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G |
ABCD1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,275,165...143,295,283
Ensembl chr X:153,162,412...153,182,424
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G |
ARHGAP4 |
Rho GTPase activating protein 4 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,462,157...143,481,496
Ensembl chr X:153,349,050...153,367,709
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G |
ATP2B3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,068,171...143,133,479
Ensembl chr X:152,955,109...153,019,445
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G |
ATP6AP1 |
ATPase H+ transporting accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,870,421...143,878,288
Ensembl chr X:153,740,751...153,748,621
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G |
AVPR2 |
arginine vasopressin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,458,693...143,461,945
Ensembl chr X:153,346,466...153,348,840
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G |
BAG6 |
BAG cochaperone 6 |
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ISO |
ClinVar Annotator: match by term: Periventricular nodular heterotopia |
ClinVar |
PMID:31474318 |
|
NCBI chr 6:31,300,126...31,313,829
Ensembl chr 6:32,190,037...32,204,321
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G |
BCAP31 |
B cell receptor associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,265,920...143,274,956
Ensembl chr X:153,137,992...153,161,628
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G |
BGN |
biglycan |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,045,298...143,059,892
Ensembl chr X:152,931,608...152,946,292
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G |
BRCC3 |
BRCA1/BRCA2-containing complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,550,320...144,592,795
Ensembl chr X:154,389,283...154,428,669
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G |
CCNQ |
cyclin Q |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,138,574...143,149,824
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G |
CLIC2 |
chloride intracellular channel 2 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,742,839...144,851,524
Ensembl chr X:154,581,649...154,641,515
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G |
CMC4 |
C-X9-C motif containing 4 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,540,603...144,550,152
Ensembl chr X:154,379,485...154,388,932
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G |
CPA6 |
carboxypeptidase A6 |
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ISO |
ClinVar Annotator: match by term: Periventricular heterotopia |
ClinVar |
PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 PMID:28492532 PMID:28761347 PMID:29358611 PMID:32581362 More...
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NCBI chr 8:63,962,991...64,285,840
Ensembl chr 8:65,624,306...65,946,848
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G |
DKC1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,243,493...144,257,419
Ensembl chr X:154,084,412...154,098,475
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G |
DNASE1L1 |
deoxyribonuclease 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,842,920...143,851,795
Ensembl chr X:153,712,054...153,725,868
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G |
DUSP9 |
dual specificity phosphatase 9 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,192,599...143,201,647
Ensembl chr X:153,084,555...153,088,208
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G |
EMD |
emerin |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:18854860 PMID:19396829 PMID:19846429 PMID:20730588 PMID:20871226 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,792,178...143,794,530
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G |
ERMARD |
ER membrane associated RNA degradation |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:167,823,630...167,854,200
Ensembl chr 6:172,861,675...172,891,822
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G |
F8 |
coagulation factor VIII |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,316,192...144,505,773
Ensembl chr X:154,156,873...154,341,317
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G |
F8A1 |
coagulation factor VIII associated 1 |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,366,123...144,367,842
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G |
F8A3 |
coagulation factor VIII associated 3 |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,925,422...144,927,166
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G |
FAM3A |
FAM3 metabolism regulating signaling molecule A |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,947,867...143,957,966
Ensembl chr X:153,817,983...153,828,152
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G |
FAM50A |
family with sequence similarity 50 member A |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,885,931...143,892,435
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G |
FLNA |
filamin A |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 |
OMIM ClinVar |
PMID:3265608 PMID:3658675 PMID:6019437 PMID:8290091 PMID:9071288 PMID:9384614 PMID:9536098 PMID:9800904 PMID:9883725 PMID:10480214 PMID:10982489 PMID:10982965 PMID:11532987 PMID:11704759 PMID:11748843 PMID:11914408 PMID:11968085 PMID:11992261 PMID:12410386 PMID:12612583 PMID:14988809 PMID:15194946 PMID:15523633 PMID:15668422 PMID:15689435 PMID:15864382 PMID:15917206 PMID:15994863 PMID:16080119 PMID:16199547 PMID:16299064 PMID:16303888 PMID:16417552 PMID:16427346 PMID:16538226 PMID:16596676 PMID:16601897 PMID:16684786 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17152064 PMID:17264970 PMID:17546640 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:18854860 PMID:19006219 PMID:19377476 PMID:19396829 PMID:19773341 PMID:19846429 PMID:20014127 PMID:20186808 PMID:20301567 PMID:20598277 PMID:20730588 PMID:20844545 PMID:20871226 PMID:20979190 PMID:21031081 PMID:21520333 PMID:21620354 PMID:21821884 PMID:21836662 PMID:21960593 PMID:22281021 PMID:22366253 PMID:22382802 PMID:22465605 PMID:22522697 PMID:23032111 PMID:23409742 PMID:23660394 PMID:23873601 PMID:24088041 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25167861 PMID:25326637 PMID:25614868 PMID:25649377 PMID:25686753 PMID:25741868 PMID:25817843 PMID:26059211 PMID:26061098 PMID:26188975 PMID:26404489 PMID:26467025 PMID:26471271 PMID:26633545 PMID:26686323 PMID:26804200 PMID:27193221 PMID:27457812 PMID:27724990 PMID:28133863 PMID:28411558 PMID:28425981 PMID:28428218 PMID:28454995 PMID:28492532 PMID:28660794 PMID:28798025 PMID:28898549 PMID:28953922 PMID:28983057 PMID:29024177 PMID:29168297 PMID:29334594 PMID:29650765 PMID:29706646 PMID:29720203 PMID:29738522 PMID:30089473 PMID:30115950 PMID:30143558 PMID:30224736 PMID:30293987 PMID:30561107 PMID:30675029 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31625567 PMID:31919883 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:33994118 PMID:34858435 PMID:35000503 PMID:36110220 More...
