein 89 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271
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G |
Traip |
TRAF-interacting protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
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G |
Trex1 |
three prime repair exonuclease 1 |
|
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:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 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:30219631 PMID:31130681 PMID:31585108 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32860008 PMID:32877590 PMID:33042144 PMID:33476576 PMID:33504652 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:35307828 PMID:35532072 PMID:35803721 PMID:35879334 PMID:36586737 PMID:36964972 PMID:37171742 More...
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NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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G |
Uba7 |
ubiquitin-like modifier activating enzyme 7 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:108,665,289...108,674,097
Ensembl chr 8:108,665,292...108,674,099
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G |
Ucn2 |
urocortin 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
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G |
Uqcrc1 |
ubiquinol-cytochrome c reductase core protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480
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G |
Usp19 |
ubiquitin specific peptidase 19 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,190,727...109,201,761
Ensembl chr 8:109,190,724...109,201,741
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G |
Usp4 |
ubiquitin specific peptidase 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,035,402...109,079,382
Ensembl chr 8:109,036,099...109,080,427
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G |
Wdr6 |
WD repeat domain 6 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
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G |
Rnaseh2b |
ribonuclease H2, subunit B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:21177858 PMID:22149989 PMID:22882256 PMID:23165795 PMID:24033266 PMID:24183309 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25614871 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26846091 PMID:26860721 PMID:26903602 PMID:27009121 PMID:27943079 PMID:28332073 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:30111349 PMID:30223285 PMID:30609409 PMID:30826161 PMID:30889214 PMID:31130284 PMID:31130681 PMID:31367981 PMID:31529068 PMID:31664448 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:32488064 PMID:33084218 PMID:33258288 PMID:33307271 PMID:33482855 PMID:33967934 PMID:33981319 More...
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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G |
Actn3 |
actinin alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,159,081...202,175,012
Ensembl chr 1:202,159,082...202,175,012
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G |
Acy3 |
aminoacylase 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,279,751...201,285,803
Ensembl chr 1:201,279,851...201,283,175
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G |
Aip |
aryl-hydrocarbon receptor-interacting protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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G |
Aldh3b1 |
aldehyde dehydrogenase 3 family, member B1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,145,309...201,162,675
Ensembl chr 1:201,145,309...201,163,921
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G |
Aldh3b2 |
aldehyde dehydrogenase 3 family, member B2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,250,260...201,264,699
Ensembl chr 1:201,253,157...201,264,705 Ensembl chr 1:201,253,157...201,264,705
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G |
Aldh3b3 |
aldehyde dehydrogenase 3 family, member B3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,193,832...201,201,666
Ensembl chr 1:201,187,962...201,250,204
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G |
Ankrd13d |
ankyrin repeat domain 13D |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,565,712...201,577,987
Ensembl chr 1:201,565,712...201,577,933
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G |
Ano1 |
anoctamin 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:199,751,439...199,900,099
Ensembl chr 1:199,751,439...199,900,069
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G |
Ap5b1 |
adaptor related protein complex 5 subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289
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G |
B4gat1 |
beta-1,4-glucuronyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
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G |
Banf1 |
barrier to autointegration nuclear assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188
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G |
Bbs1 |
Bardet-Biedl syndrome 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
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G |
Bles03 |
basophilic leukemia expressed protein BLES03 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804
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G |
Brms1 |
BRMS1, transcriptional repressor and anoikis regulator |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028
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G |
C1h11orf24 |
similar to human chromosome 11 open reading frame 24 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,945,188...200,953,953
Ensembl chr 1:200,945,180...200,962,585
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G |
C1h11orf86 |
similar to human chromosome 11 open reading frame 86 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,784,009...201,785,916
Ensembl chr 1:201,784,009...201,785,916
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G |
Cabp2 |
calcium binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469
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G |
Cabp4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
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G |
Capn1 |
calpain 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
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G |
Carns1 |
carnosine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,459,061...201,470,019
Ensembl chr 1:201,459,076...201,469,845
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G |
Catsper1 |
cation channel, sperm associated 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824
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G |
Ccdc85b |
coiled-coil domain containing 85B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,763,645...202,764,660
Ensembl chr 1:202,763,631...202,764,703
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G |
Ccdc87 |
coiled-coil domain containing 87 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,135,021...202,137,717
Ensembl chr 1:202,134,963...202,138,337
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G |
Ccnd1 |
cyclin D1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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G |
Ccs |
copper chaperone for superoxide dismutase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,113,792...202,134,931
Ensembl chr 1:202,113,804...202,134,915
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G |
Cd248 |
CD248 molecule |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,373,676...202,376,240
Ensembl chr 1:202,373,676...202,376,240
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G |
Cdc42ep2 |
CDC42 effector protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897
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G |
Cdk2ap2 |
cyclin-dependent kinase 2 associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,391,056...201,393,137
Ensembl chr 1:201,391,466...201,393,137
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G |
Cfl1 |
cofilin 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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G |
Chka |
choline kinase alpha |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516
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G |
Clcf1 |
cardiotrophin-like cytokine factor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
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G |
Cnih2 |
cornichon family AMPA receptor auxiliary protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,399,416...202,405,110
Ensembl chr 1:202,399,419...202,405,089
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G |
Coro1b |
coronin 1B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,442,977...201,448,416
Ensembl chr 1:201,443,014...201,448,416
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G |
Cpt1a |
carnitine palmitoyltransferase 1A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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G |
Cst6 |
cystatin E/M |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
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G |
Ctsf |
cathepsin F |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525
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G |
Ctsw |
cathepsin W |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,772,395...202,777,021
Ensembl chr 1:202,772,572...202,775,964
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G |
Dpf2 |
double PHD fingers 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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G |
Dpp3 |
dipeptidylpeptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541
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G |
Drap1 |
Dr1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425
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G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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G |
Ehbp1l1 |
EH domain binding protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270
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G |
Eif1ad |
eukaryotic translation initiation factor 1A domain containing |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658
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G |
Fadd |
Fas associated via death domain |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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G |
Fam89b |
family with sequence similarity 89, member B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367
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G |
Fgf19 |
fibroblast growth factor 19 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287
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G |
Fgf3 |
fibroblast growth factor 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187
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G |
Fgf4 |
fibroblast growth factor 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,023,937...200,027,793
Ensembl chr 1:200,024,056...200,025,466
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G |
Fibp |
FGF1 intracellular binding protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
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G |
Fosl1 |
FOS like 1, AP-1 transcription factor subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
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G |
Frmd8 |
FERM domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870
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G |
Gal |
galanin and GMAP prepropeptide |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959
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G |
Gal3st3 |
galactose-3-O-sulfotransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,593,635...202,603,446
Ensembl chr 1:202,593,692...202,603,445
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G |
Gpr152 |
G protein-coupled receptor 152 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,435,878...201,438,373
Ensembl chr 1:201,435,884...201,437,443
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G |
Grk2 |
G protein-coupled receptor kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Ighmbp2 |
immunoglobulin mu DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
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G |
Kat5 |
lysine acetyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600438 |
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NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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G |
Kcnk7 |
potassium two pore domain channel subfamily K member 7 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872
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G |
Kdm2a |
lysine demethylase 2A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,612,427...201,682,359
Ensembl chr 1:201,612,453...201,680,787
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G |
Klc2 |
kinesin light chain 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
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G |
Kmt5b |
lysine methyltransferase 5B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819
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G |
Lrfn4 |
leucine rich repeat and fibronectin type III domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,888,569...201,891,861
Ensembl chr 1:201,888,569...201,891,861
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G |
Lrp5 |
LDL receptor related protein 5 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
Lto1 |
LTO1 maturation factor of ABCE1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,074,247...200,080,951
Ensembl chr 1:200,074,253...200,088,061
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G |
Map3k11 |
mitogen-activated protein kinase kinase kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652
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G |
Mrgprd |
MAS related GPR family member D |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,479,204...200,487,902
Ensembl chr 1:200,485,189...200,486,148
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G |
Mrgprf |
MAS related GPR family member F |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,464,100...200,473,588
Ensembl chr 1:200,463,973...200,473,660
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G |
mrpl11 |
