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G |
Adar |
adenosine deaminase RNA specific |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26629815 PMID:28139822 PMID:28492532 PMID:28561207 PMID:29221912 PMID:29603717 PMID:31772029 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 PMID:35859177 More...
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NCBI chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435
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G |
Atrip |
ATR interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME |
ClinVar |
PMID:16845398 PMID:17660818 PMID:17846997 PMID:20131292 PMID:21270825 PMID:23602593 PMID:23881107 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25582466 PMID:25604658 PMID:25741868 PMID:26467025 PMID:26938784 PMID:27943079 PMID:28492532 PMID:28750028 PMID:29159939 PMID:29453417 PMID:35307828 PMID:35532072 More...
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NCBI chrNW_004936529:245,134...264,456
Ensembl chrNW_004936529:245,092...264,351
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G |
Ifih1 |
interferon induced with helicase C domain 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903
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G |
Kat5 |
lysine acetyltransferase 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936599:3,767,526...3,775,416
Ensembl chrNW_004936599:3,766,242...3,776,128
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G |
Rnaseh2a |
ribonuclease H2 subunit A |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25604658 PMID:25741868 PMID:26182405 PMID:27943079 PMID:28492532 PMID:31130681 More...
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NCBI chrNW_004936659:1,897,777...1,905,526
Ensembl chrNW_004936659:1,897,769...1,905,457
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G |
Rnaseh2b |
ribonuclease H2 subunit B |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:21177858 PMID:22149989 PMID:23165795 PMID:24033266 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25604658 PMID:25614871 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 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:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:33258288 PMID:33967934 More...
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NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016
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G |
Rnaseh2c |
ribonuclease H2 subunit C |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:23322642 PMID:25604658 PMID:25741868 PMID:28492532 PMID:29150899 PMID:29239743 PMID:31529068 PMID:34302356 More...
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NCBI chrNW_004936599:3,766,330...3,767,453
Ensembl chrNW_004936599:3,766,242...3,767,345
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G |
Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24445253 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:27943079 PMID:28229507 PMID:28492532 PMID:30275001 PMID:32371413 PMID:32384610 PMID:34492268 PMID:36115319 More...
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NCBI chrNW_004936561:4,180,607...4,238,623
Ensembl chrNW_004936561:4,180,546...4,229,036
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G |
Tldc2 |
TBC/LysM-associated domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936561:4,229,945...4,241,425
Ensembl chrNW_004936561:4,230,257...4,241,425
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G |
Trex1 |
three prime repair exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME |
ClinVar |
PMID:16845398 PMID:17660818 PMID:17846997 PMID:20131292 PMID:21270825 PMID:23602593 PMID:23881107 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25582466 PMID:25604658 PMID:25741868 PMID:26467025 PMID:26938784 PMID:27943079 PMID:28492532 PMID:28750028 PMID:29159939 PMID:29453417 PMID:35307828 PMID:35532072 More...
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NCBI chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422
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G |
Usp18 |
ubiquitin specific peptidase 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936807:1,090,928...1,116,166
Ensembl chrNW_004936807:1,090,882...1,114,770
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G |
Amigo3 |
adhesion molecule with Ig like domain 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,331,610...1,335,058
Ensembl chrNW_004936529:1,332,874...1,334,403
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G |
Amt |
aminomethyltransferase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,049,364...1,054,458
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G |
Apeh |
acylaminoacyl-peptide hydrolase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,289,810...1,298,798
Ensembl chrNW_004936529:1,289,827...1,298,798
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G |
Arih2 |
ariadne RBR E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:648,661...713,616
Ensembl chrNW_004936529:648,675...713,675
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G |
Atrip |
ATR interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
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:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29453956 PMID:30219631 PMID:31130681 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32860008 PMID:33504652 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:35307828 PMID:35532072 PMID:35803721 PMID:35879334 More...
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NCBI chrNW_004936529:245,134...264,456
Ensembl chrNW_004936529:245,092...264,351
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G |
Bsn |
bassoon presynaptic cytomatrix protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,182,872...1,287,794
Ensembl chrNW_004936529:1,182,810...1,280,657
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G |
Camkv |
CaM kinase like vesicle associated |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,466,460...1,479,798
Ensembl chrNW_004936529:1,464,716...1,479,808
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G |
Ccdc71 |
coiled-coil domain containing 71 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:857,932...862,976
Ensembl chrNW_004936529:859,274...860,656
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G |
Cdhr4 |
cadherin related family member 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,399,611...1,406,876
Ensembl chrNW_004936529:1,399,611...1,406,876
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G |
Celsr3 |
cadherin EGF LAG seven-pass G-type receptor 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:437,476...464,012
Ensembl chrNW_004936529:437,418...464,017
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G |
Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:348,938...381,701
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G |
CUNH3orf62 |
chromosome unknown C3orf62 homolog |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:934,641...940,858
Ensembl chrNW_004936529:936,848...940,367
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G |
CUNH3orf84 |
chromosome unknown C3orf84 homolog |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:872,150...884,123
Ensembl chrNW_004936529:872,837...884,879
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G |
Dag1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124
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G |
Dalrd3 |
DALR anticodon binding domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:740,861...744,461
Ensembl chrNW_004936529:740,975...745,427
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G |
Gmppb |
GDP-mannose pyrophosphorylase B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,336,002...1,338,615
Ensembl chrNW_004936529:1,336,002...1,338,400
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G |
Gnai2 |
G protein subunit alpha i2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,779,582...1,801,251
Ensembl chrNW_004936529:1,779,571...1,801,255
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G |
Gnat1 |
G protein subunit alpha transducin 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,735,258...1,740,297
Ensembl chrNW_004936529:1,735,440...1,742,567
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G |
Gpx1 |
glutathione peroxidase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987
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G |
Hyal1 |
hyaluronidase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,838,212...1,842,399
Ensembl chrNW_004936529:1,838,676...1,841,188
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G |
Hyal3 |
hyaluronidase 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,831,639...1,837,314
Ensembl chrNW_004936529:1,831,254...1,837,314
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G |
Ifrd2 |
interferon related developmental regulator 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,825,107...1,831,112
Ensembl chrNW_004936529:1,823,679...1,830,879
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G |
Iho1 |
interactor of HORMAD1 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:905,692...929,896
Ensembl chrNW_004936529:889,423...929,929
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G |
Impdh2 |
inosine monophosphate dehydrogenase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:748,777...753,582
Ensembl chrNW_004936529:745,511...753,581
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G |
Inka1 |
inka box actin regulator 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,410,244...1,412,023
Ensembl chrNW_004936529:1,410,201...1,412,023
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G |
Ip6k1 |
inositol hexakisphosphate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,338,812...1,396,981
Ensembl chrNW_004936529:1,338,812...1,396,965
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G |
Ip6k2 |
inositol hexakisphosphate kinase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:487,277...515,614
Ensembl chrNW_004936529:486,879...515,674
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G |
Klhdc8b |
kelch domain containing 8B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:863,052...872,067
Ensembl chrNW_004936529:863,045...872,289
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G |
Lamb2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337
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G |
LOC101956274 |
cytochrome b-c1 complex subunit 1, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:385,942...396,196
Ensembl chrNW_004936529:385,851...396,230
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G |
Lsmem2 |
leucine rich single-pass membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,819,848...1,825,472
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G |
Mon1a |
MON1 homolog A, secretory trafficking associated |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,513,796...1,527,121
Ensembl chrNW_004936529:1,513,753...1,527,506
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G |
Mst1 |
macrophage stimulating 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,298,853...1,306,088
Ensembl chrNW_004936529:1,299,300...1,303,959
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G |
Mst1r |
macrophage stimulating 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,494,748...1,509,925
Ensembl chrNW_004936529:1,495,059...1,509,901
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G |
Naa80 |
N-alpha-acetyltransferase 80, NatH catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,834,308...1,837,248
Ensembl chrNW_004936529:1,834,349...1,837,182
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G |
Nckipsd |
NCK interacting protein with SH3 domain |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:474,978...485,333
Ensembl chrNW_004936529:471,913...485,389
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G |
Ndufaf3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:746,620...748,145
Ensembl chrNW_004936529:747,021...748,695
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G |
Nicn1 |
nicolin 1, tubulin polyglutamylase complex subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004936529:1,054,568...1,059,575
Ensembl chrNW_004936529:1,052,090...1,059,617
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G |
P4htm |
prolyl 4-hydroxylase, transmembrane |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004936529:716,407...732,010
Ensembl chrNW_004936529:716,433...731,795
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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 |
|
NCBI chrNW_004936529:304,090...346,281
Ensembl chrNW_004936529:303,843...342,935
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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 |
|
NCBI chrNW_004936529:528,138...601,078
Ensembl chrNW_004936529:528,114...601,122
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G |
Qars1 |
glutaminyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265
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G |
Qrich1 |
glutamine rich 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:753,842...802,405
Ensembl chrNW_004936529:753,844...801,861
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G |
Rbm5 |
RNA binding motif protein 5 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,639,919...1,672,143
Ensembl chrNW_004936529:1,639,880...1,672,282
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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 chrNW_004936529:1,534,816...1,635,012
Ensembl chrNW_004936529:1,534,657...1,635,071
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G |
Rhoa |
ras homolog family member A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681
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G |
Rnf123 |
ring finger protein 123 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,306,849...1,336,032
Ensembl chrNW_004936529:1,306,968...1,336,032
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G |
Sema3b |
semaphorin 3B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,806,535...1,818,352
Ensembl chrNW_004936529:1,802,982...1,818,736
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G |
Sema3f |
semaphorin 3F |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,704,523...1,733,465
Ensembl chrNW_004936529:1,704,476...1,733,941
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G |
Shisa5 |
shisa family member 5 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:266,671...292,103
Ensembl chrNW_004936529:266,456...269,732
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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 |
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NCBI chrNW_004936529:607,035...631,872
Ensembl chrNW_004936529:606,804...631,991
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G |
Slc26a6 |
solute carrier family 26 member 6 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:425,839...435,590
Ensembl chrNW_004936529:424,720...435,293
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G |
Slc38a3 |
solute carrier family 38 member 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,749,919...1,765,885
Ensembl chrNW_004936529:1,749,853...1,768,476
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G |
Tcta |
T cell leukemia translocation altered |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,045,735...1,047,922
Ensembl chrNW_004936529:1,045,798...1,050,384
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G |
Tmem89 |
transmembrane protein 89 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:422,145...424,320
Ensembl chrNW_004936529:423,025...423,958
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G |
Traip |
TRAF interacting protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chrNW_004936529:1,434,629...1,466,382
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G |
Trex1 |
three prime repair exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
OMIM ClinVar |
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:19344873 PMID:19875384 PMID:20131292 PMID: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:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29453956 PMID:30219631 PMID:31130681 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32860008 PMID:33504652 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:35307828 PMID:35532072 PMID:35803721 PMID:35879334 More...
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NCBI chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422
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G |
Uba7 |
ubiquitin like modifier activating enzyme 7 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004936529:1,412,196...1,421,216
Ensembl chrNW_004936529:1,412,194...1,421,197
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G |
Ucn2 |
urocortin 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004936529:347,411...348,040
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G |
Usp19 |
ubiquitin specific peptidase 19 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004936529:814,649...826,008
Ensembl chrNW_004936529:813,951...826,014
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G |
Usp4 |
ubiquitin specific peptidase 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004936529:941,042...989,781
Ensembl chrNW_004936529:938,501...989,884
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G |
Wdr6 |
WD repeat domain 6 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chrNW_004936529:731,958...741,334
Ensembl chrNW_004936529:730,716...745,427
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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: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:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:32488064 PMID:33084218 PMID:33258288 PMID:33482855 PMID:33967934 More...
