|
G |
Abca7 |
ATP binding cassette subfamily A member 7 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
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G |
Adamtsl5 |
ADAMTS-like 5 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,362,623...9,371,248
Ensembl chr 7:9,363,237...9,370,285
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|
G |
Apc2 |
APC regulator of WNT signaling pathway 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310
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|
G |
Arhgap45 |
Rho GTPase activating protein 45 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268
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|
G |
Arid3a |
AT-rich interaction domain 3A |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,755,291...9,781,260
Ensembl chr 7:9,755,294...9,780,599
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|
G |
Atp5f1d |
ATP synthase F1 subunit delta |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
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|
G |
Cbarp |
CACN subunit beta associated regulatory protein |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,566,637...9,575,204
Ensembl chr 7:9,566,364...9,575,204
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|
G |
Cfd |
complement factor D |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
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|
G |
Cirbp |
cold inducible RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,533,857...9,538,899
Ensembl chr 7:9,424,178...9,538,818
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|
G |
Cnn2 |
calponin 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,712,505...9,719,711
Ensembl chr 7:9,712,516...9,719,656
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|
G |
Dazap1 |
DAZ associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,423,673...9,448,116
Ensembl chr 7:9,424,178...9,538,818
|
|
G |
Efna2 |
ephrin A2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,515,635...9,528,071
Ensembl chr 7:9,516,429...9,527,061
|
|
G |
Elane |
elastase, neutrophil expressed |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
|
|
G |
Fam174c |
family with sequence similarity 174 member C |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,531,995...9,533,705
|
|
G |
Fgf22 |
fibroblast growth factor 22 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,947,632...9,956,918
Ensembl chr 7:9,948,071...9,950,486
|
|
G |
Fstl3 |
follistatin like 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,924,670...9,929,195
Ensembl chr 7:9,923,576...9,939,639
|
|
G |
Gamt |
guanidinoacetate N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 PMID:11978605 PMID:12468279 PMID:12557293 PMID:15108290 PMID:15651030 PMID:16054853 PMID:16169544 PMID:16199547 PMID:16855203 PMID:17101918 PMID:17171576 PMID:17336114 PMID:17576681 PMID:19027335 PMID:19288536 PMID:19388150 PMID:19892372 PMID:20301745 PMID:21140503 PMID:22019491 PMID:23031365 PMID:23234264 PMID:23583224 PMID:23660394 PMID:24071436 PMID:24268530 PMID:24276113 PMID:24415674 PMID:24440240 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:27233226 PMID:27650626 PMID:27848944 PMID:28055022 PMID:28438604 PMID:28492532 PMID:28600779 PMID:29506905 PMID:29655203 PMID:31130284 PMID:31222513 PMID:32214227 PMID:34389248 More...
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|
NCBI chr 7:9,448,590...9,451,778
Ensembl chr 7:9,448,628...9,451,778
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|
G |
Gatm |
glycine amidinotransferase |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:25741868 PMID:29654216 |
|
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
|
|
G |
Gpx4 |
glutathione peroxidase 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
|
|
G |
Grin3b |
glutamate ionotropic receptor NMDA type subunit 3B |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,730,861...9,737,183
Ensembl chr 7:9,730,862...9,737,183
|
|
G |
Hcn2 |
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
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|
G |
Kiss1r |
KISS1 receptor |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
|
|
G |
Mbd3 |
methyl-CpG binding domain protein 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,312,961...9,320,166
Ensembl chr 7:9,313,098...9,320,165
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|
G |
Med16 |
mediator complex subunit 16 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,798,641...9,811,172
Ensembl chr 7:9,798,668...9,811,172
|
|
G |
Mex3d |
mex-3 RNA binding family member D |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,325,575...9,332,705
Ensembl chr 7:9,325,488...9,332,096
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|
G |
Midn |
midnolin |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,548,100...9,559,605
Ensembl chr 7:9,549,650...9,559,752
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|
G |
Misp |
mitotic spindle positioning |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,870,390...9,886,541
Ensembl chr 7:9,870,444...9,886,541
|
|
G |
Ndufs7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:11978605 PMID:12468279 PMID:15108290 PMID:20301745 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