mitochondrial ribosomal protein L11 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756
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G |
Mrpl21 |
mitochondrial ribosomal protein L21 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,529,416...200,542,568
Ensembl chr 1:200,529,416...200,537,896
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G |
Mus81 |
MUS81 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
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G |
Ndufs8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511
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G |
Ndufv1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466
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G |
Npas4 |
neuronal PAS domain protein 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724
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G |
Nudt8 |
nudix hydrolase 8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,293,660...201,295,233
Ensembl chr 1:201,292,619...201,295,224
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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 |
|
NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
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G |
Pacs1 |
phosphofurin acidic cluster sorting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
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G |
Pc |
pyruvate carboxylase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
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G |
Pcnx3 |
pecanex 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561
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G |
Peli3 |
pellino E3 ubiquitin protein ligase family member 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857
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G |
Pitpnm1 |
phosphatidylinositol transfer protein, membrane-associated 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,394,099...201,407,523
Ensembl chr 1:201,394,149...201,407,522
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G |
Pola2 |
DNA polymerase alpha 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348
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G |
Pold4 |
DNA polymerase delta 4, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,526,591...201,528,406
Ensembl chr 1:201,526,665...201,528,401
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G |
Ppp1ca |
protein phosphatase 1 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,485,117...201,488,734
Ensembl chr 1:201,485,085...201,497,327
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G |
Ppp6r3 |
protein phosphatase 6, regulatory subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:200,693,128...200,807,578
Ensembl chr 1:200,693,440...200,807,548
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G |
Ptprcap |
protein tyrosine phosphatase, receptor type, C-associated protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,449,133...201,451,293
Ensembl chr 1:201,449,113...201,451,288
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G |
Rab1b |
RAB1B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...202,413,868 Ensembl chr X:202,405,759...202,413,868
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G |
Rad9a |
RAD9 checkpoint clamp component A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,488,511...201,553,582
Ensembl chr 1:201,487,136...201,553,608
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G |
Rbm14 |
RNA binding motif protein 14 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,076,940...202,105,688
Ensembl chr 1:202,078,287...202,105,665 Ensembl chr 1:202,078,287...202,105,665
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G |
Rbm4 |
RNA binding motif protein 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,078,442...202,087,506
Ensembl chr 1:202,085,279...202,105,380
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G |
Rbm4b |
RNA binding motif protein 4B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,047,934...202,058,025
Ensembl chr 1:202,047,927...202,058,020
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G |
Rce1 |
Ras converting CAAX endopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,899,358...201,902,593
Ensembl chr 1:201,899,358...201,902,484
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
Rhod |
ras homolog family member D |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,708,699...201,724,405
Ensembl chr 1:201,708,699...201,722,632
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G |
Rin1 |
Ras and Rab interactor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:21177854 PMID:23322642 PMID:24183309 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28600438 PMID:28739201 PMID:29150899 PMID:29239743 PMID:29389947 PMID:30315573 PMID:31130681 PMID:31529068 PMID:32404165 PMID:34008892 PMID:34055681 PMID:34302356 PMID:36585007 PMID:37092250 More...
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NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516
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G |
Rps6kb2 |
ribosomal protein S6 kinase B2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:201,451,265...201,458,096
Ensembl chr 1:201,451,265...201,458,078
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G |
Sart1 |
spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136
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G |
Scyl1 |
SCY1 like pseudokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
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G |
Sf3b2 |
splicing factor 3b, subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
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G |
Sipa1 |
signal-induced proliferation-associated 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
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G |
Slc25a45 |
solute carrier family 25, member 45 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473
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G |
Slc29a2 |
solute carrier family 29 member 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171
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G |
Snx32 |
sorting nexin 32 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 1:202,801,090...202,818,731
Ensembl chr 1:202,802,394...202,818,743
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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 chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
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G |
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 chr 1:201,557,167...201,565,577
Ensembl chr 1:201,557,169...201,564,753
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G |
Syt12 |
synaptotagmin 12 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:201,729,307...201,760,192
Ensembl chr 1:201,730,371...201,759,609
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G |
Tbc1d10c |
TBC1 domain family, member 10C |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:201,476,258...201,484,876
Ensembl chr 1:201,477,157...201,564,920
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G |
Tbx10 |
T-box transcription factor 10 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:201,285,729...201,292,676
Ensembl chr 1:201,279,829...201,292,601
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G |
Tcirg1 |
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
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G |
Tesmin |
testis expressed metallothionein like protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:200,629,688...200,648,434
Ensembl chr 1:200,630,144...200,648,433
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G |
Tigd3 |
tigger transposable element derived 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272
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G |
Tmem134 |
transmembrane protein 134 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:201,419,225...201,424,778
Ensembl chr 1:201,419,264...201,431,411
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G |
Tmem151a |
transmembrane protein 151A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182
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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 chr 1:201,902,564...201,989,945
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G |
Tpcn2 |
two pore segment channel 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:200,416,538...200,446,252
Ensembl chr 1:200,416,540...200,446,236
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G |
Tsga10ip |
testis specific 10 interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:202,700,576...202,714,668
Ensembl chr 1:202,700,578...202,714,798
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G |
Unc93b1 |
unc-93 homolog B1, TLR signaling regulator |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338
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G |
Yif1a |
Yip1 interacting factor homolog A, membrane trafficking protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427
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G |
Zdhhc24 |
zinc finger, DHHC-type containing 24 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880
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G |
Znrd2 |
zinc ribbon domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465
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G |
Best2 |
bestrophin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,142,324...23,148,351
Ensembl chr19:23,141,602...23,148,339
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID: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 chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Calr |
calreticulin |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID: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 chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Dand5 |
DAN domain BMP antagonist family member 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID: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 chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
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G |
Dhps |
deoxyhypusine synthase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID: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 chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
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G |
Dnase2 |
deoxyribonuclease 2, lysosomal |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID: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 chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376
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G |
Farsa |
phenylalanyl-tRNA synthetase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID: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 chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
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G |
Fbxw9 |
F-box and WD repeat domain containing 9 |
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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 chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
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G |
Gadd45gip1 |
GADD45G interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID: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 chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
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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 chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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G |
Get3 |
guided entry of tail-anchored proteins factor 3, ATPase |
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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 chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
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G |
Hook2 |
hook microtubule-tethering protein 2 |
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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 chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
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G |
Ier2 |
immediate early response 2 |
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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 chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
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G |
Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
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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 chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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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 chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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G |
Lyl1 |
LYL1, basic helix-loop-helix family member |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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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 chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
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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 chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
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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 chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
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G |
Nfix |
nuclear factor I X |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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G |
Prdx2 |
peroxiredoxin 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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G |
Rad23a |
RAD23 homolog A, nucleotide excision repair protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 PMID:16199547 PMID:16602100 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19486177 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25500883 PMID:25604658 PMID:25735478 PMID:25741868 PMID:26182405 PMID:26467025 PMID:27250579 PMID:27943079 PMID:28492532 PMID:28600779 PMID:28739201 PMID:29239743 PMID:31069529 PMID:31130284 PMID:31130681 PMID:31529068 PMID:33165593 PMID:33707687 PMID:35551623 PMID:36430958 PMID:37626525 More...