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NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016
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G |
Actn3 |
actinin alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:3,033,854...3,046,364
Ensembl chrNW_004936599:3,029,202...3,046,385
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G |
Acy3 |
aminoacylase 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,146,162...2,149,527
Ensembl chrNW_004936599:2,145,865...2,149,576
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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 chrNW_004936599:2,274,451...2,280,486
Ensembl chrNW_004936599:2,274,448...2,280,504
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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 chrNW_004936599:2,086,874...2,101,173
Ensembl chrNW_004936599:2,085,736...2,101,302
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G |
Ankrd13d |
ankyrin repeat domain 13D |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,423,095...2,434,534
Ensembl chrNW_004936599:2,423,048...2,434,897
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G |
Ano1 |
anoctamin 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:647,230...726,371
Ensembl chrNW_004936599:648,659...719,310
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G |
Ap5b1 |
adaptor related protein complex 5 subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004936599:3,750,553...3,753,601
Ensembl chrNW_004936599:3,750,512...3,754,291
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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 chrNW_004936599:3,257,329...3,259,614
Ensembl chrNW_004936599:3,257,329...3,259,719
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G |
Banf1 |
BAF nuclear assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:3,553,190...3,555,167
Ensembl chrNW_004936599:3,553,193...3,555,162
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G |
Bbs1 |
Bardet-Biedl syndrome 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:3,059,274...3,076,853
Ensembl chrNW_004936599:3,059,148...3,076,299
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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 chrNW_004936599:3,259,868...3,267,172
Ensembl chrNW_004936599:3,259,835...3,267,676
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G |
Cabp2 |
calcium binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:2,246,139...2,250,963
Ensembl chrNW_004936599:2,246,177...2,250,865
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G |
Cabp4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:2,295,124...2,299,558
Ensembl chrNW_004936599:2,293,000...2,300,322
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G |
Capn1 |
calpain 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:4,178,963...4,201,037
Ensembl chrNW_004936599:4,178,901...4,201,052
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G |
Carns1 |
carnosine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:2,322,797...2,331,604
Ensembl chrNW_004936599:2,322,815...2,331,599
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G |
Catsper1 |
cation channel sperm associated 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,529,621...3,538,291
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G |
Ccdc85b |
coiled-coil domain containing 85B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,649,372...3,650,408
Ensembl chrNW_004936599:3,649,613...3,650,221
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G |
Ccdc87 |
coiled-coil domain containing 87 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,005,067...3,008,053
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G |
Ccnd1 |
cyclin D1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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Ensembl chrNW_004936599:973,838...983,316
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G |
Ccs |
copper chaperone for superoxide dismutase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:2,992,740...3,005,230
Ensembl chrNW_004936599:2,988,025...3,005,599
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G |
Cd248 |
CD248 molecule |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,284,695...3,287,022
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G |
Cdk2ap2 |
cyclin dependent kinase 2 associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:2,257,731...2,259,883
Ensembl chrNW_004936599:2,257,671...2,259,886
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G |
Cfl1 |
cofilin 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004936599:3,678,724...3,682,314
Ensembl chrNW_004936599:3,677,804...3,682,307
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G |
Chka |
choline kinase alpha |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:2,031,953...2,068,423
Ensembl chrNW_004936599:2,001,673...2,067,399
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G |
Clcf1 |
cardiotrophin like cytokine factor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:2,372,889...2,376,316
Ensembl chrNW_004936599:2,372,031...2,376,939
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G |
Cnih2 |
cornichon family AMPA receptor auxiliary protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,310,873...3,316,575
Ensembl chrNW_004936599:3,310,872...3,316,573
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G |
Coro1b |
coronin 1B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:2,307,974...2,312,487
Ensembl chrNW_004936599:2,307,761...2,312,938
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G |
Cpt1a |
carnitine palmitoyltransferase 1A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:1,491,934...1,535,101
Ensembl chrNW_004936599:1,482,172...1,535,119
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G |
Cst6 |
cystatin E/M |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,541,359...3,543,206
Ensembl chrNW_004936599:3,541,272...3,543,418
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G |
Ctsf |
cathepsin F |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,026,837...3,033,735
Ensembl chrNW_004936599:3,029,327...3,033,272
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G |
Ctsw |
cathepsin W |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,657,255...3,661,007
Ensembl chrNW_004936599:3,657,453...3,660,922
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G |
CUNH11orf24 |
chromosome unknown C11orf24 homolog |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:1,869,034...1,879,011
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G |
CUNH11orf68 |
chromosome unknown C11orf68 homolog |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,624,401...3,626,237
Ensembl chrNW_004936599:3,624,428...3,626,237
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G |
CUNH11orf86 |
chromosome unknown C11orf86 homolog |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:2,664,951...2,665,843
Ensembl chrNW_004936599:2,664,951...2,665,843
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G |
Dpf2 |
double PHD fingers 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:4,063,030...4,078,159
Ensembl chrNW_004936599:4,062,764...4,078,228
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G |
Dpp3 |
dipeptidyl peptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:3,076,909...3,098,012
Ensembl chrNW_004936599:3,076,909...3,097,785
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G |
Drap1 |
DR1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:3,621,549...3,622,824
Ensembl chrNW_004936599:3,621,423...3,622,874
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G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004936599:3,663,288...3,670,048
Ensembl chrNW_004936599:3,663,326...3,670,047
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G |
Ehbp1l1 |
EH domain binding protein 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004936599:3,867,185...3,882,712
Ensembl chrNW_004936599:3,867,005...3,882,732
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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 |
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NCBI chrNW_004936599:3,555,273...3,558,443
Ensembl chrNW_004936599:3,555,273...3,562,842
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G |
Fadd |
Fas associated via death domain |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:633,501...639,412
Ensembl chrNW_004936599:633,330...639,456
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G |
Fgf19 |
fibroblast growth factor 19 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:923,943...932,428
Ensembl chrNW_004936599:923,943...932,321
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G |
Fgf3 |
fibroblast growth factor 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:868,634...875,464
Ensembl chrNW_004936599:868,634...875,464
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G |
Fgf4 |
fibroblast growth factor 4 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:894,091...895,676
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G |
Fibp |
FGF1 intracellular binding protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,652,889...3,657,171
Ensembl chrNW_004936599:3,652,839...3,660,645
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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 |
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NCBI chrNW_004936599:3,642,504...3,649,294
Ensembl chrNW_004936599:3,642,504...3,648,417
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G |
Frmd8 |
FERM domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:4,019,651...4,033,352
Ensembl chrNW_004936599:4,014,355...4,032,866
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G |
Gal |
galanin and GMAP prepropeptide |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:1,563,270...1,567,618
Ensembl chrNW_004936599:1,563,270...1,566,158
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G |
Gal3st3 |
galactose-3-O-sulfotransferase 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,498,011...3,512,550
Ensembl chrNW_004936599:3,498,005...3,504,901
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G |
Gpr152 |
G protein-coupled receptor 152 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:2,301,232...2,303,547
Ensembl chrNW_004936599:2,300,120...2,302,731
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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 |
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NCBI chrNW_004936599:2,437,061...2,456,141
Ensembl chrNW_004936599:2,437,032...2,456,147
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G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
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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 |
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NCBI chrNW_004936599:1,406,815...1,439,764
Ensembl chrNW_004936599:1,406,802...1,439,774
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G |
Kat5 |
lysine acetyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600438 |
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NCBI chrNW_004936599:3,767,526...3,775,416
Ensembl chrNW_004936599:3,766,242...3,776,128
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G |
Kcnk7 |
potassium two pore domain channel subfamily K member 7 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004936599:3,864,110...3,866,998
Ensembl chrNW_004936599:3,864,097...3,866,994
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G |
Kdm2a |
lysine demethylase 2A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,466,427...2,576,623
Ensembl chrNW_004936599:2,466,214...2,576,623
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G |
Klc2 |
kinesin light chain 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,325,013...3,334,366
Ensembl chrNW_004936599:3,325,015...3,334,434
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G |
Kmt5b |
lysine methyltransferase 5B |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:1,928,172...1,983,983
Ensembl chrNW_004936599:1,928,145...1,984,008
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G |
LOC110596870 |
RNA-binding protein 14 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,968,178...2,984,033
Ensembl chrNW_004936599:2,975,350...2,984,060
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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 chrNW_004936599:2,781,439...2,784,627
Ensembl chrNW_004936599:2,780,745...2,784,627
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G |
Lrp5 |
LDL receptor related protein 5 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:1,746,309...1,814,471
Ensembl chrNW_004936599:1,746,406...1,814,321
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471
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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 chrNW_004936599:961,060...965,274
Ensembl chrNW_004936599:961,113...965,274
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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 chrNW_004936599:3,847,637...3,862,895
Ensembl chrNW_004936599:3,848,334...3,863,005
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G |
Mrgprd |
MAS related GPR family member D |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:1,384,216...1,385,296
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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 chrNW_004936599:1,361,858...1,369,277
Ensembl chrNW_004936599:1,361,823...1,369,300
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G |
Mrpl11 |
mitochondrial ribosomal protein L11 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:3,134,791...3,136,470
Ensembl chrNW_004936599:3,134,607...3,137,448
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G |
Mrpl21 |
mitochondrial ribosomal protein L21 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:1,440,207...1,448,424
Ensembl chrNW_004936599:1,440,156...1,448,472
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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 chrNW_004936599:3,670,759...3,677,375
Ensembl chrNW_004936599:3,670,862...3,677,239
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G |
Ndufs8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,081,493...2,085,635
Ensembl chrNW_004936599:2,081,079...2,084,730
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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 chrNW_004936599:2,169,434...2,173,090
Ensembl chrNW_004936599:2,167,173...2,173,227
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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 chrNW_004936599:3,144,829...3,150,307
Ensembl chrNW_004936599:3,144,793...3,150,377
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G |
Nudt8 |
nudix hydrolase 8 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,159,654...2,161,657
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G |
Ovol1 |
ovo like transcriptional repressor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004936599:3,732,335...3,742,749
Ensembl chrNW_004936599:3,731,083...3,742,770
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G |
Pacs1 |
phosphofurin acidic cluster sorting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:3,345,242...3,379,634
Ensembl chrNW_004936599:3,344,037...3,379,671
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G |
Pc |
pyruvate carboxylase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,677,770...2,793,033
Ensembl chrNW_004936599:2,677,583...2,793,197
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G |
Pcnx3 |
pecanex 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004936599:3,825,376...3,847,592
Ensembl chrNW_004936599:3,825,376...3,847,283
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G |
Peli3 |
pellino E3 ubiquitin protein ligase family member 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:3,099,256...3,110,566
Ensembl chrNW_004936599:3,099,256...3,110,565
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G |
Pitpnm1 |
phosphatidylinositol transfer protein membrane associated 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,262,210...2,273,933
Ensembl chrNW_004936599:2,262,204...2,276,203
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G |
Pola2 |
DNA polymerase alpha 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:4,105,365...4,132,079
Ensembl chrNW_004936599:4,105,301...4,132,054
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G |
Pold4 |
DNA polymerase delta 4, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,383,919...2,385,705
Ensembl chrNW_004936599:2,383,792...2,386,537
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G |
Ppp1ca |
protein phosphatase 1 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,345,982...2,348,494
Ensembl chrNW_004936599:2,344,552...2,348,494
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G |
Ppp6r3 |
protein phosphatase 6 regulatory subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:1,603,700...1,739,224
Ensembl chrNW_004936599:1,602,430...1,697,221
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G |
Ptprcap |
protein tyrosine phosphatase receptor type C associated protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,312,570...2,315,053
Ensembl chrNW_004936599:2,312,896...2,315,028
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G |
Rab1b |
RAB1B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:3,317,258...3,324,208
Ensembl chrNW_004936599:3,317,258...3,324,213
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G |
Rad9a |
RAD9 checkpoint clamp component A |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,348,869...2,353,907
Ensembl chrNW_004936599:2,345,646...2,354,029
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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 chrNW_004936599:2,934,951...2,945,753
Ensembl chrNW_004936599:2,935,397...2,945,345
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G |
Rce1 |
Ras converting CAAX endopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,794,947...2,798,121
Ensembl chrNW_004936599:2,793,215...2,798,707
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
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G |
Rhod |
ras homolog family member D |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,603,800...2,611,686
Ensembl chrNW_004936599:2,603,636...2,611,692
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G |
Rin1 |
Ras and Rab interactor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:3,267,223...3,274,359
Ensembl chrNW_004936599:3,268,122...3,272,444
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G |
Rnaseh2c |
ribonuclease H2 subunit C |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:23322642 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28600438 PMID:29150899 PMID:29239743 PMID:29389947 PMID:30315573 PMID:31130681 PMID:31529068 PMID:32404165 PMID:34008892 PMID:34055681 PMID:34302356 More...
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NCBI chrNW_004936599:3,766,330...3,767,453
Ensembl chrNW_004936599:3,766,242...3,767,345
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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 chrNW_004936599:2,315,146...2,321,127
Ensembl chrNW_004936599:2,315,146...2,321,152
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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 chrNW_004936599:3,577,552...3,588,825
Ensembl chrNW_004936599:3,577,480...3,588,706
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G |
Scyl1 |
SCY1 like pseudokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:3,918,325...3,928,415
Ensembl chrNW_004936599:3,918,469...3,928,421
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G |
Sf3b2 |
splicing factor 3b subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:3,477,882...3,494,366
Ensembl chrNW_004936599:3,477,589...3,494,354
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G |
Sipa1 |
signal-induced proliferation-associated 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004936599:3,813,350...3,825,319
Ensembl chrNW_004936599:3,813,596...3,822,170
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G |
Slc25a45 |
solute carrier family 25 member 45 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:4,038,080...4,043,268
Ensembl chrNW_004936599:4,037,880...4,043,266
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G |
Slc29a2 |
solute carrier family 29 member 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:3,210,463...3,221,012
Ensembl chrNW_004936599:3,211,939...3,223,348
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G |
Sptbn2 |
spectrin beta, non-erythrocytic 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,890,404...2,928,502
Ensembl chrNW_004936599:2,890,817...2,928,499
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G |
Ssh3 |
slingshot protein phosphatase 3 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,414,128...2,422,183
Ensembl chrNW_004936599:2,414,090...2,422,361
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G |
Syt12 |
synaptotagmin 12 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,617,083...2,637,355
Ensembl chrNW_004936599:2,615,075...2,637,422
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G |
Tbc1d10c |
TBC1 domain family member 10C |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,338,131...2,344,134
Ensembl chrNW_004936599:2,338,752...2,344,134
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G |
Tbx10 |
T-box transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936599:2,152,281...2,158,332
Ensembl chrNW_004936599:2,152,272...2,158,332
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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 chrNW_004936599:2,070,211...2,079,169
Ensembl chrNW_004936599:2,066,847...2,079,206
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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 chrNW_004936599:1,537,307...1,560,971
Ensembl chrNW_004936599:1,537,307...1,560,960
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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 chrNW_004936599:4,058,345...4,061,157
Ensembl chrNW_004936599:4,058,692...4,060,107
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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 chrNW_004936599:2,288,840...2,293,390
Ensembl chrNW_004936599:2,288,838...2,293,367
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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 chrNW_004936599:3,298,799...3,303,912
Ensembl chrNW_004936599:3,297,694...3,303,938
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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 chrNW_004936599:2,798,185...2,875,995
Ensembl chrNW_004936599:2,798,340...2,876,370
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G |
Tpcn2 |
two pore segment channel 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:1,301,937...1,343,046
Ensembl chrNW_004936599:1,318,169...1,343,106
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G |
Tsga10ip |
testis specific 10 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,589,017...3,600,067
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G |
Unc93b1 |
unc-93 homolog B1, TLR signaling regulator |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:2,109,292...2,146,006
Ensembl chrNW_004936599:2,109,292...2,117,143
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G |
Yif1a |
Yip1 interacting factor homolog A, membrane trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,305,946...3,310,498
Ensembl chrNW_004936599:3,305,925...3,310,836
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G |
Zdhhc24 |
zinc finger DHHC-type containing 24 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936599:3,047,011...3,054,512
Ensembl chrNW_004936599:3,047,011...3,054,498
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G |
Znrd2 |
zinc ribbon domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chrNW_004936599:3,886,898...3,888,642
Ensembl chrNW_004936599:3,886,892...3,888,866
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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:28492532 |
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NCBI chrNW_004936659:1,943,673...1,945,994
Ensembl chrNW_004936659:1,941,372...1,946,087
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G |
Gcdh |
glutaryl-CoA dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758
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G |
Klf1 |
KLF transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003
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G |
Mast1 |
microtubule associated serine/threonine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936659:1,919,191...1,943,440
Ensembl chrNW_004936659:1,918,420...1,946,087
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G |
Rnaseh2a |
ribonuclease H2 subunit A |
|
ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition |
OMIM ClinVar |
PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26182405 PMID:26467025 PMID:27943079 PMID:28492532 PMID:28600779 PMID:29239743 PMID:31130284 PMID:31130681 PMID:31529068 More...