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|
G |
Palm |
paralemmin |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,886,634...9,912,389
Ensembl chr 7:9,886,643...9,912,555
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|
G |
Pcsk4 |
proprotein convertase subtilisin/kexin type 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,381,366...9,389,589
Ensembl chr 7:9,381,361...9,389,585
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|
G |
Plk5 |
polo-like kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,346,777...9,367,923
Ensembl chr 7:9,346,777...9,355,196
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|
G |
Plppr3 |
phospholipid phosphatase related 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,831,162...9,842,434
Ensembl chr 7:9,831,162...9,845,296
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|
G |
Polr2e |
RNA polymerase II, I and III subunit E |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643
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|
G |
Polrmt |
RNA polymerase mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791
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|
G |
Prss57 |
serine protease 57 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,915,667...9,922,996
Ensembl chr 7:9,917,484...9,922,922
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G |
Prtn3 |
proteinase 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
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|
G |
Ptbp1 |
polypyrimidine tract binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,842,574...9,852,332
Ensembl chr 7:9,842,574...9,852,397
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|
G |
Pwwp3a |
PWWP domain containing 3A, DNA repair factor |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,465,180...9,482,053
Ensembl chr 7:9,465,195...9,481,966
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|
G |
R3hdm4 |
R3H domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,790,401...9,797,512
Ensembl chr 7:9,790,322...9,797,512
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|
G |
Reep6 |
receptor accessory protein 6 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,373,927...9,380,845
Ensembl chr 7:9,373,927...9,380,597
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|
G |
RGD1359127 |
similar to RIKEN cDNA 2310011J03 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,390,255...9,392,383
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|
G |
Rnf126 |
ring finger protein 126 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,939,359...9,946,963
Ensembl chr 7:9,938,229...9,946,738
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G |
Rps15 |
ribosomal protein S15 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450
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G |
Sbno2 |
strawberry notch homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,605,572...9,649,529
Ensembl chr 7:9,605,627...9,649,527
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G |
Stk11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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G |
Tcf3 |
transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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G |
Tmem259 |
transmembrane protein 259 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,724,196...9,730,932
Ensembl chr 7:9,722,485...9,730,932
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|
G |
Uqcr11 |
ubiquinol-cytochrome c reductase, complex III subunit XI |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:15108290 PMID:28492532 |
|
NCBI chr 7:9,305,042...9,309,753
Ensembl chr 7:9,305,058...9,309,750
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G |
Wdr18 |
WD repeat domain 18 |
|
ISO |
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:9,740,245...9,748,041
Ensembl chr 7:9,739,604...9,748,070
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|
G |
Afg2b |
AFG2 AAA ATPase homolog B |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757
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G |
B2m |
beta-2 microglobulin |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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G |
Duox1 |
dual oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563
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G |
Duox2 |
dual oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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G |
Duoxa1 |
dual oxidase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499
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G |
Duoxa2 |
dual oxidase maturation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,245,476...109,248,844
Ensembl chr 3:109,245,476...109,248,968
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G |
Gatm |
glycine amidinotransferase |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
OMIM ClinVar |
PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:17576681 PMID:20301745 PMID:20625172 PMID:20682460 PMID:22386973 PMID:23660394 PMID:23770102 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26467025 PMID:26490222 PMID:27233232 PMID:27577545 PMID:28492532 PMID:29654216 More...