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NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
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G |
Rtbdn |
retbindin |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
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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 chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
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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 chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
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G |
Trir |
telomerase RNA component interacting RNase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510
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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 chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956
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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 chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563
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G |
Wdr83os |
WD repeat domain 83 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894
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G |
Blcap |
BLCAP, apoptosis inducing factor |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:146,222,699...146,232,859
Ensembl chr 3:146,222,240...146,232,909
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G |
Ctnnbl1 |
catenin, beta like 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:146,387,940...146,548,987
Ensembl chr 3:146,387,889...146,548,987
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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 chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
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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 chr 3:146,035,082...146,064,676
Ensembl chr 3:146,035,066...146,064,676
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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 chr 3:145,873,995...145,942,439
Ensembl chr 3:145,873,996...145,942,319
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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 chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834
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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 chr 3:145,806,160...145,869,434
Ensembl chr 3:145,807,095...145,869,330
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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 chr 3:145,941,787...145,989,271
Ensembl chr 3:145,941,839...145,989,543
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G |
Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:21402907 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24300241 PMID:24316776 PMID:24989684 PMID:25604658 PMID:25640679 PMID:25741868 PMID:26273690 PMID: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 More...
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NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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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 chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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G |
Tldc2 |
TBC/LysM-associated domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
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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 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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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:16199547 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:28319323 PMID:28475458 PMID:28492532 PMID:28605144 PMID:28716935 PMID:29782060 PMID:30219631 PMID:30593198 PMID:30965144 PMID:31178897 PMID:31898846 PMID:34185153 PMID:34539730 PMID:35754802 More...
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NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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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 chr10:30,367,841...30,385,956
Ensembl chr10:30,370,727...30,385,944
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G |
Grcc10 |
gene rich cluster, C10 gene |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 |
ClinVar |
PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 |
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NCBI chr 4:157,551,276...157,552,924
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G |
Gnas |
GNAS complex locus |
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ISO ISS |
ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A OMIM:103580 DNA:deletions:exon:multiple DNA:splice-site mutation |
OMIM ClinVar MouseDO RGD |
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 PMID:3720010 PMID:8072545 PMID:8388883 PMID:8702665 PMID:9159128 PMID:9727013 PMID:9876352 PMID:10571700 PMID:10980525 PMID:11092390 PMID:11093740 PMID:11412411 PMID:11450852 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15711092 PMID:15952988 PMID:16507630 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21525160 PMID:21835143 PMID:23281139 PMID:23403822 PMID:23533243 PMID:23536913 PMID:23796510 PMID:23843956 PMID:23884777 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:24855271 PMID:24914079 PMID:24982418 PMID:25044890 PMID:25157968 PMID:25219572 PMID:25719192 PMID:25741868 PMID:25802881 PMID:26341786 PMID:26574629 PMID:26619011 PMID:26633545 PMID:27398169 PMID:27506760 PMID:27703483 PMID:28492532 PMID:28708303 PMID:29059381 PMID:29072892 PMID:29095814 PMID:29379892 PMID:29628140 PMID:29970488 PMID:29991465 PMID:30349702 PMID:30674755 PMID:30702195 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:33270042 PMID:34008892 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 PMID:11095461 PMID:11600516 More...
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RGD:11568049, RGD:11568047 |
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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G |
Pthlh |
parathyroid hormone-like hormone |
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ISS |
OMIM:103580 |
MouseDO |
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NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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G |
Fam20a |
FAM20A, golgi associated secretory pathway pseudokinase |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction |
OMIM ClinVar |
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28086997 PMID:28492532 PMID:32246227 More...
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NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
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G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction |
ClinVar |
PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 PMID:32246227 More...
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NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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G |
Ager |
advanced glycosylation end product-specific receptor |
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IEP |
associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) |
RGD |
PMID:23497312 |
RGD:7244260 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Agt |
angiotensinogen |
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IDA |
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RGD |
PMID:23291307 |
RGD:8549476 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Atp5f1d |
ATP synthase F1 subunit delta |
treatment |
IEP |
associated with Hypercholesterolemia |
RGD |
PMID:26047104 |
RGD:11057945 |
NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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ISO |
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RGD |
PMID:15625282 |
RGD:13204716 |
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Grp |
gastrin releasing peptide |
treatment |
ISO |
associated with chronic kidney disease |
RGD |
PMID:32192106 |
RGD:329961569 |
NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061
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G |
Gsn |
gelsolin |
disease_progression |
ISO |
protein:decreased expression:blood (human) |
RGD |
PMID:26941566 |
RGD:329336117 |
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
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G |
Sod1 |
superoxide dismutase 1 |
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IEP |
associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta |
RGD |
PMID:25430697 |
RGD:11038653 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
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IEP |
associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta |
RGD |
PMID:25430697 |
RGD:11038653 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Vkorc1 |
vitamin K epoxide reductase complex, subunit 1 |
susceptibility |
IAGP |
DNA:missense mutation: :p.Y139C (416A>G) (rat) |
RGD |
PMID:19884975 |
RGD:2315841 |
NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Aortic valve disease 1 |
ClinVar |
PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 PMID:33737726 More...
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IEP |
mRNA:increased expression:aorta (rat) |
RGD |
PMID:22659116 |
RGD:12914785 |
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Gata5 |
GATA binding protein 5 |
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ISO |
ClinVar Annotator: match by term: Aortic valve disease 1 |
ClinVar |
PMID:28387797 PMID:28492532 PMID:30675029 |
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NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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G |
Il6 |
interleukin 6 |
severity |
ISO |
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RGD |
PMID:23969418 |
RGD:12792206 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Notch1 |
notch receptor 1 |
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ISO |
DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human) ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition |
ClinVar OMIM RGD |
PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:19245433 PMID:19635999 PMID:20007775 PMID:20951801 PMID:20981092 PMID:21457232 PMID:21670202 PMID:22077063 PMID:22210878 PMID:22858860 PMID:23086750 PMID:23578328 PMID:23734977 PMID:23798201 PMID:24033266 PMID:24418111 PMID:24728327 PMID:24943832 PMID:25104330 PMID:25132448 PMID:25260786 PMID:25326637 PMID:25500235 PMID:25587027 PMID:25741868 PMID:25907466 PMID:25931334 PMID:25963545 PMID:26188975 PMID:26580448 PMID:26699486 PMID:26708639 PMID:26820064 PMID:26837699 PMID:26893459 PMID:27283355 PMID:27760138 PMID:27854218 PMID:27989580 PMID:27993330 PMID:28074886 PMID:28387797 PMID:28492532 PMID:28963436 PMID:28991257 PMID:29641532 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30255099 PMID:30511478 PMID:30582441 PMID:30609409 PMID:30675029 PMID:31624253 PMID:31633846 PMID:31654484 PMID:31866570 PMID:32154576 PMID:32748548 PMID:33064175 PMID:33110418 PMID:33208564 PMID:33726816 PMID:33914609 PMID:33994118 PMID:34498425 PMID:35101336 PMID:35288444 PMID:36973604 PMID:16025100 More...
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RGD:1580758 |
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Smad6 |
SMAD family member 6 |
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ISO |
ClinVar Annotator: match by term: Aortic valve disease 1 |
ClinVar |
PMID:28492532 PMID:30796334 |
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NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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G |
Tbx20 |
T-box transcription factor 20 |
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ISO |
ClinVar Annotator: match by term: Aortic valve disease 1 |
ClinVar |
PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 PMID:30820038 More...
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NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
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G |
Abcc6 |
ATP binding cassette subfamily C member 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25758222 |
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NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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ISO ISS |
DNA:missense mutations:cds:p.G342V, p.Y371F (human) ClinVar Annotator: match by term: Idiopathic infantile arterial calcification OMIM:208000 | OMIM:614473 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.V246D (mouse) DNA:mutations:multiple (human) DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human) |
ClinVar MouseDO CTD RGD |
PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:16025115 PMID:16315058 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:19206175 PMID:20016754 PMID:20137773 PMID:20981035 PMID:22209248 PMID:22539483 PMID:24033266 PMID:25741868 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:28973083 PMID:29141319 PMID:29244957 PMID:29979387 PMID:33005041 PMID:34609116 PMID:35738466 PMID:15940697 PMID:23798568 PMID:20016754 PMID:12881724 More...