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NCBI chrNW_004936659:1,897,777...1,905,526
Ensembl chrNW_004936659:1,897,769...1,905,457
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G |
Rtbdn |
retbindin |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936659:1,907,933...1,911,690
Ensembl chrNW_004936659:1,907,936...1,911,994
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G |
Syce2 |
synaptonemal complex central element protein 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936659:1,962,055...1,978,743
Ensembl chrNW_004936659:1,961,243...1,978,743
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G |
Blcap |
BLCAP apoptosis inducing factor |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936561:3,735,449...3,746,028
Ensembl chrNW_004936561:3,732,134...3,746,028
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G |
Ctnnbl1 |
catenin beta like 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936561:3,434,232...3,589,341
Ensembl chrNW_004936561:3,434,731...3,589,341
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G |
Ghrh |
growth hormone releasing hormone |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936561:3,946,256...3,954,472
Ensembl chrNW_004936561:3,950,340...3,952,405
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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 chrNW_004936561:3,898,666...3,915,215
Ensembl chrNW_004936561:3,914,033...3,915,138
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G |
Mroh8 |
maestro heat like repeat family member 8 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936561:4,020,258...4,083,045
Ensembl chrNW_004936561:4,020,333...4,079,808
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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 chrNW_004936561:3,739,664...3,744,015
Ensembl chrNW_004936561:3,739,664...3,742,154
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G |
Rbl1 |
RB transcriptional corepressor like 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936561:4,108,393...4,157,993
Ensembl chrNW_004936561:4,107,861...4,157,647
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G |
Rpn2 |
ribophorin II |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936561:3,960,979...4,020,792
Ensembl chrNW_004936561:3,960,818...4,021,369
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G |
Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:21402907 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24300241 PMID:24316776 PMID:24989684 PMID:25604658 PMID:25640679 PMID:25741868 PMID:25741895 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:34492268 PMID:35590234 More...
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NCBI chrNW_004936561:4,180,607...4,238,623
Ensembl chrNW_004936561:4,180,546...4,229,036
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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 chrNW_004936561:3,826,802...3,844,406
Ensembl chrNW_004936561:3,825,787...3,844,483
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G |
Tldc2 |
TBC/LysM-associated domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936561:4,229,945...4,241,425
Ensembl chrNW_004936561:4,230,257...4,241,425
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G |
Adar |
adenosine deaminase RNA specific |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 |
OMIM ClinVar |
PMID:9536098 PMID:9889202 PMID:15146470 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: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:35859177 More...
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NCBI chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435
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G |
Ifih1 |
interferon induced with helicase C domain 1 |
|
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 chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903
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G |
Lsm11 |
LSM11, U7 small nuclear RNA associated |
|
ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 |
OMIM ClinVar |
PMID:33230297 |
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NCBI chrNW_004936515:5,448,490...5,459,295
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G |
CUNH12orf57 |
chromosome unknown C12orf57 homolog |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 |
ClinVar |
PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 |
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NCBI chrNW_004936709:884,741...886,617
Ensembl chrNW_004936709:884,741...886,895
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G |
LOC101971027 |
neuroendocrine secretory protein 55 |
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ISO |
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 ClinVar |
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: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: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:30349702 PMID:30674755 PMID:30702195 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34008892 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
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NCBI chrNW_004936530:1,353,432...1,407,437
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G |
Pthlh |
parathyroid hormone like hormone |
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ISO |
OMIM:103580 |
MouseDO |
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NCBI chrNW_004936760:197,525...209,212
Ensembl chrNW_004936760:197,525...209,518
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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 |
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 chrNW_004936541:7,867,856...7,916,145
Ensembl chrNW_004936541:7,867,303...7,916,154
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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 |
PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 PMID:32246227 More...
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NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709
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G |
Ager |
advanced glycosylation end-product specific receptor |
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ISO |
associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) |
RGD |
PMID:23497312 |
RGD:7244260 |
NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147
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G |
Agt |
angiotensinogen |
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ISO |
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RGD |
PMID:23291307 |
RGD:8549476 |
NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
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G |
Atp5f1d |
ATP synthase F1 subunit delta |
treatment |
ISO |
associated with Hypercholesterolemia |
RGD |
PMID:26047104 |
RGD:11057945 |
NCBI chrNW_004936588:612,255...614,894
Ensembl chrNW_004936588:611,725...617,782
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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 chrNW_004937067:194,375...246,607
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G |
Grp |
gastrin releasing peptide |
treatment |
ISO |
associated with chronic kidney disease |
RGD |
PMID:32192106 |
RGD:329961569 |
NCBI chrNW_004936497:5,473,293...5,487,344
Ensembl chrNW_004936497:5,476,800...5,487,358
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G |
Gsn |
gelsolin |
disease_progression |
ISO |
protein:decreased expression:blood (human) |
RGD |
PMID:26941566 |
RGD:329336117 |
NCBI chrNW_004936487:9,749,755...9,802,787
Ensembl chrNW_004936487:9,764,944...9,802,841
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta |
RGD |
PMID:25430697 |
RGD:11038653 |
NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta |
RGD |
PMID:25430697 |
RGD:11038653 |
NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
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G |
Vkorc1 |
vitamin K epoxide reductase complex subunit 1 |
susceptibility |
ISO |
DNA:missense mutation: :p.Y139C (416A>G) (rat) |
RGD |
PMID:19884975 |
RGD:2315841 |
NCBI chrNW_004936501:13,459,400...13,461,864
Ensembl chrNW_004936501:13,459,022...13,462,174
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G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Aortic valve disease 1 |
ClinVar |
PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 |
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NCBI chrNW_004936669:2,474,381...2,613,541
Ensembl chrNW_004936669:2,476,818...2,580,891
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
ISO |
mRNA:increased expression:aorta (rat) |
RGD |
PMID:22659116 |
RGD:12914785 |
NCBI chrNW_004937067:194,375...246,607
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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 chrNW_004936514:10,061,675...10,070,541
Ensembl chrNW_004936514:10,061,675...10,070,541
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G |
Il6 |
interleukin 6 |
severity |
ISO |
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RGD |
PMID:23969418 |
RGD:12792206 |
NCBI chrNW_004936549:7,015,595...7,016,246
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition |
OMIM ClinVar |
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:24113472 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:27283355 PMID:27760138 PMID:27854218 PMID:27993330 PMID:28074886 PMID:28387797 PMID:28492532 PMID:28776427 PMID:28963436 PMID:28991257 PMID:29641532 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30511478 PMID:30582441 PMID:30609409 PMID:30675029 PMID:31624253 PMID:31633846 PMID:31654484 PMID:31866570 PMID:32277046 PMID:32748548 PMID:33064175 PMID:33110418 PMID:33208564 PMID:33726816 PMID:33914609 PMID:33994118 PMID:34328347 PMID:34498425 PMID:35101336 PMID:35288444 More...
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NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
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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 chrNW_004936471:26,781,420...26,856,556
Ensembl chrNW_004936471:26,781,549...26,856,571
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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 chrNW_004936478:10,887,900...10,939,510
Ensembl chrNW_004936478:10,888,045...10,939,564
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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 chrNW_004936501:3,469,928...3,508,577
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Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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ISO |
ClinVar Annotator: match by term: Idiopathic infantile arterial calcification |
ClinVar |
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:16025115 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:20981035 PMID:22539483 PMID:24033266 PMID:25741868 PMID:27238374 PMID:28377967 PMID:28492532 PMID:29979387 PMID:35738466 More...
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NCBI chrNW_004937067:194,375...246,607
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Amelx |
amelogenin X-linked |
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ISO |
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RGD |
PMID:15721149 |
RGD:1599092 |
NCBI chrNW_004936470:1,169,906...1,174,166
Ensembl chrNW_004936470:1,169,906...1,179,604
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Bglap |
bone gamma-carboxyglutamate protein |
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ISO |
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RGD |
PMID:2106357 |
RGD:6483581 |
NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155
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Casr |
calcium sensing receptor |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia |
ClinVar |
PMID:11136551 PMID:11701698 PMID:12067826 PMID:12574188 PMID:12733714 PMID:14519094 PMID:17039419 PMID:19179454 PMID:20119591 PMID:20668040 PMID:21645025 PMID:22422767 PMID:22789683 PMID:24133354 PMID:24297799 PMID:24823460 PMID:24948345 PMID:25137426 PMID:25420019 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29846619 PMID:30470382 PMID:30496603 PMID:34913197 More...
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NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
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LOC101978323 |
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial |
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ISO |
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RGD |
PMID:11416220 |
RGD:734871 |
NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
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Pth |
parathyroid hormone |
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ISO |
protein:increased expression:serum (rat) |
RGD |
PMID:22581996 |
RGD:7242904 |
NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
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Casr |
calcium sensing receptor |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL |
ClinVar OMIM |
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:9253358 PMID:9422777 PMID:9536098 PMID:9661634 PMID:9920108 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10487661 PMID:10770217 PMID:10912749 PMID:10912782 PMID:11013439 PMID:11102444 PMID:11134112 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: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: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:19179454 PMID:19389809 PMID:19694204 PMID:19759318 PMID:19779033 PMID:20119591 PMID:20164288 PMID:20501971 PMID:20602573 PMID:20668040 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21441391 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22192860 PMID:22422767 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23186954 PMID:23372019 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24244430 PMID:24297799 PMID:24823460 PMID:24854525 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:30407919 PMID:30470382 PMID:30496603 PMID:30895164 PMID:31189130 PMID:31672324 PMID:31883284 PMID:32347971 PMID:32386559 PMID:33112267 PMID:34008892 PMID:34913197 PMID:35300448 PMID:35818129 More...
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NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
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Gna11 |
G protein subunit alpha 11 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 |
OMIM ClinVar |
PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 PMID:26994139 PMID:28194446 PMID:28492532 More...
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NCBI chrNW_004936588:1,770,777...1,789,143
Ensembl chrNW_004936588:1,770,771...1,789,170
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Casr |
calcium sensing receptor |
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ISO |
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome |
ClinVar |
PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:25506941 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
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Fgf23 |
fibroblast growth factor 23 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant |
OMIM ClinVar |
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 More...
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NCBI chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961
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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 chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847
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Dmp1 |
dentin matrix acidic phosphoprotein 1 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive |
ClinVar |
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NCBI chrNW_004936905:419,478...427,335
Ensembl chrNW_004936905:420,354...427,324
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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 chrNW_004937067:194,375...246,607
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Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
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Slc20a2 |
solute carrier family 20 member 2 |
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ISO |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chrNW_004936785:177,134...285,467
Ensembl chrNW_004936785:181,127...285,209
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Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23308213 |
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NCBI chrNW_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093
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Cd40lg |
CD40 ligand |
treatment |
ISO |
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RGD |
PMID:24374105 |
RGD:11352276 |
NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
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Dll4 |
delta like canonical Notch ligand 4 |
ameliorates |
ISO |
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RGD |
PMID:22699504 |
RGD:155641244 |
NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253
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Hspd1 |
heat shock protein family D (Hsp60) member 1 |
severity |
ISO |
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RGD |
PMID:15120829 |
RGD:12910476 |
NCBI chrNW_004936506:1,678,069...1,687,632
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Meis2 |
Meis homeobox 2 |
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ISO |
mRNA,protein:decreased expression:aortic valve: |
RGD |
PMID:30594396 |
RGD:155598679 |
NCBI chrNW_004936471:800,510...1,006,054
Ensembl chrNW_004936471:798,739...1,006,047
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Notch1 |
notch receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16025100 |
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NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
disease_progression |
ISO |
protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells |
RGD |
PMID:25722432 |
RGD:13207434 |
NCBI chrNW_004936481:3,821,564...3,828,086
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Pth |
parathyroid hormone |
disease_progression |
ISO |
protein:increased expression:serum (rat) |
RGD |
PMID:22634235 |
RGD:7242900 |
NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
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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 chrNW_004936514:4,065,455...4,083,847
Ensembl chrNW_004936514:4,068,238...4,084,009
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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 chrNW_004936783:1,117,835...1,130,739
Ensembl chrNW_004936783:1,117,829...1,131,213
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Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29358327 |
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NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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Ahsg |
alpha 2-HS glycoprotein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16177000 |
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NCBI chrNW_004936578:3,332,934...3,339,903
Ensembl chrNW_004936578:3,332,934...3,339,903
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Alpl |
alkaline phosphatase, biomineralization associated |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21193197 |
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NCBI chrNW_004936474:7,209,196...7,229,899
Ensembl chrNW_004936474:7,209,093...7,229,989
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Bglap |
bone gamma-carboxyglutamate protein |
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ISO |
CTD Direct Evidence: marker/mechanism associated with hypertension;protein:undercarboxylated:serum protein:increased expression:dermis: |
CTD RGD |
PMID:18422975 PMID:20197689 PMID:21335463 |
RGD:6483566 RGD:9068449 |
NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155
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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 chrNW_004936485:12,428,765...12,439,570
Ensembl chrNW_004936485:12,428,710...12,439,454
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Bmp4 |
bone morphogenetic protein 4 |
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ISO |
protein:increased expression:dermis: |
RGD |
PMID:18422975 |
RGD:9068449 |
NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468
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C6 |
complement C6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chrNW_004936518:1,471,116...1,532,733
Ensembl chrNW_004936518:1,471,355...1,532,439
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Casp3 |
caspase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chrNW_004936554:4,571,072...4,593,765
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Ccl15 |
C-C motif chemokine ligand 15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chrNW_004936490:298,270...302,147
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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 chrNW_004936778:847,473...943,038
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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 chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
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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 chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593
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Ctnnb1 |
catenin beta 1 |
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ISO |
protein:increased expression:dermis: |
RGD |
PMID:18422975 |
RGD:9068449 |
NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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Dmd |
dystrophin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18340010 |
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NCBI chrNW_004936553:7,157,526...7,943,703
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Epo |
erythropoietin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12148126 |
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NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
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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 chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956
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Fcgr1a |
Fc fragment of IgG receptor Ia |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chrNW_004936580:115,552...144,970
Ensembl chrNW_004936580:115,450...145,785
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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 chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961
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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 chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657
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Gpx1 |
glutathione peroxidase 1 |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) |
RGD |
PMID:17825092 |
RGD:2306608 |
NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987
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Il18 |
interleukin 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
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Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
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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 chrNW_004936574:1,465,981...1,495,717
Ensembl chrNW_004936574:1,465,897...1,495,762
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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 chrNW_004936778:1,286,475...1,311,184
Ensembl chrNW_004936778:1,286,341...1,311,194
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G |
Jak2 |
Janus kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867
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G |
Kl |
klotho |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17710231 |
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NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
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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 chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221
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G |
Lsp1 |
lymphocyte specific protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chrNW_004936816:752,021...786,998
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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 chrNW_004936534:5,848,110...5,908,082
Ensembl chrNW_004936534:5,848,100...5,908,114
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G |
Mgp |
matrix Gla protein |
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ISO |
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RGD |
PMID:15045141 |
RGD:1582501 |
NCBI chrNW_004936587:2,601,419...2,605,848
Ensembl chrNW_004936587:2,601,312...2,605,870
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15545515 PMID:21193197 |
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NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15545515 PMID:21193197 |
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NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
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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 chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
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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 chrNW_004936536:6,691,590...6,726,421
Ensembl chrNW_004936536:6,691,590...6,726,704
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
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NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
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NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
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G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6143199 |
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NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
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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 chrNW_004936709:864,206...884,630
Ensembl chrNW_004936709:864,197...884,610
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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 chrNW_004936501:13,550,702...13,552,774
Ensembl chrNW_004936501:13,550,679...13,552,805
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G |
Ripk3 |
receptor interacting serine/threonine kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chrNW_004936722:209,019...212,817
Ensembl chrNW_004936722:209,013...212,839
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G |
Slc20a2 |
solute carrier family 20 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
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NCBI chrNW_004936785:177,134...285,467
Ensembl chrNW_004936785:181,127...285,209
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G |
Slc22a6 |
solute carrier family 22 member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12803500 |
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NCBI chrNW_004936581:348,719...356,246
Ensembl chrNW_004936581:349,057...356,059
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G |
Snai2 |
snail family transcriptional repressor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29358327 |
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NCBI chrNW_004936590:3,813,916...3,817,642
Ensembl chrNW_004936590:3,813,888...3,817,642
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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 chrNW_004936515:11,026,156...11,046,812
Ensembl chrNW_004936515:11,025,724...11,046,849
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G |
Spn |
sialophorin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chrNW_004936501:12,773,967...12,776,642
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
protein:increased expression:dermis: CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18390899 PMID:18422975 PMID:21193197 PMID:21335463 |
RGD:6903869 RGD:9068449 |
NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079
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G |
Tgfb1 |
transforming growth factor beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24142982 |
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NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24142982 |
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NCBI chrNW_004936594:3,232,433...3,244,241
Ensembl chrNW_004936594:3,232,355...3,244,241
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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 chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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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 chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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G |
Xpr1 |
xenotropic and polytropic retrovirus receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
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NCBI chrNW_004936481:8,462,714...8,601,824
Ensembl chrNW_004936481:8,462,714...8,602,185
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G |
Ctc1 |
CST telomere replication complex component 1 |
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ISO |
ClinVar Annotator: match by term: Coats plus syndrome |
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 chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593
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G |
Stn1 |
STN1 subunit of CST complex |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936600:2,230,754...2,266,956
Ensembl chrNW_004936600:2,230,705...2,266,968
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G |
Ctc1 |
CST telomere replication complex component 1 |
|
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:34573280 PMID:34706368 More...