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|
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
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G |
MGC105649 |
hypothetical LOC302884 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,719,952...109,723,507
Ensembl chr 3:109,719,897...109,724,006 Ensembl chr 3:109,719,897...109,724,006
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G |
Patl2 |
PAT1 homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
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G |
Shf |
Src homology 2 domain containing F |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328
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G |
Slc28a2 |
solute carrier family 28 member 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702
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G |
Slc30a4 |
solute carrier family 30 member 4 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306
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G |
Sord |
sorbitol dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
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G |
Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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|
G |
Terb2 |
telomere repeat binding bouquet formation protein 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683
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|
G |
Trim69 |
tripartite motif-containing 69 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
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|
|
G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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G |
Arhgap4 |
Rho GTPase activating protein 4 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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G |
Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,633,501...151,636,000
Ensembl chr X:151,633,522...151,635,989
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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G |
Bgn |
biglycan |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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G |
Brcc3 |
BRCA1/BRCA2-containing complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
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G |
Ccnq |
cyclin Q |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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G |
Clic2 |
chloride intracellular channel 2 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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G |
Cmc4 |
C-X9-C motif containing 4 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
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G |
Ctag2 |
cancer/testis antigen 2 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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G |
Dusp9 |
dual specificity phosphatase 9 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
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G |
Emd |
emerin |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
F8a1 |
coagulation factor VIII-associated 1 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
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G |
Fam50a |
family with sequence similarity 50, member A |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Fundc2 |
FUN14 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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G |
H2ab3 |
H2A.B variant histone 3 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:82,362,633...82,362,983
Ensembl chr X:82,362,633...82,362,983
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G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
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G |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Lage3 |
L antigen family, member 3 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Mtcp1 |
mature T-cell proliferation 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:126,189...130,123
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,905,096...151,925,322
Ensembl chr X:151,905,096...151,925,388
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G |
Pdzd4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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G |
Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
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G |
Pnma3 |
PNMA family member 3 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
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G |
Pnma5 |
PNMA family member 5 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
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G |
Pnma6e |
PNMA family member 6E |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
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G |
Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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G |
Rpl10 |
ribosomal protein L10 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,054,547...152,056,757
Ensembl chr X:152,054,452...152,056,761
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G |
Slc10a3 |
solute carrier family 10, member 3 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9384614 PMID:9536098 PMID:10480214 PMID:11326334 PMID:11748843 PMID:11898126 PMID:11968085 PMID:12210795 PMID:12536364 PMID:12544242 PMID:12889669 PMID:15154114 PMID:15351775 PMID:15689435 PMID:15690373 PMID:15857409 PMID:16080119 PMID:16086185 PMID:16199547 PMID:16427346 PMID:16601897 PMID:16684786 PMID:16738945 PMID:17088400 PMID:17101918 PMID:17172942 PMID:17465020 PMID:17553121 PMID:17576681 PMID:18047645 PMID:18414213 PMID:19188083 PMID:19396829 PMID:19763152 PMID:19846429 PMID:20307669 PMID:20717164 PMID:20730588 PMID:21140503 PMID:21267006 PMID:21556832 PMID:21836662 PMID:21910234 PMID:22281021 PMID:22382802 PMID:22406018 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23408511 PMID:23409742 PMID:23644449 PMID:23660394 PMID:24190795 PMID:24365856 PMID:24962355 PMID:25326635 PMID:25590979 PMID:25741868 PMID:25803912 PMID:25861866 PMID:26467025 PMID:26471271 PMID:26930212 PMID:27408820 PMID:28065824 PMID:28492532 PMID:29334594 PMID:29429461 PMID:30885608 PMID:32207963 PMID:32434645 PMID:32860008 PMID:33624935 PMID:34395220 More...
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NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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G |
Ssr4 |
signal sequence receptor subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
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G |
Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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G |
Tktl1 |
transketolase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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G |
Trex2 |
three prime repair exonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
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G |
Ubl4a |
ubiquitin-like 4A |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
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G |
Vbp1 |
VHL binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Zfp185 |
zinc finger protein 185 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810
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G |
Zfp92 |
ZFP92 zinc finger protein |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177
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G |
Gamt |
guanidinoacetate N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 PMID:11978605 PMID:12468279 PMID:12557293 PMID:15108290 PMID:15651030 PMID:16054853 PMID:16169544 PMID:16199547 PMID:16855203 PMID:17101918 PMID:17171576 PMID:17336114 PMID:17576681 PMID:19027335 PMID:19288536 PMID:19388150 PMID:19892372 PMID:20301745 PMID:21140503 PMID:22019491 PMID:23031365 PMID:23234264 PMID:23583224 PMID:23660394 PMID:23846910 PMID:24071436 PMID:24268530 PMID:24276113 PMID:24415674 PMID:24440240 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:27233226 PMID:27650626 PMID:28055022 PMID:28438604 PMID:28492532 PMID:29506905 PMID:29655203 PMID:31130284 PMID:32214227 PMID:33996490 PMID:34389248 More...
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NCBI chr 7:9,448,590...9,451,778
Ensembl chr 7:9,448,628...9,451,778
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G |
Ndufs7 |
NADH:ubiquinone oxidoreductase core subunit S7 |
|
ISO |
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 |
ClinVar |
PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 |
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NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
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