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RGD:1601044, RGD:13204734, RGD:6906932, RGD:731203 |
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Amelx |
amelogenin, X-linked |
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IEP |
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RGD |
PMID:15721149 |
RGD:1599092 |
NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
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G |
Bglap |
bone gamma-carboxyglutamate protein |
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IEP |
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RGD |
PMID:2106357 |
RGD:6483581 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
Casr |
calcium-sensing receptor |
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ISO |
DNA:missense mutation:cds:p.E128A (human) ClinVar Annotator: match by term: Autosomal dominant hypocalcemia DNA:missense mutation:cds:p.T151M (human) DNA:missense mutation:cds:p.L723Q (mouse) DNA:missense mutations:cds:multiple (human) |
ClinVar RGD |
PMID:8675635 PMID:8878438 PMID:9039332 PMID:11136551 PMID:11701698 PMID:12067826 PMID:12574188 PMID:12733714 PMID:14519094 PMID:17039419 PMID:17698911 PMID:19179454 PMID:20119591 PMID:20668040 PMID:21645025 PMID:22422767 PMID:22789683 PMID:22798347 PMID:24133354 PMID:24297799 PMID:24823460 PMID:24948345 PMID:25137426 PMID:25420019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:29846619 PMID:30470382 PMID:30496603 PMID:34913197 PMID:7874174 PMID:20501971 PMID:15347804 PMID:8813042 More...
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RGD:1598940, RGD:7205656, RGD:7205497, RGD:7204717 |
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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G |
Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
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ISO |
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RGD |
PMID:11416220 |
RGD:734871 |
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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G |
Pth |
parathyroid hormone |
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IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:22581996 |
RGD:7242904 |
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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G |
Casr |
calcium-sensing receptor |
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ISS ISO |
OMIM:601198 ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL |
MouseDO OMIM ClinVar |
PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8675635 PMID:8698326 PMID:8702647 PMID:8733126 PMID:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9253358 PMID:9380434 PMID:9422777 PMID:9536098 PMID:9661634 PMID:9920108 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10487661 PMID:10770217 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10971459 PMID:11013439 PMID:11089548 PMID:11102444 PMID:11136551 PMID:11152759 PMID:11161843 PMID:11248745 PMID:11580999 PMID:11701698 PMID:11733622 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12050233 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12162500 PMID:12191970 PMID:12239240 PMID:12241879 PMID:12297503 PMID:12574188 PMID:12574201 PMID:12733714 PMID:12890593 PMID:12915654 PMID:14508624 PMID:14519094 PMID:14985373 PMID:14997007 PMID:15201280 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16128246 PMID:16333828 PMID:16497624 PMID:16608894 PMID:16649980 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17576681 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18938753 PMID:19179454 PMID:19389809 PMID:19694204 PMID:19759318 PMID:19779033 PMID:20119591 PMID:20164288 PMID:20495831 PMID:20501971 PMID:20602573 PMID:20668040 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21441391 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22142470 PMID:22192860 PMID:22422767 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23169696 PMID:23186954 PMID:23372019 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24244430 PMID:24297799 PMID:24517148 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25137426 PMID:25292184 PMID:25326635 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26323216 PMID:26467025 PMID:26646938 PMID:26963950 PMID:27157104 PMID:27390877 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29846619 PMID:29848507 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:31763346 PMID:31883284 PMID:32306059 PMID:32347971 PMID:32386559 PMID:32430905 PMID:33112267 PMID:34008892 PMID:34088669 PMID:34913197 PMID:35242665 PMID:35300448 PMID:35402765 PMID:35818129 PMID:36090548 PMID:36135330 PMID:37654565 More...
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NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Gna11 |
G protein subunit alpha 11 |
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ISO ISS |
OMIM:615361 ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 |
OMIM MouseDO ClinVar |
PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 PMID:26994139 PMID:28194446 PMID:28492532 More...
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NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812
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Casr |
calcium-sensing receptor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome |
CTD ClinVar |
PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:24297799 PMID:25506941 PMID:25741868 PMID:25967373 PMID:28492532 More...
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NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Fgf23 |
fibroblast growth factor 23 |
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ISO ISS |
DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human) OMIM:193100 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT DNA:missense mutation:cds:526C>T,p.R176W (human) |
MouseDO CTD ClinVar OMIM RGD |
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 PMID:12130585 PMID:12711740 PMID:12851820 PMID:12874285 PMID:15182416 PMID:15590700 PMID:15628294 PMID:15836777 PMID:15885032 PMID:16436388 PMID:17227222 PMID:17452648 PMID:17623664 PMID:17992255 PMID:18682534 PMID:18982401 PMID:21880793 PMID:22419710 PMID:24033266 PMID:25445451 PMID:25741868 PMID:26186302 PMID:26467025 PMID:28492532 PMID:31486862 PMID:32415663 PMID:35738466 PMID:11062477 PMID:19655082 More...
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RGD:1598933, RGD:10044239 |
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Phex |
phosphate regulating endopeptidase X-linked |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets |
ClinVar |
PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 PMID:16055933 PMID:19219621 PMID:21902834 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32329911 More...
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NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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Dmp1 |
dentin matrix acidic phosphoprotein 1 |
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ISO ISS |
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive OMIM:241520 | OMIM:613312 |
ClinVar MouseDO |
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NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive |
ClinVar |
PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Pdgfrb |
platelet derived growth factor receptor beta |
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ISS |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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G |
Slc20a2 |
solute carrier family 20 member 2 |
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ISS |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23308213 |
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NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Cd40lg |
CD40 ligand |
treatment |
IDA |
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RGD |
PMID:24374105 |
RGD:11352276 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Dll4 |
delta like canonical Notch ligand 4 |
ameliorates |
ISO |
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RGD |
PMID:22699504 |
RGD:155641244 |
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
severity |
ISO |
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RGD |
PMID:15120829 |
RGD:12910476 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Meis2 |
Meis homeobox 2 |
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ISO |
mRNA,protein:decreased expression:aortic valve: |
RGD |
PMID:30594396 |
RGD:155598679 |
NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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G |
Notch1 |
notch receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16025100 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
disease_progression |
ISO |
protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells |
RGD |
PMID:25722432 PMID:25722432 |
RGD:13207434, RGD:13207434 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Pth |
parathyroid hormone |
disease_progression |
IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:22634235 |
RGD:7242900 |
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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G |
Ptpn1 |
protein tyrosine phosphatase, non-receptor type 1 |
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ISO |
protein:increased expression:aortic valve (human) |
RGD |
PMID:35958694 |
RGD:401976381 |
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
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G |
Slc20a1 |
solute carrier family 20 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23308213 |
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NCBI chr 3:116,427,095...116,441,049
Ensembl chr 3:116,427,098...116,441,051
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29358327 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Ahsg |
alpha-2-HS-glycoprotein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16177000 |
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NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999
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G |
Alpl |
alkaline phosphatase, biomineralization associated |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21193197 |
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NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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G |
Bglap |
bone gamma-carboxyglutamate protein |
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ISO |
associated with hypertension;protein:undercarboxylated:serum CTD Direct Evidence: marker/mechanism protein:increased expression:dermis: |
CTD RGD |
PMID:21335463 PMID:20197689 PMID:18422975 |
RGD:6483566, RGD:9068449 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
Bmp2 |
bone morphogenetic protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30963258 PMID:31843813 |
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NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISO |
protein:increased expression:dermis: |
RGD |
PMID:18422975 |
RGD:9068449 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
C6 |
complement C6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275
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G |
Casp3 |
caspase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21193197 PMID:21335463 |
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NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl9 |
C-C motif chemokine ligand 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr10:68,366,486...68,371,408
Ensembl chr10:68,366,487...68,371,369
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Ctc1 |
CST telomere replication complex component 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22267198 |
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
protein:increased expression:dermis: |
RGD |
PMID:18422975 |
RGD:9068449 |
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Dmd |
dystrophin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18340010 |
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NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G |
Epo |
erythropoietin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12148126 |
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NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
associated with Breast Neoplasms;protein:increased expression:breast |
RGD |
PMID:18256879 |
RGD:2289923 |
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
Fcgr1a |
Fc gamma receptor 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
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G |
Fgf23 |
fibroblast growth factor 23 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17710231 |