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NCBI chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593
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G |
Pfas |
phosphoribosylformylglycinamidine synthase |
|
ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
ClinVar |
PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 PMID:29111009 PMID:29481669 More...
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NCBI chrNW_004936595:1,483,688...1,499,716
Ensembl chrNW_004936595:1,483,689...1,501,364
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G |
Stn1 |
STN1 subunit of CST complex |
|
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 chrNW_004936600:2,230,754...2,266,956
Ensembl chrNW_004936600:2,230,705...2,266,968
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G |
Pot1 |
protection of telomeres 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 |
ClinVar OMIM |
PMID:27013236 PMID:28492532 |
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NCBI chrNW_004936605:836,824...919,099
Ensembl chrNW_004936605:836,769...920,201
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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:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:16025115 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:19380683 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 chrNW_004937067:194,375...246,607
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Phactr1 |
phosphatase and actin regulator 1 |
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ISO |
DNA:SNP:intron: (rs12526453) (human) associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human) DNA:SNP:intron:g.13011943A>G (rs9349379) (human) |
RGD |
PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 |
RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247 |
NCBI chrNW_004936534:42,354...323,735
Ensembl chrNW_004936534:42,433...536,171
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Tnfrsf11b |
TNF receptor superfamily member 11b |
severity |
ISO |
associated with Kidney Failure, Chronic |
RGD |
PMID:22943310 |
RGD:7205482 |
NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089
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G |
Cenpc |
centromere protein C |
|
ISO |
associated with Anticentromere antibody positivity |
RGD |
PMID:25220385 |
RGD:27372886 |
NCBI chrNW_004936582:920,852...978,167
Ensembl chrNW_004936582:920,833...981,373
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G |
Fbn1 |
fibrillin 1 |
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ISO |
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RGD |
PMID:10395706 |
RGD:12910471 |
NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231
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G |
Slc29a1 |
solute carrier family 29 member 1 (Augustine blood group) |
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ISO |
OMIM:106400 |
MouseDO |
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NCBI chrNW_004936476:15,849,054...15,862,486
Ensembl chrNW_004936476:15,846,606...15,862,548
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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 chrNW_004936725:1,751,272...1,897,937
Ensembl chrNW_004936725:1,751,266...1,897,946
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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:3169696 PMID:3237971 PMID:3966479 PMID:6543841 PMID:7054696 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:9179454 PMID:9217223 PMID:9253359 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: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:12574188 PMID:12574201 PMID:12580936 PMID:12733714 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14519094 PMID:14602739 PMID:14714270 PMID:14985373 PMID:14997007 PMID:15201280 PMID:15241688 PMID:15292296 PMID:15531522 PMID:15551332 PMID:15572418 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:15963484 PMID:16128246 PMID:16147994 PMID:16199547 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:23265383 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: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:29846619 PMID:29848507 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30895164 PMID:31063613 PMID:31189130 PMID:31328266 PMID:31433865 PMID:31433868 PMID:31672324 PMID:31883284 PMID:31967040 PMID:32160303 PMID:32347971 PMID:32375028 PMID:32386559 PMID:32430905 PMID:32593617 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32871939 PMID:32892159 PMID:33094630 PMID:33112267 PMID:33147586 PMID:33258288 PMID:33434173 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35733207 PMID:35818129 More...
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NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
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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 chrNW_004936725:1,273,984...1,331,096
Ensembl chrNW_004936725:1,273,946...1,331,109
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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 chrNW_004936536:8,414,491...8,481,712
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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 chrNW_004936536:8,649,890...8,662,472
Ensembl chrNW_004936536:8,649,703...8,662,490
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Dtx3l |
deltex E3 ubiquitin ligase 3L |
|
ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936536:8,844,778...8,853,442
Ensembl chrNW_004936536:8,844,575...8,851,146
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G |
Eaf2 |
ELL associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936536:8,213,794...8,257,595
Ensembl chrNW_004936536:8,213,763...8,258,201
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G |
Fam162a |
family with sequence similarity 162 member A |
|
ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936536:8,697,631...8,725,667
Ensembl chrNW_004936536:8,697,595...8,730,329
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Grhpr |
glyoxylate and hydroxypyruvate reductase |
|
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 chrNW_004936524:5,208,793...5,219,555
Ensembl chrNW_004936524:5,208,492...5,219,970
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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 chrNW_004936725:1,614,637...1,705,111
Ensembl chrNW_004936725:1,614,622...1,705,132
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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 chrNW_004936725:261,809...336,390
Ensembl chrNW_004936725:261,712...336,414
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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 chrNW_004936536:8,976,625...8,994,974
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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 chrNW_004936536:8,351,394...8,383,857
Ensembl chrNW_004936536:8,351,359...8,383,907
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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 chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708
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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 chrNW_004936725:417,824...530,993
Ensembl chrNW_004936725:417,433...532,760
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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 chrNW_004936725:749,382...1,020,702
Ensembl chrNW_004936725:572,868...1,139,142
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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 chrNW_004936536:8,735,159...8,801,385
Ensembl chrNW_004936536:8,737,488...8,801,428
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G |
LOC101962583 |
protein mono-ADP-ribosyltransferase PARP14 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936536:8,923,398...8,976,583
Ensembl chrNW_004936536:8,923,411...8,974,283
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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 chrNW_004936536:8,671,244...8,696,754
Ensembl chrNW_004936536:8,671,172...8,696,886
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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 chrNW_004936725:381,006...400,333
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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 chrNW_004936725:1,418,930...1,594,697
Ensembl chrNW_004936725:1,424,130...1,592,840
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G |
Ocrl |
OCRL inositol polyphosphate-5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis |
ClinVar |
PMID:23047739 PMID:25741868 PMID:26694549 PMID:28492532 |
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NCBI chrNW_004936479:1,955,362...2,011,608
Ensembl chrNW_004936479:1,953,488...2,012,018
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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 chrNW_004936536:8,806,824...8,845,099
Ensembl chrNW_004936536:8,806,818...8,840,746
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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 chrNW_004936725:2,024,646...2,114,530
Ensembl chrNW_004936725:2,024,643...2,114,560
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449
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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 chrNW_004936725:1,254,973...1,267,143
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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 chrNW_004936725:1,906,304...1,982,413
Ensembl chrNW_004936725:1,906,362...1,975,567
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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 chrNW_004936725:2,229,772...2,270,458
Ensembl chrNW_004936725:2,229,764...2,268,894
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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 chrNW_004936725:100,780...237,525
Ensembl chrNW_004936725:100,823...237,223
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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 chrNW_004936536:8,280,537...8,316,011
Ensembl chrNW_004936536:8,280,448...8,316,064
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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 chrNW_004937358:39,940...86,612
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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 chrNW_004937215:127,074...137,281
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G |
Umps |
uridine monophosphate synthetase |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141
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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 chrNW_004936536:8,727,881...8,731,067
Ensembl chrNW_004936536:8,728,735...8,730,367
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G |
Znf148 |
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 chrNW_004936725:6,968...89,762
Ensembl chrNW_004936725:6,962...83,034
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G |
Casr |
calcium sensing receptor |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 |
ClinVar OMIM |
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: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:11134112 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: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: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:30895164 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32430905 PMID:32638038 PMID:32761341 PMID:32892159 PMID:33112267 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34993031 PMID:35300448 PMID:35318962 More...
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NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
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G |
Gna11 |
G protein subunit alpha 11 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
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NCBI chrNW_004936588:1,770,777...1,789,143
Ensembl chrNW_004936588:1,770,771...1,789,170
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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 chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814
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G |
Phex |
phosphate regulating endopeptidase X-linked |
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ISO |
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets |
ClinVar |
PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 PMID:24684036 PMID:25741868 PMID:28492532 PMID:29858904 More...
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NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847
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G |
Vdr |
vitamin D receptor |
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ISO |
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:19682379 PMID:20200114 PMID:21073129 PMID:21168462 PMID:21424181 PMID:21931507 PMID:22145479 PMID:23180655 PMID:24033266 PMID:24246681 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:35738466 More...
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NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
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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 chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807
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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:24033266 PMID:25326635 PMID:25741868 PMID:26857895 PMID:27238374 PMID:27467858 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:35482848 PMID:35738466 More...
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NCBI chrNW_004937067:194,375...246,607
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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 chrNW_004937067:41,573...129,386
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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:10811882 PMID:10835642 PMID:11179012 PMID:11439001 PMID:11474653 PMID:11536079 PMID:11702217 PMID:12176944 PMID:12384774 PMID:12673275 PMID:12714611 PMID:14631379 PMID:15086542 PMID:15459974 PMID:15645653 PMID:15894595 PMID:16086317 PMID:16127278 PMID:16199547 PMID:16410789 PMID:16541094 PMID:16573612 PMID:16835894 PMID:17617515 PMID:18157818 PMID:18253096 PMID:18513494 PMID:18800149 PMID:19339160 PMID:19726431 PMID:20034067 PMID:20075945 PMID:21935449 PMID:22209248 PMID:23483032 PMID:23572048 PMID:24008425 PMID:24033266 PMID:24088041 PMID:25264593 PMID:25265166 PMID:25741868 PMID:26029710 PMID:26633545 PMID:26982014 PMID:27133371 PMID:27994049 PMID:28102862 PMID:28186352 PMID:28492532 PMID:28655553 PMID:29722917 PMID:30154241 PMID:30537162 PMID:30805891 PMID:32873932 PMID:34597610 PMID:36317459 More...
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NCBI chrNW_004936501:3,469,928...3,508,577
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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 |
OMIM ClinVar |
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 More...
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NCBI chrNW_004936526:2,254,463...2,282,785
Ensembl chrNW_004936526:2,254,449...2,282,785
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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 chrNW_004936684:1,689,594...1,762,066
Ensembl chrNW_004936684:1,692,089...1,762,087
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G |
Nt5e |
5'-nucleotidase ecto |
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ISO |
ClinVar Annotator: match by term: Calcification of joints and arteries | ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome |
OMIM ClinVar |
PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936510:5,797,218...5,846,118
Ensembl chrNW_004936510:5,797,212...5,846,124
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G |
Tnfrsf11b |
TNF receptor superfamily member 11b |
|
ISO |
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum |
RGD |
PMID:22386825 |
RGD:7205494 |
NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089
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G |
Pth |
parathyroid hormone |
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ISO |
protein:decreased expression:plasma (mouse) |
RGD |
PMID:19570882 |
RGD:7242924 |
NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
OMIM:241530 DNA:deletions, snps:multiple (human) |
RGD MouseDO |
PMID:16358215 PMID:19570882 |
RGD:7242924 RGD:7242925 |
NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
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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 |
OMIM ClinVar |
PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 PMID:16849419 PMID:17576681 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:32963591 PMID:33223529 PMID:33226606 PMID:33532864 PMID:34805638 More...
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NCBI chrNW_004936669:755,091...760,365
Ensembl chrNW_004936669:755,528...760,522
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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 chrNW_004936528:3,800,801...3,806,000
Ensembl chrNW_004936528:3,800,577...3,805,004
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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 chrNW_004936803:423,558...466,762
Ensembl chrNW_004936803:422,890...466,730
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G |
Casr |
calcium sensing receptor |
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ISO |
ClinVar Annotator: match by term: Hypercalcemia |
ClinVar |
PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:31672324 More...
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NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
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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 chrNW_004936549:7,015,595...7,016,246
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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 chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
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G |
LOC101957714 |
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22337913 |
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NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
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G |
LOC101978323 |
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20427501 |
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NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
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G |
Pth |
parathyroid hormone |
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ISO |
CTD Direct Evidence: marker/mechanism associated with Kidney Failure, Chronic |
CTD RGD |
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 PMID:23261531 More...
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RGD:7242689 |
NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
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G |
Pth1r |
parathyroid hormone 1 receptor |
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ISO |
protein:increased expression:odontoblast; associated with neoplasms |
RGD |
PMID:16036863 |
RGD:1599980 |
NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213
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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 chrNW_004936760:197,525...209,212
Ensembl chrNW_004936760:197,525...209,518
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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 chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
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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 chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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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 chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089
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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 chrNW_004936747:1,255,803...1,288,252
Ensembl chrNW_004936747:1,255,803...1,288,252
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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 chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
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G |
LOC101957714 |
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial |
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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:26846157 PMID:27394135 PMID:27798933 PMID:28109821 PMID:28470390 PMID:28492532 PMID:32375123 PMID:33952337 More...
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NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
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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:28492532 PMID:28893421 PMID:29924459 PMID:29959532 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
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NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
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Casr |
calcium sensing receptor |
susceptibility no_association |
ISO |
associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human) associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human) mRNA, protein:increased expression:kidney (rat) DNA:missense mutation: :p.E1011Q (human) |
RGD |
PMID:12239240 PMID:19887834 PMID:20602573 PMID:22137721 |
RGD:7205445 RGD:7205502 RGD:7205666 RGD:7205675 |
NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
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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 chrNW_004936578:5,774...25,621
Ensembl chrNW_004936578:5,774...25,350
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G |
LOC101957714 |
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22337913 |
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NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
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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 chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
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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 chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:9560283 PMID:21784483 |
RGD:7242936 |
NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
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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 chrNW_004936669:755,091...760,365
Ensembl chrNW_004936669:755,528...760,522
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G |
Vdr |
vitamin D receptor |
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ISO |
protein:increased expression:kidney, small intestine |
RGD |
PMID:19929616 |
RGD:4889914 |
NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
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G |
Adcy10 |
adenylate cyclase 10 |
susceptibility |
ISO |
ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria |
OMIM ClinVar |
PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 PMID:28492532 More...
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NCBI chrNW_004936481:18,274,158...18,330,136
Ensembl chrNW_004936481:18,274,154...18,330,173
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G |
Dcaf6 |
DDB1 and CUL4 associated factor 6 |
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ISO |
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 chrNW_004936481:18,133,115...18,228,122
Ensembl chrNW_004936481:18,133,497...18,228,120
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G |
Kl |
klotho |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20394945 |
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NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
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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:29389098 More...
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NCBI chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Cortical hyperostosis with hyperphosphatemia | ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome |
ClinVar |
PMID:15133511 PMID:20358599 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657
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G |
Kl |
klotho |
|
ISO |
ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome |
ClinVar |
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NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
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G |
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 chrNW_004936709:1,148,454...1,158,069
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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 chrNW_004936606:1,911,104...2,007,109
Ensembl chrNW_004936606:1,948,743...2,007,163
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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 chrNW_004936870:25,039...34,601
Ensembl chrNW_004936870:25,039...34,601
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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 chrNW_004936606:4,771,158...4,794,666
Ensembl chrNW_004936606:4,771,180...4,794,902
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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 chrNW_004936709:1,771,763...2,097,668
Ensembl chrNW_004936709:1,745,804...2,096,989
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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 chrNW_004939393:628...6,234
Ensembl chrNW_004939393:628...6,201
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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 chrNW_004936709:886,571...894,746
Ensembl chrNW_004936709:887,455...894,727
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G |
B4galnt3 |
beta-1,4-N-acetyl-galactosaminyltransferase 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 chrNW_004936606:716,697...751,392
Ensembl chrNW_004936606:645,673...749,370
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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 chrNW_004936709:709,001...719,758
Ensembl chrNW_004936709:708,968...720,478
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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 chrNW_004936709:695,898...705,189
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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 chrNW_004936709:731,211...742,583
Ensembl chrNW_004936709:731,165...742,686
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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 chrNW_004936892:347,547...355,143
Ensembl chrNW_004936892:347,842...349,296
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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 chrNW_004936606:2,168,104...2,867,560
Ensembl chrNW_004936606:2,168,625...2,865,758
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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 chrNW_004936606:2,011,454...2,118,255
Ensembl chrNW_004936606:2,012,156...2,118,167
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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 chrNW_004936606:570,536...619,688
Ensembl chrNW_004936606:586,449...619,067
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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 chrNW_004936606:4,474,801...4,496,158
Ensembl chrNW_004936606:4,474,749...4,496,810
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G |
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 chrNW_004936709:1,312,434...1,317,592
Ensembl chrNW_004936709:1,312,448...1,317,378
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G |
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 chrNW_004936709:997,776...1,022,791
Ensembl chrNW_004936709:997,750...1,022,884
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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 chrNW_004936709:1,497,504...1,530,114
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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 chrNW_004936709:966,559...969,667
Ensembl chrNW_004936709:967,294...968,896
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G |
Chd4 |
chromodomain helicase DNA binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936709:1,183,243...1,214,144
Ensembl chrNW_004936709:1,183,254...1,214,149
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G |
Clec4d |
C-type lectin domain family 4 member D |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936858:303,639...312,092
Ensembl chrNW_004936858:303,639...312,083
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G |
Clec4e |
C-type lectin domain family 4 member E |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936858:316,954...321,668
Ensembl chrNW_004936858:316,954...321,668
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G |
Clstn3 |
calsyntenin 3 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936709:641,615...673,309
Ensembl chrNW_004936709:637,641...673,314
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G |
Cops7a |
COP9 signalosome subunit 7A |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936709:1,081,070...1,087,151
Ensembl chrNW_004936709:1,080,696...1,087,062
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G |
Cracr2a |
calcium release activated channel regulator 2A |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936606:3,880,214...3,970,278
Ensembl chrNW_004936606:3,882,276...3,955,765
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G |
CUNH12orf57 |
chromosome unknown C12orf57 homolog |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936709:884,741...886,617
Ensembl chrNW_004936709:884,741...886,895
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G |
Dcp1b |
decapping mRNA 1B |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936606:2,145,289...2,196,157
Ensembl chrNW_004936606:2,145,260...2,196,193
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G |
Dyrk4 |
dual specificity tyrosine phosphorylation regulated kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936606:4,740,227...4,769,734
Ensembl chrNW_004936606:4,718,533...4,769,524
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G |
Emg1 |
EMG1 N1-specific pseudouridine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936709:847,229...854,471
Ensembl chrNW_004936709:845,633...854,976
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G |
Eno2 |
enolase 2 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936709:904,647...913,445
Ensembl chrNW_004936709:904,031...913,451
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G |
Erc1 |
ELKS/RAB6-interacting/CAST family member 1 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936606:1,201,420...1,713,894
Ensembl chrNW_004936606:1,201,657...1,708,551
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G |
Fbxl14 |
F-box and leucine rich repeat protein 14 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936606:1,802,833...1,806,870
Ensembl chrNW_004936606:1,805,827...1,806,870
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G |
Ferry3 |
FERRY endosomal RAB5 effector complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936606:4,660,203...4,697,065
Ensembl chrNW_004936606:4,659,340...4,697,060
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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 chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961
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G |
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 chrNW_004936606:4,613,052...4,624,587
Ensembl chrNW_004936606:4,613,048...4,624,587
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G |
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 chrNW_004936606:3,122,798...3,131,352
Ensembl chrNW_004936606:3,122,736...3,134,823
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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 chrNW_004936892:324,103...344,739
Ensembl chrNW_004936892:331,239...344,624
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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 chrNW_004936606:3,185,289...3,198,427
Ensembl chrNW_004936606:3,185,982...3,198,378
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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:8338191 PMID:9536098 PMID:13774168 PMID:15133511 PMID:15599692 PMID:15687324 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 chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657
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G |
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 chrNW_004936606:4,883,434...4,947,621
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G |
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 chrNW_004936709:1,243,149...1,247,782
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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 chrNW_004937847:8,179...16,783
Ensembl chrNW_004937847:7,456...16,783
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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 chrNW_004936709:970,169...977,059
Ensembl chrNW_004936709:970,172...976,863
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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 chrNW_004936709:990,690...996,849
Ensembl chrNW_004936709:990,202...996,854
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G |
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 chrNW_004936709:1,228,589...1,242,349
Ensembl chrNW_004936709:1,228,606...1,242,349
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G |
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 chrNW_004936709:1,140,485...1,147,982
Ensembl chrNW_004936709:1,140,345...1,149,843
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G |
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 chrNW_004936606:271,217...388,505
Ensembl chrNW_004936606:271,291...374,940
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G |
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 chrNW_004936606:3,144,616...3,158,825
Ensembl chrNW_004936606:3,144,602...3,158,890
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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 chrNW_004936606:4,969,282...4,972,383
Ensembl chrNW_004936606:4,969,787...4,971,446
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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 chrNW_004936606:486,424...570,546
Ensembl chrNW_004936606:485,655...570,739
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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:29389098 |
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NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
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G |
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 chrNW_004936870:339,526...352,807
Ensembl chrNW_004936870:339,521...353,207
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G |
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 chrNW_004936709:1,041,519...1,048,630
Ensembl chrNW_004936709:1,041,530...1,047,280
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G |
LOC101959799 |
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 chrNW_004937109:142,711...144,257
Ensembl chrNW_004937109:142,711...144,198
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G |
LOC101965910 |
C-type lectin domain family 4 member A |
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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 chrNW_004936892:454,036...467,957
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G |
LOC101972289 |
protein FAM90A27P |
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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 chrNW_004937327:19,316...24,170
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G |
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 |
|
NCBI chrNW_004936709:1,170,042...1,172,148
Ensembl chrNW_004936709:1,170,215...1,171,388
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G |
Lpcat3 |
lysophosphatidylcholine acyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936709:800,197...852,659
Ensembl chrNW_004936709:799,961...851,585
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G |
Lrrc23 |
leucine rich repeat containing 23 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936709:914,077...923,169
Ensembl chrNW_004936709:914,789...922,466
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G |
Lrtm2 |
leucine rich repeats and transmembrane domains 2 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936606:2,035,359...2,052,188
Ensembl chrNW_004936606:2,042,844...2,055,028
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G |
Ltbr |
lymphotoxin beta receptor |
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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 chrNW_004936709:1,362,846...1,369,287
Ensembl chrNW_004936709:1,362,840...1,369,365
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G |
M6pr |
mannose-6-phosphate receptor, cation dependent |
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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 chrNW_004936870:300,742...310,876
Ensembl chrNW_004936870:302,166...307,134
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G |
Mfap5 |
microfibril associated protein 5 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936870:58,863...65,844
Ensembl chrNW_004936870:57,015...71,325
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G |
Mlf2 |
myeloid leukemia factor 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 chrNW_004936709:1,053,408...1,070,253
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G |
Mrpl51 |
mitochondrial ribosomal protein L51 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936709:1,275,888...1,277,025
Ensembl chrNW_004936709:1,275,890...1,277,025
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G |
Nanog |
Nanog homeobox |
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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 chrNW_004936892:181,834...187,691
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G |
Nanognb |
NANOG neighbor homeobox |
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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 chrNW_004936870:763,004...765,847
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G |
Ncapd2 |
non-SMC condensin I complex subunit 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 chrNW_004936709:1,250,442...1,275,823
Ensembl chrNW_004936709:1,250,495...1,275,769
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G |
Ndufa9 |
NADH:ubiquinone oxidoreductase subunit A9 |
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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 chrNW_004936606:4,794,701...4,825,696
Ensembl chrNW_004936606:4,794,749...4,825,570
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G |
Necap1 |
NECAP endocytosis associated 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 chrNW_004936892:372,743...385,127
Ensembl chrNW_004936892:372,284...385,202
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G |
Ninj2 |
ninjurin 2 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936606:752,782...849,264
Ensembl chrNW_004936606:752,581...755,559
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G |
Nop2 |
NOP2 nucleolar 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 chrNW_004936709:1,215,100...1,228,117
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G |
Nrip2 |
nuclear receptor interacting protein 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 chrNW_004936606:3,159,049...3,167,629
Ensembl chrNW_004936606:3,158,910...3,167,578
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G |
Ntf3 |
neurotrophin 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 chrNW_004936709:2,163,510...2,223,429
Ensembl chrNW_004936709:2,163,334...2,223,552
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G |
P3h3 |
prolyl 3-hydroxylase 3 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936709:977,851...989,949
Ensembl chrNW_004936709:978,229...989,874
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G |
Parp11 |
poly(ADP-ribose) polymerase family member 11 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936606:4,062,301...4,120,389
Ensembl chrNW_004936606:4,063,171...4,120,397
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247
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G |
Phb2 |
prohibitin 2 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936709:854,493...859,182
Ensembl chrNW_004936709:854,698...858,851
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G |
Phc1 |
polyhomeotic homolog 1 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936870:275,764...300,460
Ensembl chrNW_004936870:277,252...303,125
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G |
Pianp |
PILR alpha associated neural protein |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936709:1,102,730...1,111,143
Ensembl chrNW_004936709:1,102,477...1,110,420
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G |
Plekhg6 |
pleckstrin homology and RhoGEF domain containing G6 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936709:1,421,550...1,437,950
Ensembl chrNW_004936709:1,421,531...1,438,003
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G |
Prmt8 |
protein arginine methyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936606:3,812,030...3,864,349
Ensembl chrNW_004936606:3,811,975...3,864,394
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G |
Ptms |
parathymosin |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936709:1,049,455...1,050,892
Ensembl chrNW_004936709:1,049,964...1,050,769
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G |
Ptpn6 |
protein tyrosine phosphatase non-receptor type 6 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936709:864,206...884,630
Ensembl chrNW_004936709:864,197...884,610
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G |
Rad51ap1 |
RAD51 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936606:4,697,369...4,716,006
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G |
Rad52 |
RAD52 homolog, DNA repair protein |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936606:1,070,336...1,099,684
Ensembl chrNW_004936606:1,066,905...1,099,703
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G |
Rbp5 |
retinol binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936709:673,383...679,173
Ensembl chrNW_004936709:674,819...679,503
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G |
Rhno1 |
RAD9-HUS1-RAD1 interacting nuclear orphan 1 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936606:3,201,540...3,208,019
Ensembl chrNW_004936606:3,201,504...3,208,342
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G |
Rimklb |
ribosomal modification protein rimK like family member B |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936870:93,084...175,154
Ensembl chrNW_004936870:93,012...164,930
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G |
Scnn1a |
sodium channel epithelial 1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936709:1,377,852...1,403,398
Ensembl chrNW_004936709:1,377,831...1,403,833
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G |
Slc6a12 |
solute carrier family 6 member 12 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936606:387,342...412,684
Ensembl chrNW_004936606:384,124...411,698
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G |
Slc6a13 |
solute carrier family 6 member 13 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936606:416,170...455,720
Ensembl chrNW_004936606:415,177...455,721
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G |
Spsb2 |
splA/ryanodine receptor domain and SOCS box containing 2 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936709:945,322...948,101
Ensembl chrNW_004936709:945,201...951,441
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G |
Tapbpl |
TAP binding protein like |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chrNW_004936709:1,304,843...1,313,191
Ensembl chrNW_004936709:1,304,971...1,313,770
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G |
Tead4 |
TEA domain transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 |
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chrNW_004936606:3,310,905...3,358,519
Ensembl chrNW_004936606:3,310,823...3,356,509
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Tex52 |
testis expressed 52 |
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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 chrNW_004936606:3,178,727...3,184,288
Ensembl chrNW_004936606:3,178,727...3,183,796
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G |
Tigar |
TP53 induced glycolysis regulatory phosphatase |
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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 chrNW_004936606:4,518,525...4,540,109
Ensembl chrNW_004936606:4,518,584...4,540,114
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
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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 chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921
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G |
Tpi1 |
triosephosphate isomerase 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 chrNW_004936709:948,151...951,430
Ensembl chrNW_004936709:945,201...951,441
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G |
Tspan9 |
tetraspanin 9 |
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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 chrNW_004936606:3,398,745...3,589,647
Ensembl chrNW_004936606:3,506,357...3,586,849
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G |
Tulp3 |
TUB like 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 chrNW_004936606:3,209,170...3,278,809
Ensembl chrNW_004936606:3,209,141...3,278,563
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G |
Usp5 |
ubiquitin specific peptidase 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 chrNW_004936709:952,225...966,429
Ensembl chrNW_004936709:952,182...966,498
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G |
Vamp1 |
vesicle associated membrane protein 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 chrNW_004936709:1,297,820...1,304,793
Ensembl chrNW_004936709:1,297,743...1,304,899
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G |
Vwf |
von Willebrand factor |
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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 chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754
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G |
Wnk1 |
WNK lysine deficient protein kinase 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 chrNW_004936606:933,637...1,069,885
Ensembl chrNW_004936606:934,337...1,067,275
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G |
Wnt5b |
Wnt family member 5B |
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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 chrNW_004936606:1,741,500...1,854,857
Ensembl chrNW_004936606:1,838,043...1,856,095
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G |
Znf384 |
zinc finger protein 384 |
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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 chrNW_004936709:1,114,105...1,137,918
Ensembl chrNW_004936709:1,113,974...1,138,478
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G |
Fgf23 |
fibroblast growth factor 23 |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2 |
OMIM ClinVar |
PMID:11062477 PMID:15590700 PMID:15687325 PMID:16030159 PMID:16151858 PMID:18682534 PMID:18982401 PMID:19837926 PMID:22419710 PMID:24033266 PMID:25445451 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29389098 More...