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NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17710231 |
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Gpx1 |
glutathione peroxidase 1 |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) |
RGD |
PMID:17825092 |
RGD:2306608 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Il18 |
interleukin 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Itgb1 |
integrin subunit beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18340010 |
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NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
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G |
Itgb2 |
integrin subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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G |
Jak2 |
Janus kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Kl |
Klotho |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17710231 |
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NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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G |
Lcn2 |
lipocalin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Lsp1 |
lymphocyte-specific protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416
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G |
Ly86 |
lymphocyte antigen 86 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr17:27,415,807...27,499,695
Ensembl chr17:27,415,830...27,487,260
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G |
Mgp |
matrix Gla protein |
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ISO |
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RGD |
PMID:15045141 |
RGD:1582501 |
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15545515 PMID:21193197 |
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NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15545515 PMID:21193197 |
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NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Notch1 |
notch receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22110751 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Nr1i2 |
nuclear receptor subfamily 1, group I, member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30963258 |
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NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
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NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6143199 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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G |
Pycard |
PYD and CARD domain containing |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
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G |
Ripk3 |
receptor-interacting serine-threonine kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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G |
Slc20a2 |
solute carrier family 20 member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
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NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
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G |
Slc22a6 |
solute carrier family 22 member 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12803500 |
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NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173
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G |
Snai2 |
snail family transcriptional repressor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29358327 |
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NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200
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G |
Sparc |
secreted protein acidic and cysteine rich |
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ISO |
protein:increased expression:dermis: |
RGD |
PMID:18422975 |
RGD:9068449 |
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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G |
Spn |
sialophorin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
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G |
Spp1 |
secreted phosphoprotein 1 |
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IEP ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:dermis: |
CTD RGD |
PMID:21193197 PMID:21335463 PMID:18390899 PMID:18422975 |
RGD:6903869, RGD:9068449 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24142982 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24142982 |
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NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30963258 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29358327 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Xpr1 |
xenotropic and polytropic retrovirus receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
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NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946
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G |
Ctc1 |
CST telomere replication complex component 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coats plus syndrome |
CTD ClinVar |
PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 PMID:30891747 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Stn1 |
STN1 subunit of CST complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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G |
Ctc1 |
CST telomere replication complex component 1 |
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ISO |
ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25197929 PMID:25741868 PMID:25843205 PMID:28492532 PMID:28864049 PMID:29111009 PMID:29146883 PMID:29228254 PMID:29481669 PMID:30523342 PMID:30891747 PMID:33510405 PMID:34573280 PMID:34706368 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Pfas |
phosphoribosylformylglycinamidine synthase |
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ISO |
ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
ClinVar |
PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 PMID:29481669 More...
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NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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G |
Stn1 |
STN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 |
OMIM ClinVar |
PMID:25741868 PMID:27432940 PMID:28492532 |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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G |
Pot1 |
protection of telomeres 1 |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 |
ClinVar OMIM |
PMID:27013236 PMID:28492532 |
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NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION |
ClinVar OMIM |
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:16025115 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:19380683 PMID:20016754 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:24075184 PMID:25741868 PMID:27238374 PMID:28377967 PMID:28492532 PMID:29979387 PMID:35738466 More...
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NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Phactr1 |
phosphatase and actin regulator 1 |
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ISO |
DNA:SNP:intron:g.13011943A>G (rs9349379) (human) associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human) DNA:SNP:intron: (rs12526453) (human) |
RGD |
PMID:23394302 PMID:34241534 PMID:26789557 PMID:23561647 |
RGD:11058683, RGD:401901247, RGD:11054804, RGD:11057923 |
NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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Tnfrsf11b |
TNF receptor superfamily member 11B |
severity |
ISO |
associated with Kidney Failure, Chronic |
RGD |
PMID:22943310 |
RGD:7205482 |
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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G |
Cenpc |
centromere protein C |
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ISO |
associated with Anticentromere antibody positivity |
RGD |
PMID:25220385 |
RGD:27372886 |
NCBI chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476
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G |
Fbn1 |
fibrillin 1 |
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ISO |
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RGD |
PMID:10395706 |
RGD:12910471 |
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Slc29a1 |
solute carrier family 29 member 1 |
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ISS |
OMIM:106400 |
MouseDO |
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NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
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G |
Adcy5 |
adenylate cyclase 5 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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G |
Casr |
calcium-sensing receptor |
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ISO |
ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis |
ClinVar |
PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2476381 PMID:2983592 PMID:3237971 PMID:3966479 PMID:6543841 PMID:7054696 PMID:7673400 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8132750 PMID:8636323 PMID:8675635 PMID:8698326 PMID:8702647 PMID:8733126 PMID:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9217223 PMID:9253359 PMID:9380434 PMID:9395465 PMID:9422777 PMID:9507434 PMID:9536098 PMID:9661634 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10971459 PMID:11013439 PMID:11089548 PMID:11102444 PMID:11136551 PMID:11161843 PMID:11231970 PMID:11248745 PMID:11580999 PMID:11668634 PMID:11701698 PMID:11733622 PMID:11762699 PMID:11763315 PMID:11807402 PMID:11889154 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12162500 PMID:12191970 PMID:12239240 PMID:12241879 PMID:12297503 PMID:12469911 PMID:12574188 PMID:12574201 PMID:12580936 PMID:12733714 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14519094 PMID:14714270 PMID:14985373 PMID:14997007 PMID:15201280 PMID:15241688 PMID:15292296 PMID:15531522 PMID:15551332 PMID:15572418 PMID:15579740 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:15963484 PMID:16128246 PMID:16147994 PMID:16199547 PMID:16333828 PMID:16491288 PMID:16497624 PMID:16598859 PMID:16642557 PMID:16649980 PMID:16740594 PMID:16918956 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17121537 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17576681 PMID:17698911 PMID:17803689 PMID:17974727 PMID:17979873 PMID:18219222 PMID:18296474 PMID:18328986 PMID:18410554 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18830196 PMID:18887540 PMID:18938753 PMID:19073830 PMID:19102677 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19549694 PMID:19694204 PMID:19759318 PMID:19763152 PMID:19779033 PMID:19789209 PMID:19953642 PMID:20034274 PMID:20119591 PMID:20164288 PMID:20307669 PMID:20335782 PMID:20335783 PMID:20374733 PMID:20495831 PMID:20501971 PMID:20602573 PMID:20668040 PMID:20697181 PMID:20798521 PMID:20972686 PMID:21135065 PMID:21175100 PMID:21185797 PMID:21239511 PMID:21289269 PMID:21310873 PMID:21369680 PMID:21414629 PMID:21441391 PMID:21471599 PMID:21521328 PMID:21645025 PMID:21844754 PMID:22024717 PMID:22142470 PMID:22187299 PMID:22192860 PMID:22232026 PMID:22331334 PMID:22406018 PMID:22422767 PMID:22620673 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23081733 PMID:23169696 PMID:23186954 PMID:23372019 PMID:23764372 PMID:23856262 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24244430 PMID:24297799 PMID:24394414 PMID:24517148 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25039540 PMID:25045523 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25320261 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 PMID:25766501 PMID:25792032 PMID:25828954 PMID:25967373 PMID:25977473 PMID:25985138 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26290606 PMID:26323216 PMID:26467025 PMID:26646938 PMID:26855056 PMID:26963950 PMID:27086061 PMID:27157104 PMID:27390877 PMID:27418061 PMID:27434672 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:28870973 PMID:29026550 PMID:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30895164 PMID:31063613 PMID:31189130 PMID:31328266 PMID:31433865 PMID:31433868 PMID:31672324 PMID:31763346 PMID:31883284 PMID:31967040 PMID:32150253 PMID:32160303 PMID:32306059 PMID:32347971 PMID:32375028 PMID:32386559 PMID:32430905 PMID:32537548 PMID:32593617 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32871939 PMID:32892159 PMID:33094630 PMID:33112267 PMID:33147586 PMID:33258288 PMID:33434173 PMID:33748353 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34194040 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35402765 PMID:35586626 PMID:35733207 PMID:35818129 PMID:36090548 PMID:36135330 PMID:37654565 PMID:38214877 PMID:38544324 PMID:38586466 More...