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NCBI chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961
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G |
Kl |
klotho |
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ISO |
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098 PMID:32870266 PMID:34906475 More...
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NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
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G |
Casr |
calcium sensing receptor |
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ISO |
ClinVar Annotator: match by term: Hypocalcemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3017235 |
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NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
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G |
Pth |
parathyroid hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11701698 PMID:11770836 |
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NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
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G |
Tbx1 |
T-box transcription factor 1 |
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ISO |
DNA:frameshift mutation:CDS:p.G387AfsX73 (human) |
RGD |
PMID:32110744 |
RGD:155641234 |
NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525
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G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar |
PMID:24033266 PMID:25741868 PMID:35738466 |
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NCBI chrNW_004936905:419,478...427,335
Ensembl chrNW_004936905:420,354...427,324
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar |
PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:16025115 PMID:16607460 PMID:16968801 PMID:18950909 PMID:20981035 PMID:25741868 PMID:27238374 PMID:28492532 PMID:29979387 PMID:35738466 More...
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NCBI chrNW_004937067:194,375...246,607
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G |
Fam20c |
FAM20C golgi associated secretory pathway kinase |
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ISO |
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RGD |
PMID:22615579 |
RGD:11558021 |
NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098
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G |
Fgf23 |
fibroblast growth factor 23 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar |
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:21880793 PMID:25741868 PMID:26186302 PMID:28492532 PMID:35738466 More...
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NCBI chrNW_004936606:4,555,034...4,561,961
Ensembl chrNW_004936606:4,555,034...4,561,961
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar |
PMID:25741868 PMID:35738466 |
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NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958
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G |
Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar |
PMID:25741868 PMID:35738466 |
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NCBI chrNW_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083
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G |
Phex |
phosphate regulating endopeptidase X-linked |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar |
PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 PMID:11004247 PMID:11468271 PMID:12414858 PMID:12727977 PMID:16199547 PMID:18162710 PMID:18625346 PMID:19219621 PMID:22261628 PMID:22695891 PMID:23466123 PMID:24684036 PMID:24836714 PMID:25031893 PMID:25741868 PMID:25741895 PMID:26040324 PMID:26467025 PMID:27840894 PMID:28492532 PMID:29460029 PMID:29505567 PMID:29707405 PMID:29858904 PMID:30298486 PMID:30607568 PMID:30682568 PMID:35738466 More...
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NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847
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G |
Vdr |
vitamin D receptor |
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ISO |
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS |
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:19682379 PMID:20200114 PMID:21073129 PMID:21168462 PMID:21424181 PMID:21931507 PMID:22145479 PMID:23180655 PMID:24033266 PMID:24246681 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:35738466 More...
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NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
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G |
Wdr72 |
WD repeat domain 72 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar |
PMID:31959358 |
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NCBI chrNW_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415
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G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 PMID:17576681 PMID:19007919 PMID:21050253 PMID:25741868 PMID:25741895 PMID:28492532 More...
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NCBI chrNW_004936905:419,478...427,335
Ensembl chrNW_004936905:420,354...427,324
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 |
ClinVar OMIM |
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:15677494 PMID:16025115 PMID:16315058 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:19229237 PMID:20016754 PMID:20137772 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:25741868 PMID:26857895 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:28973083 PMID:29244957 PMID:29979387 PMID:31826312 PMID:33005041 PMID:34609116 PMID:35738466 More...
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NCBI chrNW_004937067:194,375...246,607
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G |
Chrna6 |
cholinergic receptor nicotinic alpha 6 subunit |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chrNW_004936785:17,588...28,565
Ensembl chrNW_004936785:18,147...27,409
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G |
Chrnb3 |
cholinergic receptor nicotinic beta 3 subunit |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chrNW_004936785:46,076...72,529
Ensembl chrNW_004936785:46,796...72,640
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G |
Duox2 |
dual oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
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NCBI chrNW_004936471:7,812,163...7,831,258
Ensembl chrNW_004936471:7,813,128...7,831,258
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G |
Fnta |
farnesyltransferase, CAAX box, subunit alpha |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chrNW_004936570:362,655...389,649
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G |
Hook3 |
hook microtubule tethering protein 3 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chrNW_004937108:873...110,949
Ensembl chrNW_004937108:60...110,939
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
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G |
Rnf170 |
ring finger protein 170 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chrNW_004937108:111,111...147,077
Ensembl chrNW_004937108:117,881...150,498
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G |
Slc20a2 |
solute carrier family 20 member 2 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition |
OMIM ClinVar |
PMID:20301594 PMID:22327515 PMID:23334463 PMID:23437308 PMID:24209445 PMID:25178512 PMID:25284758 PMID:25741868 PMID:26475232 PMID:27726124 PMID:27943094 PMID:28391956 PMID:28477710 PMID:28492532 PMID:30609140 PMID:31618668 PMID:32705272 PMID:34732400 More...
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NCBI chrNW_004936785:177,134...285,467
Ensembl chrNW_004936785:181,127...285,209
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G |
Smim19 |
small integral membrane protein 19 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chrNW_004936785:165,612...176,784
Ensembl chrNW_004936785:164,648...176,797
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G |
Thap1 |
THAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 |
ClinVar |
PMID:27726124 |
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NCBI chrNW_004937108:157,652...162,015
Ensembl chrNW_004937108:157,578...164,564
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 |
OMIM ClinVar |
PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 PMID:23255827 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25741868 PMID:26455322 PMID:28166811 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:31064749 PMID:34494111 More...
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NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 |
OMIM ClinVar |
PMID:21409505 PMID:23913003 PMID:25741868 |
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NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
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G |
Xpr1 |
xenotropic and polytropic retrovirus receptor 1 |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification |
OMIM ClinVar |
PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 |
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NCBI chrNW_004936481:8,462,714...8,601,824
Ensembl chrNW_004936481:8,462,714...8,602,185
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G |
Myorg |
myogenesis regulating glycosidase (putative) |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 PMID:30649222 PMID:30656188 PMID:31009047 PMID:31440850 PMID:31951047 PMID:32211515 More...
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NCBI chrNW_004936524:2,472,611...2,494,478
Ensembl chrNW_004936524:2,472,624...2,492,768 Ensembl chrNW_004936524:2,472,624...2,492,768
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G |
Jam2 |
junctional adhesion molecule 2 |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive | ClinVar Annotator: match by term: JAM2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26136916 PMID:31851307 PMID:32142645 |
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NCBI chrNW_004936640:1,930,450...1,984,438
Ensembl chrNW_004936640:1,929,255...1,984,872
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G |
Ifih1 |
interferon induced with helicase C domain 1 |
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ISO |
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903
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G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,836,851...1,850,279
Ensembl chrNW_004936737:1,836,897...1,848,989
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G |
Actrt2 |
actin related protein T2 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:765,125...766,432
Ensembl chrNW_004936737:765,125...766,432
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G |
Agrn |
agrin |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:2,010,647...2,041,401
Ensembl chrNW_004936737:2,011,724...2,039,796
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G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,751,065...1,753,843
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G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:369,872...383,671
Ensembl chrNW_004936737:369,852...383,719
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G |
Aurkaip1 |
aurora kinase A interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,776,550...1,778,233
Ensembl chrNW_004936737:1,776,480...1,779,611
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G |
B3galt6 |
beta-1,3-galactosyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,887,250...1,889,055
Ensembl chrNW_004936737:1,887,855...1,888,826
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G |
C1qtnf12 |
C1q and TNF related 12 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,877,428...1,881,345
Ensembl chrNW_004936737:1,877,191...1,881,360
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G |
Calml6 |
calmodulin like 6 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,468,172...1,470,326
Ensembl chrNW_004936737:1,468,269...1,469,445
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G |
Ccdc27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:144,398...157,262
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G |
Ccnl2 |
cyclin L2 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,765,027...1,773,156
Ensembl chrNW_004936737:1,764,189...1,772,475
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G |
Cep104 |
centrosomal protein 104 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:98,346...127,932
Ensembl chrNW_004936737:98,365...129,671
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G |
Cfap74 |
cilia and flagella associated protein 74 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,416,475...1,465,984
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G |
Cptp |
ceramide-1-phosphate transfer protein |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,816,461...1,820,353
Ensembl chrNW_004936737:1,816,475...1,820,320
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G |
CUNH1orf159 |
chromosome unknown C1orf159 homolog |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,975,031...1,991,058
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G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,797,348...1,811,043
Ensembl chrNW_004936737:1,797,326...1,810,286
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G |
Faap20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,296,152...1,300,038
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G |
Fndc10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,658,932...1,668,081
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G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,400,437...1,405,885
Ensembl chrNW_004936737:1,400,395...1,406,119
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G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,518,855...1,554,926
Ensembl chrNW_004936737:1,524,325...1,555,102
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G |
Hes4 |
hes family bHLH transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:2,054,879...2,056,126
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G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,045,496...1,047,865
Ensembl chrNW_004936737:1,046,613...1,047,950
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G |
Ints11 |
integrator complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,820,472...1,833,301
Ensembl chrNW_004936737:1,822,826...1,833,104
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G |
Isg15 |
ISG15 ubiquitin like modifier |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
OMIM ClinVar |
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 PMID:21031596 PMID:22859821 PMID:24033266 PMID:25307056 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 PMID:32402279 More...
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NCBI chrNW_004936737:2,043,383...2,044,761
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G |
Klhl17 |
kelch like family member 17 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:2,080,699...2,086,252
Ensembl chrNW_004936737:2,079,582...2,086,152
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G |
Lrrc47 |
leucine rich repeat containing 47 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chrNW_004936737:129,781...139,139
Ensembl chrNW_004936737:129,724...139,468
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G |
Megf6 |
multiple EGF like domains 6 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chrNW_004936737:269,629...364,809
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G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,633,495...1,646,598
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G |
Mmel1 |
membrane metalloendopeptidase like 1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:970,504...997,452
Ensembl chrNW_004936737:970,504...997,067
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G |
Mmp23b |
matrix metallopeptidase 23B |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chrNW_004936737:1,628,915...1,632,023
Ensembl chrNW_004936737:1,629,639...1,632,023
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G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,166,183...1,214,517
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G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chrNW_004936737:1,760,236...1,761,776
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G |
Mxra8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,790,653...1,794,749
Ensembl chrNW_004936737:1,790,587...1,794,796
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G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,568,304...1,579,929
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G |
Noc2l |
NOC2 like nucleolar associated transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:2,087,123...2,098,153
Ensembl chrNW_004936737:2,087,158...2,098,156
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G |
Pank4 |
pantothenate kinase 4 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,049,467...1,064,548
Ensembl chrNW_004936737:1,048,597...1,065,364
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718
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G |
Plch2 |
phospholipase C eta 2 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chrNW_004936737:1,066,860...1,131,627
Ensembl chrNW_004936737:1,066,825...1,133,216
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G |
Plekhn1 |
pleckstrin homology domain containing N1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:2,072,857...2,079,855
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G |
Prdm16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:400,819...446,768
Ensembl chrNW_004936737:404,846...446,985
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G |
Prkcz |
protein kinase C zeta |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,303,502...1,383,135
Ensembl chrNW_004936737:1,303,887...1,321,944
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G |
Prxl2b |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:998,313...1,000,757
Ensembl chrNW_004936737:998,186...1,000,764
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G |
Pusl1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,833,298...1,836,101
Ensembl chrNW_004936737:1,833,798...1,836,696
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G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,152,937...1,164,817
Ensembl chrNW_004936737:1,152,937...1,164,616
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G |
Rnf223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,992,117...1,997,810
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G |
Scnn1d |
sodium channel epithelial 1 subunit delta |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,851,185...1,854,923
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G |
Sdf4 |
stromal cell derived factor 4 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,889,123...1,898,303
Ensembl chrNW_004936737:1,891,415...1,898,904
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G |
Ski |
SKI proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,223,653...1,274,664
Ensembl chrNW_004936737:1,222,341...1,276,631
|
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G |
Smim1 |
small integral membrane protein 1 (Vel blood group) |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:141,024...141,851
Ensembl chrNW_004936737:140,702...143,791
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G |
Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,678,425...1,705,569
Ensembl chrNW_004936737:1,678,425...1,705,609
|
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G |
Tas1r3 |
taste 1 receptor member 3 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,811,123...1,814,982
Ensembl chrNW_004936737:1,811,815...1,814,982
|
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G |
Tmem240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,710,311...1,711,882
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G |
Tmem52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,466,168...1,468,003
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G |
Tmem88b |
transmembrane protein 88B |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chrNW_004936737:1,746,208...1,746,947
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G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,008,228...1,013,575
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Tnfrsf18 |
TNF receptor superfamily member 18 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,905,307...1,910,356
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Tnfrsf4 |
TNF receptor superfamily member 4 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,901,749...1,904,382
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Tp73 |
tumor protein p73 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464
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Tprg1l |
tumor protein p63 regulated 1 like |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:253,752...258,767
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Ttc34 |
tetratricopeptide repeat domain 34 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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Ttll10 |
tubulin tyrosine ligase like 10 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,910,286...1,926,061
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Ube2j2 |
ubiquitin conjugating enzyme E2 J2 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,862,577...1,875,216
Ensembl chrNW_004936737:1,862,578...1,875,248
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Vwa1 |
von Willebrand factor A domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:1,733,837...1,738,861
Ensembl chrNW_004936737:1,733,854...1,738,792
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Wrap73 |
WD repeat containing, antisense to TP73 |
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ISO |
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chrNW_004936737:238,615...253,495
Ensembl chrNW_004936737:238,573...255,356
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LOC101957714 |
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Infantile hypercalcemia |
ClinVar |
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NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
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Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
ClinVar Annotator: match by term: Hypercalcemia, infantile |
ClinVar |
PMID:24033266 PMID:25741868 |
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NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
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G |
Trpm6 |
transient receptor potential cation channel subfamily M member 6 |
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ISO |
ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 |
OMIM ClinVar |
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 PMID:23942199 PMID:24030239 PMID:24985022 PMID:25741868 PMID:26813946 PMID:28492532 PMID:33565749 PMID:34906502 More...