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NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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G |
Ccdc14 |
coiled-coil domain containing 14 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956
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G |
Cd86 |
CD86 molecule |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Csta |
cystatin A |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:11807402 PMID:20798521 PMID:28492532 |
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NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
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G |
Dtx3l |
deltex E3 ubiquitin ligase 3L |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:64,814,926...64,824,539
Ensembl chr11:64,814,926...64,824,538
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G |
Eaf2 |
ELL associated factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
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G |
Fam162a |
family with sequence similarity 162, member A |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:64,680,978...64,709,865
Ensembl chr11:64,680,323...64,711,239
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G |
Grhpr |
glyoxylate and hydroxypyruvate reductase |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
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G |
Hacd2 |
3-hydroxyacyl-CoA dehydratase 2 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889
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G |
Heg1 |
heart development protein with EGF-like domains 1 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis |
ClinVar |
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532 |
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NCBI chr X:132,736,175...132,768,149
Ensembl chr X:132,736,096...132,768,154
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G |
Hspbap1 |
HSPB1 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756
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G |
Ildr1 |
immunoglobulin-like domain containing receptor 1 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
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G |
Iqcb1 |
IQ motif containing B1 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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G |
Itgb5 |
integrin subunit beta 5 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
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G |
Kalrn |
kalirin, RhoGEF kinase |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
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G |
Kpna1 |
karyopherin subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623
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G |
Mix23 |
mitochondrial matrix import factor 23 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000
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G |
Muc13 |
mucin 13, cell surface associated |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727
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G |
Mylk |
myosin light chain kinase |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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G |
Ocrl |
OCRL, inositol polyphosphate-5-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis |
ClinVar |
PMID:19390221 PMID:21031565 PMID:22381590 PMID:23047739 PMID:25326635 PMID:25480730 PMID:25741868 PMID:26694549 PMID:28492532 PMID:34586410 PMID:35006361 More...
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NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362
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G |
Osbpl11 |
oxysterol binding protein-like 11 |
|
ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444
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G |
Parp14 |
poly (ADP-ribose) polymerase family, member 14 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916
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G |
Parp9 |
poly (ADP-ribose) polymerase family, member 9 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455
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G |
Pdia5 |
protein disulfide isomerase family A, member 5 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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G |
Ropn1 |
rhophilin associated tail protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148
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G |
Sec22a |
SEC22 homolog A, vesicle trafficking protein |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319
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G |
Sema5b |
semaphorin 5B |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:65,102,532...65,225,456
Ensembl chr11:65,102,031...65,225,311
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G |
Slc12a8 |
solute carrier family 12, member 8 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834
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G |
Slc15a2 |
solute carrier family 15 member 2 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225
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G |
Slc49a4 |
solute carrier family 49 member 4 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926
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G |
Snx4 |
sorting nexin 4 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174
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G |
Umps |
uridine monophosphate synthetase |
|
ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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G |
Wdr5b |
WD repeat domain 5B |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807
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G |
Zfp148 |
zinc finger protein 148 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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G |
Casr |
calcium-sensing receptor |
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ISO ISS |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 OMIM:145980 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.A213E (human) DNA:missense mutations:cds:multiple (human) DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 PMID:3237971 PMID:3966479 PMID:5013415 PMID:6543841 PMID:7054696 PMID:7673400 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8132750 PMID:8636323 PMID:8675635 PMID:8702647 PMID:8733126 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10971459 PMID:11013439 PMID:11102444 PMID:11136551 PMID:11161843 PMID:11231970 PMID:11248745 PMID:11580999 PMID:11668634 PMID:11701698 PMID:11733622 PMID:11762699 PMID:11763315 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12191970 PMID:12239240 PMID:12469911 PMID:12574201 PMID:12580936 PMID:12733714 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14714270 PMID:14985373 PMID:14997007 PMID:15201280 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15579740 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16147994 PMID:16199547 PMID:16491288 PMID:16497624 PMID:16598859 PMID:16642557 PMID:16740594 PMID:17018660 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17698911 PMID:17803689 PMID:17974727 PMID:17979873 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18830196 PMID:18887540 PMID:18938753 PMID:19073830 PMID:19102677 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19694204 PMID:19759318 PMID:19779033 PMID:20119591 PMID:20164288 PMID:20290361 PMID:20495831 PMID:20602573 PMID:20668040 PMID:20798521 PMID:20972686 PMID:21239511 PMID:21289269 PMID:21310873 PMID:21369680 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22142470 PMID:22192860 PMID:22232026 PMID:22331334 PMID:22422767 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23169696 PMID:23372019 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24947037 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25792032 PMID:25828954 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26467025 PMID:26646938 PMID:26855056 PMID:26963950 PMID:27086061 PMID:27157104 PMID:27434672 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29026550 PMID:29846619 PMID:29848507 PMID:30407919 PMID:30544257 PMID:30895164 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32430905 PMID:32537548 PMID:32638038 PMID:32761341 PMID:32892159 PMID:33112267 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34993031 PMID:35300448 PMID:35318962 PMID:35733207 PMID:36090548 PMID:36135330 PMID:38214877 PMID:38586466 PMID:7493018 PMID:21034470 PMID:7726161 PMID:7916660 More...
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RGD:7205436, RGD:7205499, RGD:7205440, RGD:1600616 |
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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G |
Gna11 |
G protein subunit alpha 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
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NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812
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G |
Ap2s1 |
adaptor related protein complex 2 subunit sigma 1 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1524075 PMID:9536098 PMID:17576681 PMID:20133464 PMID:23222959 PMID:24081735 PMID:24731014 PMID:25741868 PMID:26082470 PMID:27050234 PMID:27761240 PMID:27913609 PMID:28492532 PMID:29325022 PMID:29420171 PMID:31723423 More...
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NCBI chr 1:77,417,496...77,428,903
Ensembl chr 1:77,417,477...77,428,905
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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G |
Phex |
phosphate regulating endopeptidase X-linked |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets |
CTD ClinVar |
PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 PMID:11468271 PMID:12727977 PMID:18625346 PMID:18775977 PMID:24684036 PMID:25741868 PMID:28492532 PMID:29858904 More...
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NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
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ISO |
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT |
ClinVar |
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532 More...
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NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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G |
Prss1 |
serine protease 1 |
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ISO |
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT |
ClinVar |
PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 More...
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NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
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G |
Vdr |
vitamin D receptor |
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ISO |
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT |
ClinVar |
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9360557 PMID:9495519 PMID:9536098 PMID:10204116 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17576681 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19049339 PMID:19169476 PMID:19682379 PMID:20200114 PMID:21073129 PMID:21168462 PMID:21424181 PMID:21931507 PMID:22145479 PMID:23180655 PMID:24033266 PMID:24246681 PMID:24859502 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:29949513 PMID:30967742 PMID:31557081 PMID:35738466 PMID:37080976 More...