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NCBI chrNW_004936503:10,508,989...10,637,424
Ensembl chrNW_004936503:10,508,989...10,616,972
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Trpm7 |
transient receptor potential cation channel subfamily M member 7 |
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ISO |
ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 |
ClinVar |
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NCBI chrNW_004936471:12,564,617...12,666,229
Ensembl chrNW_004936471:12,565,054...12,665,962
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Fam111a |
FAM111 trypsin like peptidase A |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome |
OMIM ClinVar |
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 PMID:28492532 PMID:29073591 PMID:32996714 More...
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NCBI chrNW_004936581:3,482,649...3,488,331
Ensembl chrNW_004936581:3,480,412...3,490,195
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Tbce |
tubulin folding cofactor E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12389028 |
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NCBI chrNW_004936484:17,048,187...17,097,414
Ensembl chrNW_004936484:17,046,284...17,095,744
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Mgp |
matrix Gla protein |
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ISO |
ClinVar Annotator: match by term: Keutel syndrome |
OMIM ClinVar |
PMID:9916809 PMID:15810001 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936587:2,601,419...2,605,848
Ensembl chrNW_004936587:2,601,312...2,605,870
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Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts |
ClinVar |
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NCBI chrNW_004936595:1,310,556...1,321,974
Ensembl chrNW_004936595:1,310,534...1,321,985
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Tmem107 |
transmembrane protein 107 |
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ISO |
ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts |
ClinVar |
PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 PMID:29970281 PMID:29984895 PMID:29984898 PMID:29996189 PMID:30794980 PMID:31521395 PMID:32342562 PMID:33029936 PMID:35710456 PMID:36237624 PMID:37761957 More...
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NCBI chrNW_004936595:1,404,017...1,406,756
Ensembl chrNW_004936595:1,403,442...1,406,783
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Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis |
OMIM ClinVar |
PMID:7915957 PMID:8559248 PMID:9062355 PMID:9187673 PMID:9734595 PMID:11136179 PMID:15719255 PMID:15895257 PMID:16822791 PMID:18038239 PMID:19076289 PMID:19546586 PMID:19546591 PMID:22876375 PMID:24081861 PMID:25741868 PMID:25907713 PMID:26822237 PMID:27117801 PMID:27889724 PMID:28492532 PMID:28580211 PMID:31672324 PMID:32683654 More...
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NCBI chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814
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Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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ISO |
ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy |
ClinVar |
PMID:9536098 PMID:15940697 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004937067:194,375...246,607
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Ammecr1 |
AMMECR nuclear protein 1 |
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ISO |
ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
OMIM ClinVar |
PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 PMID:29174631 PMID:29193635 More...
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NCBI chrNW_004936499:4,910,687...5,023,252
Ensembl chrNW_004936499:4,910,686...5,023,293
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Rtl9 |
retrotransposon Gag like 9 |
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ISO |
ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
ClinVar |
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NCBI chrNW_004936499:4,771,535...4,782,768
Ensembl chrNW_004936499:4,771,535...4,777,111
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Tmem164 |
transmembrane protein 164 |
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ISO |
ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
ClinVar |
PMID:21681106 PMID:27811305 PMID:28089922 |
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NCBI chrNW_004936499:5,042,638...5,199,433
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Agxt |
alanine--glyoxylate and serine--pyruvate aminotransferase |
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ISO |
ClinVar Annotator: match by term: Nephrocalcinosis |
ClinVar |
PMID:8101040 PMID:9136629 PMID:9192270 PMID:10541294 PMID:10960483 PMID:12777626 PMID:15327387 PMID:15802217 PMID:15961946 PMID:16912707 PMID:17460142 PMID:17495019 PMID:19155213 PMID:19479957 PMID:20133649 PMID:23229545 PMID:24012869 PMID:24055001 PMID:24718375 PMID:24988064 PMID:25629080 PMID:25741868 PMID:28492532 PMID:28893421 PMID:31078535 PMID:35695965 More...
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NCBI chrNW_004936745:856,915...867,477
Ensembl chrNW_004936745:857,102...867,477
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Atp6v1b1 |
ATPase H+ transporting V1 subunit B1 |
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ISO |
ClinVar Annotator: match by term: Nephrocalcinosis |
ClinVar |
PMID:9916796 PMID:12414817 PMID:16199547 PMID:16611712 PMID:16769747 PMID:18368028 PMID:22509993 PMID:25285676 PMID:25741868 PMID:28233610 PMID:28492532 PMID:28893421 PMID:31549751 PMID:31733597 PMID:31959358 More...
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NCBI chrNW_004936491:15,112,422...15,138,716
Ensembl chrNW_004936491:15,112,321...15,139,525
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Brd4 |
bromodomain containing 4 |
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ISO |
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MouseDO |
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NCBI chrNW_004936596:5,176,682...5,246,102
Ensembl chrNW_004936596:5,177,147...5,246,518
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G |
Cldn16 |
claudin 16 |
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ISO |
ClinVar Annotator: match by term: Nephrocalcinosis |
ClinVar |
PMID:10390358 PMID:25741868 PMID:28893421 |
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NCBI chrNW_004936578:5,774...25,621
Ensembl chrNW_004936578:5,774...25,350
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Cldn19 |
claudin 19 |
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ISO |
ClinVar Annotator: match by term: Nephrocalcinosis |
ClinVar |
PMID:25741868 PMID:28893421 PMID:33025205 PMID:34805638 |
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NCBI chrNW_004936474:24,067,009...24,070,838
Ensembl chrNW_004936474:24,064,730...24,070,865
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Grhpr |
glyoxylate and hydroxypyruvate reductase |
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ISO |
ClinVar Annotator: match by term: Nephrocalcinosis |
ClinVar |
PMID:9536098 PMID:10484776 PMID:11030416 PMID:12185464 PMID:14635115 PMID:15327387 PMID:17576681 PMID:18560364 PMID:24033266 PMID:24116921 PMID:25644115 PMID:25741868 PMID:28492532 PMID:28893421 More...
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NCBI chrNW_004936524:5,208,793...5,219,555
Ensembl chrNW_004936524:5,208,492...5,219,970
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G |
Phex |
phosphate regulating endopeptidase X-linked |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9430241 |
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NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847
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Polg2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
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MouseDO |
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NCBI chrNW_004936541:4,988,469...5,004,110
Ensembl chrNW_004936541:4,988,368...5,003,922
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3017235 |
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NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
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Pth |
parathyroid hormone |
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ISO |
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RGD |
PMID:23344571 |
RGD:7242573 |
NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
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Slc12a1 |
solute carrier family 12 member 1 |
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ISO |
ClinVar Annotator: match by term: Nephrocalcinosis |
ClinVar |
PMID:8640224 PMID:9585600 PMID:17998760 PMID:18391953 PMID:19096086 PMID:28492532 PMID:28893421 More...
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NCBI chrNW_004936471:10,564,530...10,648,124
Ensembl chrNW_004936471:10,564,535...10,646,977
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Slc26a1 |
solute carrier family 26 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20160351 |
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NCBI chrNW_004936477:22,209,445...22,213,592
Ensembl chrNW_004936477:22,208,451...22,213,592
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
ClinVar Annotator: match by term: Nephrocalcinosis |
ClinVar |
PMID:16199547 PMID:16688119 PMID:25741868 PMID:26047794 PMID:28492532 PMID:28893421 PMID:29959532 More...
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NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
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G |
Slc3a1 |
solute carrier family 3 member 1 |
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ISO |
ClinVar Annotator: match by term: Nephrocalcinosis |
ClinVar |
PMID:18947684 PMID:24610330 PMID:25109415 PMID:25741868 PMID:25964309 PMID:28492532 PMID:28646536 PMID:28893421 PMID:33262960 More...
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NCBI chrNW_004936508:7,672,274...7,703,962
Ensembl chrNW_004936508:7,672,223...7,703,961
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G |
Ppfibp1 |
PPFIA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities |
ClinVar OMIM |
PMID:25741868 PMID:35830857 |
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NCBI chrNW_004937395:28,813...79,109
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G |
Samd9 |
sterile alpha motif domain containing 9 |
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ISO |
ClinVar Annotator: match by term: CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA | ClinVar Annotator: match by term: Normophosphatemic familial tumoral calcinosis |
OMIM ClinVar |
PMID:16960814 PMID:18094730 PMID:25741868 PMID:28346228 PMID:28492532 |
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NCBI chrNW_004936803:765,839...782,176
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Fbn1 |
fibrillin 1 |
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ISO |
protein:increased expression:cortical bone, trabecular bone (mouse) |
RGD |
PMID:11159866 |
RGD:7794797 |
NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231
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Mepe |
matrix extracellular phosphoglycoprotein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11414762 |
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NCBI chrNW_004936905:284,849...297,297
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G |
Zbtb20 |
zinc finger and BTB domain containing 20 |
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ISO |
ClinVar Annotator: match by term: Primrose syndrome |
OMIM ClinVar |
PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:28327206 PMID:28492532 PMID:29737001 PMID:30256248 PMID:30637921 PMID:32071410 More...
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NCBI chrNW_004936536:1,776,065...2,546,286
Ensembl chrNW_004936536:1,776,081...1,829,837
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G |
Ocln |
occludin |
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ISO |
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 |
OMIM ClinVar |
PMID:18414213 PMID:19012351 PMID:20727516 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936480:99,516...152,834
Ensembl chrNW_004936480:98,371...152,413
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Usp18 |
ubiquitin specific peptidase 18 |
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ISO |
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2 |
OMIM ClinVar |
PMID:12833411 PMID:25741868 PMID:27325888 PMID:31940699 |
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NCBI chrNW_004936807:1,090,928...1,116,166
Ensembl chrNW_004936807:1,090,882...1,114,770
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G |
Stat2 |
signal transducer and activator of transcription 2 |
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ISO |
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31836668 PMID:32092142 |
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NCBI chrNW_004936646:747,178...763,449
Ensembl chrNW_004936646:748,727...761,287
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G |
LOC101971027 |
neuroendocrine secretory protein 55 |
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ISO |
ClinVar Annotator: match by term: Pseudohypoparathyroidism |
ClinVar |
PMID:219790 PMID:1505964 PMID:2109828 PMID:2122458 PMID:8388883 PMID:8557265 PMID:8702665 PMID:9159128 PMID:9328353 PMID:9506752 PMID:9876352 PMID:10487696 PMID:11073544 PMID:11092390 PMID:11095461 PMID:11450852 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12970262 PMID:15711092 PMID:17164301 PMID:17299070 PMID:17962410 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21274345 PMID:21488135 PMID:21525160 PMID:21713996 PMID:21747923 PMID:23281139 PMID:23533243 PMID:23796510 PMID:23884777 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24651309 PMID:25044890 PMID:25219572 PMID:25326637 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28296742 PMID:28492532 PMID:29059381 PMID:29072892 PMID:29193623 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34008892 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
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NCBI chrNW_004936530:1,353,432...1,407,437
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Pth1r |
parathyroid hormone 1 receptor |
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ISO |
ClinVar Annotator: match by term: Pseudohypoparathyroidism |
ClinVar |
PMID:25741868 PMID:35846276 |
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NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213
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G |
LOC101971027 |
neuroendocrine secretory protein 55 |
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ISO |
ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B |
OMIM ClinVar |
PMID:1505964 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12970262 PMID:15592469 PMID:15711092 PMID:16199547 PMID:18553568 PMID:18796523 PMID:20015054 PMID:20427508 PMID:21525160 PMID:23281139 PMID:23533243 PMID:23796510 PMID:23884777 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:25044890 PMID:25219572 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
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NCBI chrNW_004936530:1,353,432...1,407,437
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G |
Stx16 |
syntaxin 16 |
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ISO |
ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B |
OMIM ClinVar |
PMID:14561710 PMID:15579741 PMID:15800843 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936530:1,231,033...1,247,961
Ensembl chrNW_004936530:1,231,252...1,247,987 Ensembl chrNW_004936530:1,231,252...1,247,987
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G |
LOC101971027 |
neuroendocrine secretory protein 55 |
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ISO |
ClinVar Annotator: match by term: PHP IC | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C |
OMIM ClinVar |
PMID:1505964 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 PMID:11784876 PMID:11788646 PMID:12024004 PMID:12621129 PMID:12970262 PMID:15711092 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21488135 PMID:21525160 PMID:23281139 PMID:23533243 PMID:23796510 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24651309 PMID:24728327 PMID:25044890 PMID:25219572 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
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NCBI chrNW_004936530:1,353,432...1,407,437
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LOC101971027 |
neuroendocrine secretory protein 55 |
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ISO |
ClinVar Annotator: match by term: Albright hereditary osteodystrophy without multiple hormone resistance | ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism |
OMIM ClinVar |
PMID:219790 PMID:1505964 PMID:2122458 PMID:7853365 PMID:8702665 PMID:9506752 PMID:9727013 PMID:9876352 PMID:10487696 PMID:11092390 PMID:11095461 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12624854 PMID:15711092 PMID:16199547 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21274345 PMID:21525160 PMID:23281139 PMID:23533243 PMID:23796510 PMID:23884777 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:25044890 PMID:25219572 PMID:25594858 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28296742 PMID:28492532 PMID:28708303 PMID:29059381 PMID:29072892 PMID:29095814 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34008892 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
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NCBI chrNW_004936530:1,353,432...1,407,437
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Slc34a2 |
solute carrier family 34 member 2 |
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ISO |
ClinVar Annotator: match by term: PULMONARY ALVEOLAR MICROLITHIASIS |
OMIM ClinVar |
PMID:11287838 PMID:16960801 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936477:3,954,377...3,975,259
Ensembl chrNW_004936477:3,956,061...3,966,392
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Fam20c |
FAM20C golgi associated secretory pathway kinase |
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ISO |
ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia |
OMIM ClinVar |
PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 PMID:20825432 PMID:22582013 PMID:24033266 PMID:25026495 PMID:25741868 PMID:27862258 PMID:28492532 PMID:32093234 PMID:32299476 PMID:32337609 More...