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NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Ccn2 |
cellular communication network factor 2 |
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ISO |
ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 |
ClinVar |
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NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 |
ClinVar OMIM |
PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11159191 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:15940697 PMID:16025115 PMID:16315058 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:17576681 PMID:18950909 PMID:19206175 PMID:19229237 PMID:20016754 PMID:20137773 PMID:20981035 PMID:22209248 PMID:22539483 PMID:23027977 PMID:23041369 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26857895 PMID:27238374 PMID:27467858 PMID:27467859 PMID:28377967 PMID:28492532 PMID:28973083 PMID:29141319 PMID:29244957 PMID:29979387 PMID:31444901 PMID:31805212 PMID:31826312 PMID:32573669 PMID:33005041 PMID:33465815 PMID:34609116 PMID:34633109 PMID:34906475 PMID:35276006 PMID:35475527 PMID:35482848 PMID:35738466 PMID:35854274 More...
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NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Enpp3 |
ectonucleotide pyrophosphatase/phosphodiesterase 3 |
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ISO |
ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 |
ClinVar |
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NCBI chr 1:20,563,700...20,635,044
Ensembl chr 1:20,563,697...20,635,041
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G |
Abcc6 |
ATP binding cassette subfamily C member 6 |
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ISO |
ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 |
OMIM ClinVar |
PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 PMID:11179012 PMID:11427982 PMID:11439001 PMID:11474653 PMID:11493310 PMID:11536079 PMID:11702217 PMID:11880368 PMID:12176944 PMID:12384774 PMID:12673275 PMID:12714611 PMID:14631379 PMID:15086542 PMID:15098239 PMID:15459974 PMID:15645653 PMID:15723264 PMID:15752294 PMID:15894595 PMID:16086317 PMID:16127278 PMID:16199547 PMID:16392638 PMID:16410789 PMID:16541094 PMID:16573612 PMID:16835894 PMID:16854481 PMID:17576681 PMID:17617515 PMID:17724214 PMID:18157818 PMID:18253096 PMID:18347285 PMID:18513494 PMID:18800149 PMID:19284998 PMID:19339160 PMID:19726431 PMID:19904211 PMID:20034067 PMID:20075945 PMID:20799350 PMID:20801516 PMID:20849526 PMID:21179111 PMID:21935449 PMID:22209248 PMID:23483032 PMID:23572048 PMID:23702584 PMID:24008425 PMID:24033266 PMID:24088041 PMID:24352041 PMID:25062064 PMID:25264593 PMID:25265166 PMID:25615550 PMID:25741868 PMID:26029710 PMID:26084751 PMID:26633545 PMID:26982014 PMID:27133371 PMID:27994049 PMID:28041643 PMID:28102862 PMID:28186352 PMID:28492532 PMID:28655553 PMID:28912966 PMID:29722917 PMID:29800625 PMID:30154241 PMID:30229859 PMID:30328268 PMID:30537162 PMID:30805891 PMID:31164056 PMID:32860008 PMID:32873932 PMID:33946315 PMID:34205333 PMID:34597610 PMID:34906475 PMID:36317459 More...
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NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia DNA:mutations:cds:multiple (human) |
OMIM ClinVar RGD |
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28492532 PMID:30448303 PMID:30518689 PMID:30561119 PMID:32827848 PMID:34567078 PMID:36307859 PMID:21327084 More...
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RGD:9588626 |
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
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G |
Jam3 |
junctional adhesion molecule 3 |
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ISO |
ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts |
OMIM ClinVar |
PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 PMID:32860008 More...
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NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
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G |
Nt5e |
5' nucleotidase, ecto |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73 | ClinVar Annotator: match by term: Calcification of joints and arteries | ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome |
OMIM CTD ClinVar |
PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 |
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NCBI chr 8:89,271,046...89,314,918
Ensembl chr 8:89,270,696...89,314,881
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
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ISO |
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum |
RGD |
PMID:22386825 |
RGD:7205494 |
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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G |
Pth |
parathyroid hormone |
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ISO |
protein:decreased expression:plasma (mouse) |
RGD |
PMID:19570882 |
RGD:7242924 |
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO ISS |
OMIM:241530 DNA:deletions, snps:multiple (human) |
MouseDO RGD |
PMID:19570882 PMID:16358215 |
RGD:7242924, RGD:7242925 |
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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G |
Slc34a3 |
solute carrier family 34 member 3 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 PMID:16849419 PMID:17576681 PMID:18480181 PMID:18523928 PMID:18996815 PMID:19820004 PMID:20074341 PMID:21344632 PMID:22159077 PMID:22387237 PMID:24033266 PMID:24176905 PMID:24246249 PMID:25741868 PMID:26399350 PMID:26789268 PMID:28492532 PMID:29505567 PMID:29809158 PMID:30798342 PMID:31440709 PMID:31672324 PMID:32524022 PMID:32963591 PMID:33223529 PMID:33226606 PMID:33532864 PMID:34633109 PMID:34805638 PMID:35689455 PMID:36596813 PMID:36699160 PMID:38586466 More...
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NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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G |
Calca |
calcitonin-related polypeptide alpha |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1115441 PMID:12637657 |
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NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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G |
Calcr |
calcitonin receptor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18627265 |
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NCBI chr 4:31,661,270...31,736,392
Ensembl chr 4:31,661,273...31,736,392
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G |
Casr |
calcium-sensing receptor |
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ISO |
ClinVar Annotator: match by term: Hypercalcemia CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.R990G, p.E1011Q (human) |
ClinVar CTD RGD |
PMID:8675635 PMID:8878438 PMID:9011580 PMID:15591042 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:31672324 PMID:12671052 PMID:20602573 More...
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RGD:734698, RGD:7205445 |
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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G |
Cyp24a1 |
cytochrome P450, family 24, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22337913 |
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NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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G |
Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20427501 |
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NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10638776 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Kl |
Klotho |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17710231 |
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NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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G |
Pth |
parathyroid hormone |
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IDA ISO |
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 PMID:23261531 More...
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RGD:7242689 |
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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G |
Pth1r |
parathyroid hormone 1 receptor |
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IDA |
protein:increased expression:odontoblast; associated with neoplasms |
RGD |
PMID:16036863 |
RGD:1599980 |
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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G |
Pthlh |
parathyroid hormone-like hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896 |
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NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9560283 |
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NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10638776 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15845617 |
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NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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G |
Tnfsf11 |
TNF superfamily member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15845617 |
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NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445
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Cyp24a1 |
cytochrome P450, family 24, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 |
OMIM ClinVar |
PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 PMID:22112808 PMID:23001465 PMID:23293122 PMID:23423976 PMID:23470222 PMID:23485543 PMID:24033266 PMID:24518185 PMID:25194629 PMID:25375986 PMID:25446019 PMID:25741868 PMID:26097993 PMID:26117226 PMID:26214117 PMID:26787776 PMID:26846157 PMID:27394135 PMID:27798933 PMID:28109821 PMID:28470390 PMID:28492532 PMID:31194111 PMID:32375123 PMID:33099630 PMID:33952337 PMID:34307984 PMID:34662328 PMID:34858904 PMID:35956396 PMID:36703897 PMID:37701149 More...
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NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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G |
Kl |
Klotho |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20394945 |
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NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16688119 PMID:17576681 PMID:20466674 PMID:21597970 PMID:24033266 PMID:25296721 PMID:25741868 PMID:26047794 PMID:26787776 PMID:27378183 PMID:28492532 PMID:28893421 PMID:29924459 PMID:29959532 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
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NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Casr |
calcium-sensing receptor |
no_association susceptibility |
ISO IEP |
associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human) DNA:missense mutation: :p.E1011Q (human) mRNA, protein:increased expression:kidney (rat) associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human) |
RGD |
PMID:19887834 PMID:20602573 PMID:22137721 PMID:12239240 |
RGD:7205502, RGD:7205445, RGD:7205675, RGD:7205666 |
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Cldn16 |
claudin 16 |
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ISO |
ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting |
ClinVar |
PMID:14628289 |
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NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
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Cyp24a1 |
cytochrome P450, family 24, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22337913 |
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NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1324751 PMID:3017235 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Pth |
parathyroid hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17164314 |
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NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9560283 PMID:21784483 |
RGD:7242936 |
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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G |
Slc34a3 |
solute carrier family 34 member 3 |
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ISO |
ClinVar Annotator: match by term: Hypercalciuria |
ClinVar |
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NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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Vdr |
vitamin D receptor |
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IEP |
protein:increased expression:kidney, small intestine |
RGD |
PMID:19929616 |
RGD:4889914 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Adcy10 |
adenylate cyclase 10 |
susceptibility |
ISO |
ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 PMID:28492532 More...
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NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
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Dcaf6 |
DDB1 and CUL4 associated factor 6 |
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ISO |
ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria |
ClinVar |
PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 PMID:28492532 More...
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NCBI chr13:77,626,257...77,727,645
Ensembl chr13:77,626,307...77,727,512
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G |
Kl |
Klotho |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20394945 |
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NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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G |
Fgf23 |
fibroblast growth factor 23 |
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ISO |
ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome |
ClinVar |
PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 PMID:25326637 PMID:25741868 PMID:29389098 More...
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NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cortical hyperostosis with hyperphosphatemia | ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome OMIM:211900 |
CTD ClinVar MouseDO |
PMID:15133511 PMID:20358599 PMID:25741868 PMID:28492532 |
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Kl |
Klotho |
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ISO ISS |
ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome OMIM:211900 |
ClinVar MouseDO |
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NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Acrbp |
acrosin binding protein |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
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G |
Acsm4 |
acyl-CoA synthetase medium-chain family member 4 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341
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G |
Adipor2 |
adiponectin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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G |
Aicda |
activation-induced cytidine deaminase |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Akap3 |
A-kinase anchoring protein 3 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,688,049...159,714,067
Ensembl chr 4:159,699,289...159,713,903
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G |
Ano2 |
anoctamin 2 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:158,514,200...158,855,639
Ensembl chr 4:158,496,014...158,855,651
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G |
Apobec1 |
apolipoprotein B mRNA editing enzyme catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
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G |
Atn1 |
atrophin 1 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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G |
B4galnt3 |
beta-1,4-N-acetyl-galactosaminyl transferase 3 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:153,409,019...153,509,019
Ensembl chr 4:153,409,004...153,509,321
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G |
C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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G |
C1rl |
complement C1r subcomponent like |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
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G |
C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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G |
C3ar1 |
complement C3a receptor 1 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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G |
Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:152,408,588...152,521,478
Ensembl chr 4:152,408,657...152,521,268
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G |
Ccdc77 |
coiled-coil domain containing 77 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:153,534,184...153,566,059
Ensembl chr 4:153,534,187...153,566,545
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G |
Ccnd2 |
cyclin D2 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cd163 |
CD163 molecule |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd27 |
CD27 molecule |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
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Cd4 |
Cd4 molecule |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191
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G |
Cd9 |
CD9 molecule |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222
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G |
Cdca3 |
cell division cycle associated 3 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
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G |
Chd4 |
chromodomain helicase DNA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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G |
Clec4a1 |
C-type lectin domain family 4, member A1 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008
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G |
Clec4a3 |
C-type lectin domain family 4, member A3 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817
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G |
Clec4b2 |
C-type lectin domain family 4, member B2 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240
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G |
Clec4d |
C-type lectin domain family 4, member D |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848
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G |
Clec4e |
C-type lectin domain family 4, member E |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
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G |
Clec6a-ps1 |
C-type lectin domain family 6, member A, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605 Ensembl chr 4:156,539,408...156,558,605
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G |
Clstn3 |
calsyntenin 3 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769
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G |
Cops7a |
COP9 signalosome subunit 7A |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948
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G |
Cracr2a |
calcium release activated channel regulator 2A |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:160,428,987...160,517,427
Ensembl chr 4:160,408,077...160,518,107
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G |
Dcp1b |
decapping mRNA 1B |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:152,358,267...152,395,747
Ensembl chr 4:152,358,241...152,397,145
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G |
Dppa3 |
developmental pluripotency-associated 3 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861 Ensembl chr 5:155,815,296...155,854,861
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G |
Dyrk4 |
dual specificity tyrosine phosphorylation regulated kinase 4 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,715,658...159,757,660
Ensembl chr 4:159,715,417...159,757,627
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G |
Emg1 |
EMG1 N1-specific pseudouridine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
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Eno2 |
enolase 2 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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Erc1 |
ELKS/RAB6-interacting/CAST family member 1 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:152,763,664...153,055,724
Ensembl chr 4:152,767,419...153,055,639
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Fam90a1a |
family with sequence similarity 90 member A1A |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr16:70,098,439...70,106,147
Ensembl chr16:70,098,740...70,101,241
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Fbxl14 |
F-box and leucine-rich repeat protein 14 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:152,662,542...152,666,360
Ensembl chr 4:152,662,542...152,666,360
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Ferry3 |
FERRY endosomal RAB5 effector complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,772,693...159,809,322
Ensembl chr 4:159,772,786...159,806,382
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Fgf23 |
fibroblast growth factor 23 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 PMID:25378588 PMID:25741868 PMID:29389098 More...
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NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Fgf6 |
fibroblast growth factor 6 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447
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Fkbp4 |
FKBP prolyl isomerase 4 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:161,703,379...161,711,833
Ensembl chr 4:161,703,379...161,711,833
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G |
Foxj2 |
forkhead box J2 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518
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G |
Foxm1 |
forkhead box M1 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:161,639,538...161,652,012
Ensembl chr 4:161,638,816...161,650,684
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
OMIM ClinVar |
PMID:3839626 PMID:3998061 PMID:5899975 PMID:8338191 PMID:9536098 PMID:13774168 PMID:15133511 PMID:15599692 PMID:15687324 PMID:16199547 PMID:16528452 PMID:16940445 PMID:17311862 PMID:17351710 PMID:17576681 PMID:18322299 PMID:18618993 PMID:18982401 PMID:20358599 PMID:21347749 PMID:24668887 PMID:25326635 PMID:25351881 PMID:25741868 PMID:25899975 PMID:26337219 PMID:27164190 PMID:27867679 PMID:28492532 More...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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Galnt8 |
polypeptide N-acetylgalactosaminyltransferase 8 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,626,438...159,650,327
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Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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G |
Gdf3 |
growth differentiation factor 3 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
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G |
Gnb3 |
G protein subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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G |
Gpr162 |
G protein-coupled receptor 162 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,662,200...157,668,341
Ensembl chr 4:157,662,200...157,668,121
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Grcc10 |
gene rich cluster, C10 gene |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,551,276...157,552,924
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Iffo1 |
intermediate filament family orphan 1 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302
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Ing4 |
inhibitor of growth family, member 4 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265
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Iqsec3 |
IQ motif and Sec7 domain ArfGEF 3 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310
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Itfg2 |
integrin alpha FG-GAP repeat containing 2 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:161,684,249...161,698,315
Ensembl chr 4:161,684,249...161,698,422
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G |
Kcna1 |
potassium voltage-gated channel subfamily A member 1 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682
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Kcna5 |
potassium voltage-gated channel subfamily A member 5 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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G |
Kcna6 |
potassium voltage-gated channel subfamily A member 6 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189
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G |
Kdm5a |
lysine demethylase 5A |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
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G |
Kl |
Klotho |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098 |
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NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Klrg1 |
killer cell lectin like receptor G1 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:155,455,465...155,467,301
Ensembl chr 4:155,455,495...155,467,424
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Lag3 |
lymphocyte activating 3 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404
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G |
LOC120102747 |
small nucleolar RNA U89 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,520,539...157,520,799
Ensembl chr 4:157,520,539...157,520,799
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Lpar5 |
lysophosphatidic acid receptor 5 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,870,493...157,883,979
Ensembl chr 4:157,881,796...157,882,950
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G |
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