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NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098
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Farsb |
phenylalanyl-tRNA synthetase subunit beta |
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ISO |
ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications |
ClinVar |
PMID:19161147 PMID:25741868 PMID:29573043 PMID:29979980 PMID:30014610 |
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NCBI chrNW_004936569:4,524,525...4,604,539
Ensembl chrNW_004936569:4,523,046...4,604,560
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Farsb |
phenylalanyl-tRNA synthetase subunit beta |
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ISO |
ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29979980 |
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NCBI chrNW_004936569:4,524,525...4,604,539
Ensembl chrNW_004936569:4,523,046...4,604,560
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Farsa |
phenylalanyl-tRNA synthetase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2 |
OMIM ClinVar |
PMID:25741868 PMID:31355908 |
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NCBI chrNW_004936659:1,982,343...1,990,277
Ensembl chrNW_004936659:1,981,723...1,990,322
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Cldn16 |
claudin 16 |
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ISO |
ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement |
ClinVar |
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NCBI chrNW_004936578:5,774...25,621
Ensembl chrNW_004936578:5,774...25,350
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Cldn19 |
claudin 19 |
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ISO |
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement |
OMIM ClinVar |
PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 PMID:25410674 PMID:25741868 PMID:27530400 PMID:28492532 PMID:28893421 PMID:33025205 PMID:33532864 PMID:34805638 More...
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NCBI chrNW_004936474:24,067,009...24,070,838
Ensembl chrNW_004936474:24,064,730...24,070,865
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Egf |
epidermal growth factor |
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ISO |
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936563:1,058,803...1,181,393
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Pth |
parathyroid hormone |
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ISO |
associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) |
RGD |
PMID:18480316 |
RGD:7242687 |
NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
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Casr |
calcium sensing receptor |
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ISO |
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RGD |
PMID:12671052 |
RGD:734698 |
NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
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Fam20c |
FAM20C golgi associated secretory pathway kinase |
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ISO |
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 |
MouseDO |
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NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098
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LOC101978323 |
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial |
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ISO |
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 CTD Direct Evidence: marker/mechanism vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S |
RGD MouseDO CTD |
PMID:9486994 PMID:11416220 PMID:16494812 |
RGD:1600874 RGD:734871 |
NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
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Pth |
parathyroid hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10375030 |
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NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
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Pth1r |
parathyroid hormone 1 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10375030 |
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NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213
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Vdr |
vitamin D receptor |
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ISO |
CTD Direct Evidence: marker/mechanism OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human) |
CTD MouseDO RGD |
PMID:1338926 PMID:2849209 PMID:17451081 PMID:22466564 |
RGD:1624354 |
NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
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Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: SHORT syndrome |
OMIM ClinVar |
PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:9536098 PMID:10768093 PMID:11135494 PMID:12514365 PMID:16199547 PMID:17576681 PMID:18384141 PMID:18414213 PMID:22351933 PMID:23810378 PMID:23810379 PMID:23810382 PMID:23980586 PMID:24033266 PMID:24088041 PMID:24459181 PMID:24728327 PMID:24886349 PMID:25133428 PMID:25157968 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26497935 PMID:26529633 PMID:26633545 PMID:26974159 PMID:27076228 PMID:27116393 PMID:27221134 PMID:27693481 PMID:27766312 PMID:28104464 PMID:28143957 PMID:28302518 PMID:28492532 PMID:28632845 PMID:29051493 PMID:29178053 PMID:29636477 PMID:29740032 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 More...
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NCBI chrNW_004936480:1,188,408...1,273,210
Ensembl chrNW_004936480:1,188,183...1,273,537
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Ifih1 |
interferon induced with helicase C domain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903
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Ifih1 |
interferon induced with helicase C domain 1 |
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ISO |
ClinVar Annotator: match by term: Singleton-Merten syndrome 1 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:27477329 PMID:27577878 PMID:28319323 PMID:28475458 PMID:28492532 PMID:28605144 PMID:28606988 PMID:28716935 PMID:29018476 PMID:29270977 PMID:30219631 PMID:30564185 PMID:30707351 PMID:31069529 PMID:31178897 PMID:31898846 PMID:33440462 PMID:34185153 PMID:34539730 PMID:35754802 More...
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NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903
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Rigi |
RNA sensor RIG-I |
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ISO |
ClinVar Annotator: match by term: Singleton-Merten syndrome 2 |
OMIM ClinVar |
PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 |
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NCBI chrNW_004936524:1,141,840...1,200,638
Ensembl chrNW_004936524:1,140,971...1,200,638
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Akap5 |
A-kinase anchoring protein 5 |
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ISO |
mRNA:increased expression:dentate gyrus (rat) |
RGD |
PMID:12542670 |
RGD:2313247 |
NCBI chrNW_004936495:8,173,521...8,179,249
Ensembl chrNW_004936495:8,176,249...8,177,556
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Cnnm2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23027747 |
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NCBI chrNW_004936600:2,898,321...3,037,414
Ensembl chrNW_004936600:2,904,410...3,036,132
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Spink1 |
serine peptidase inhibitor Kazal type 1 |
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ISO |
ClinVar Annotator: match by term: Tropical calcific pancreatitis |
ClinVar OMIM |
PMID:10691414 PMID:10835640 PMID:11265669 PMID:11950815 PMID:12011155 PMID:12187509 PMID:12483248 PMID:12629264 PMID:12743777 PMID:12853682 PMID:15980664 PMID:16849362 PMID:16885867 PMID:17003641 PMID:17204147 PMID:17466744 PMID:17525091 PMID:17568390 PMID:18286680 PMID:18414673 PMID:18617776 PMID:18978175 PMID:19299380 PMID:19453252 PMID:19565042 PMID:19888199 PMID:21303407 PMID:21375584 PMID:21610753 PMID:22427236 PMID:22749696 PMID:22995991 PMID:23017645 PMID:23741238 PMID:23951356 PMID:24033266 PMID:24522117 PMID:24844923 PMID:24909264 PMID:25010710 PMID:25206283 PMID:25741868 PMID:25792561 PMID:25927356 PMID:26632706 PMID:26719302 PMID:27535533 PMID:27578509 PMID:28492532 PMID:28546062 PMID:28556356 PMID:28609377 PMID:28687971 PMID:28984793 PMID:29521951 PMID:31401021 PMID:34828289 More...
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NCBI chrNW_004936504:6,975,044...6,981,304
Ensembl chrNW_004936504:6,975,044...6,981,304
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Ager |
advanced glycosylation end-product specific receptor |
disease_progression |
ISO |
associated with Renal Insufficiency, Chronic; protein:decreased expression:serum (human) associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (mouse) |
RGD |
PMID:21099228 PMID:21643645 PMID:22305260 |
RGD:7243940 RGD:7243959 RGD:7245562 |
NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147
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Cd40 |
CD40 molecule |
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ISO |
associated with Coronary Artery Disease |
RGD |
PMID:16494885 |
RGD:7248436 |
NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280
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Cd40lg |
CD40 ligand |
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ISO |
associated with Coronary Artery Disease |
RGD |
PMID:16494885 |
RGD:7248436 |
NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
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Ctnnb1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23223575 |
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NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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Gpx3 |
glutathione peroxidase 3 |
treatment |
ISO |
associated with obesity |
RGD |
PMID:24370590 |
RGD:401827910 |
NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498
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Kl |
klotho |
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ISO |
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RGD |
PMID:21115613 |
RGD:10403077 |
NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
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Mgp |
matrix Gla protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21705322 |
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NCBI chrNW_004936587:2,601,419...2,605,848
Ensembl chrNW_004936587:2,601,312...2,605,870
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Mthfr |
methylenetetrahydrofolate reductase |
severity |
ISO |
DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:21394321 |
RGD:6893475 |
NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
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Pla2g7 |
phospholipase A2 group VII |
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ISO |
DNA:SNPs:cds, intron:multiple |
RGD |
PMID:22340269 |
RGD:6482770 |
NCBI chrNW_004936476:13,609,847...13,646,174
Ensembl chrNW_004936476:13,609,374...13,649,998
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Pth |
parathyroid hormone |
disease_progression |
ISO |
protein:increased expression:serum (rat) associated with Kidney Failure, Chronic |
RGD |
PMID:22634235 PMID:23486515 |
RGD:7242416 RGD:7242900 |
NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
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LOC101978323 |
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Vitamin D-dependent rickets |
ClinVar |
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NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
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Vdr |
vitamin D receptor |
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ISO |
ClinVar Annotator: match by term: Vitamin D-dependent rickets |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
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LOC101972957 |
vitamin D 25-hydroxylase |
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ISO |
ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 |
ClinVar |
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:24033266 PMID:25741868 PMID:25942481 PMID:28492532 PMID:28548312 More...
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NCBI chrNW_004936528:3,881,630...3,897,613
Ensembl chrNW_004936528:3,881,087...3,900,302
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LOC101978323 |
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial |
treatment |
ISO |
ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A |
OMIM ClinVar RGD |
PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 PMID:11737215 PMID:12050193 PMID:17488797 PMID:18394115 PMID:20926527 PMID:21107545 PMID:21700898 PMID:22190362 PMID:22443290 PMID:22588163 PMID:23423976 PMID:23444327 PMID:23483640 PMID:24197768 PMID:25284246 PMID:25741868 PMID:27287609 PMID:28492532 PMID:30282619 PMID:31261480 PMID:32231239 PMID:32932410 PMID:35279323 PMID:35738466 PMID:36321535 PMID:36561972 More...
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RGD:32716373 |
NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
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Milr1 |
mast cell immunoglobulin like receptor 1 |
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ISO |
ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 |
ClinVar |
PMID:25741868 PMID:27592148 PMID:28492532 PMID:30157269 |
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NCBI chrNW_004936541:4,959,838...4,972,543
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Polg2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 |
ClinVar |
PMID:25741868 PMID:27592148 PMID:28492532 PMID:30157269 |
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NCBI chrNW_004936541:4,988,469...5,004,110
Ensembl chrNW_004936541:4,988,368...5,003,922
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LOC101972957 |
vitamin D 25-hydroxylase |
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ISO |
ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B |
OMIM ClinVar |
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 PMID:24033266 PMID:25741868 PMID:25942481 PMID:27716192 PMID:28492532 PMID:28548312 PMID:32115644 PMID:33715104 More...
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NCBI chrNW_004936528:3,881,630...3,897,613
Ensembl chrNW_004936528:3,881,087...3,900,302
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Vdr |
vitamin D receptor |
treatment |
ISO |
ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A |
OMIM ClinVar RGD |
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:19682379 PMID:20200114 PMID:21073129 PMID:21168462 PMID:21424181 PMID:21931507 PMID:22145479 PMID:23180655 PMID:24033266 PMID:24246681 PMID:24693968 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:32231239 PMID:35738466 More...
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RGD:13432060 RGD:32716373 |
NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
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Bglap |
bone gamma-carboxyglutamate protein |
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ISO |
mRNA:increased expression:long bone |
RGD |
PMID:22573557 |
RGD:7207229 |
NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155
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Fam20c |
FAM20C golgi associated secretory pathway kinase |
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ISO |
mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) |
RGD |
PMID:24710520 |
RGD:11560488 |
NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098
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G |
Phex |
phosphate regulating endopeptidase X-linked |
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ISO |
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked |
OMIM ClinVar |
PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 PMID:9106524 PMID:9199930 PMID:9536098 PMID:9768646 PMID:9768674 PMID:10439971 PMID:10737991 PMID:11004247 PMID:11468271 PMID:11502821 PMID:11502829 PMID:12414858 PMID:12727977 PMID:14564066 PMID:14564077 PMID:16055933 PMID:16199547 PMID:16303832 PMID:16636593 PMID:17576681 PMID:18162710 PMID:18252791 PMID:18625346 PMID:19219621 PMID:19513579 PMID:21050253 PMID:21902834 PMID:21994957 PMID:22101457 PMID:22261628 PMID:22527485 PMID:22577109 PMID:22695891 PMID:23079138 PMID:23466123 PMID:24033266 PMID:24102521 PMID:24684036 PMID:24756041 PMID:24836714 PMID:24857004 PMID:24926462 PMID:25042154 PMID:25525159 PMID:25741868 PMID:25741895 PMID:25839938 PMID:26040324 PMID:26051471 PMID:26377240 PMID:26402641 PMID:26467025 PMID:26543054 PMID:26894575 PMID:27840894 PMID:28383812 PMID:28492532 PMID:28506344 PMID:28981921 PMID:29393334 PMID:29460029 PMID:29505567 PMID:29858904 PMID:29901142 PMID:30298485 PMID:30298486 PMID:30607568 PMID:30682568 PMID:30920082 PMID:31102713 PMID:31910300 PMID:32257293 PMID:32329911 PMID:32772199 PMID:33639975 PMID:33666701 PMID:34006472 PMID:34141703 PMID:34434907 PMID:34633109 PMID:34806794 PMID:35738466 PMID:35896147 PMID:36530187 PMID:36672821 More...
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NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive |
OMIM ClinVar |
PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:11136179 PMID:15719255 PMID:15895257 PMID:16822791 PMID:18038239 PMID:19076289 PMID:19546586 PMID:19546591 PMID:22876375 PMID:24081861 PMID:25741868 PMID:25907713 PMID:26822237 PMID:27117801 PMID:27889724 PMID:28492532 PMID:28580211 PMID:31672324 PMID:32683654 More...
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NCBI chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814
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