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NCBI chr X:143,799,088...143,825,282
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G |
FUNDC2 |
FUN14 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,505,703...144,534,871
Ensembl chr X:154,345,251...154,374,743
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G |
G6PD |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
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G |
GAB3 |
GRB2 associated binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,150,062...144,232,216
Ensembl chr X:153,993,736...154,038,529
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G |
GDI1 |
GDP dissociation inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,878,690...143,885,251
Ensembl chr X:153,749,661...153,755,877
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G |
HAUS7 |
HAUS augmin like complex subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:142,998,240...143,032,602
Ensembl chr X:152,881,714...152,907,620
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G |
HCFC1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,502,159...143,526,418
Ensembl chr X:153,389,859...153,412,999
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G |
IDH3G |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,336,460...143,345,274
Ensembl chr X:153,222,309...153,231,135
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G |
IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092
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IRAK1 |
interleukin 1 receptor associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,560,802...143,570,185
Ensembl chr X:153,446,827...153,460,602
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G |
L1CAM |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,412,303...143,437,090
Ensembl chr X:153,298,690...153,324,228
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G |
LAGE3 |
L antigen family member 3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,919,519...143,921,001
Ensembl chr X:153,790,672...153,792,549
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G |
LOC100985575 |
40-kDa huntingtin-associated protein |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,851,466...144,853,185
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G |
LOC100992822 |
histone H2A-Bbd type 2/3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,364,612...144,365,333
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G |
LOC112438438 |
paraneoplastic antigen Ma6E |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:142,947,214...142,949,820
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G |
LOC117977735 |
histone H2A-Bbd type 2/3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,849,954...144,850,606
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G |
MAGEA1 |
MAGE family member A1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:142,727,982...142,732,563
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G |
MAP1B |
microtubule associated protein 1B |
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ISO |
ClinVar Annotator: match by term: Periventricular nodular heterotopia |
ClinVar |
PMID:25741868 PMID:29738522 PMID:30150678 |
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NCBI chr 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393
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G |
MECP2 |
methyl-CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854
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G |
MPP1 |
MAGUK p55 scaffold protein 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,258,416...144,285,658
Ensembl chr X:154,099,463...154,126,575
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G |
MTCP1 |
mature T cell proliferation 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,542,898...144,550,059
Ensembl chr X:154,382,737...154,385,472
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G |
NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,484,008...143,489,904
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G |
NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27694961 |
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NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423
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G |
NSDHL |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:142,405,340...142,443,723
Ensembl chr X:152,324,553...152,362,931
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G |
PDZD4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,352,944...143,381,428
Ensembl chr X:153,240,182...153,267,874
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G |
PLXNA3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,900,029...143,915,391
Ensembl chr X:153,772,700...153,786,167
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G |
PLXNB3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,314,794...143,330,066
Ensembl chr X:153,200,971...153,215,909
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G |
PNCK |
pregnancy up-regulated nonubiquitous CaM kinase |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,220,029...143,224,659
Ensembl chr X:153,106,491...153,123,897
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G |
PNMA3 |
PNMA family member 3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:142,631,788...142,635,768
Ensembl chr X:152,551,452...152,552,940
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G |
PNMA5 |
PNMA family member 5 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:142,564,200...142,566,785
Ensembl chr X:152,483,930...152,485,276
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G |
PNMA6A |
PNMA family member 6A |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:142,645,639...142,649,841
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G |
RAB39B |
RAB39B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,728,535...144,734,893
Ensembl chr X:154,567,361...154,573,715
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G |
RENBP |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,490,103...143,499,487
Ensembl chr X:153,376,847...153,386,214
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G |
RPL10 |
ribosomal protein L10 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,839,739...143,844,026
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G |
SLC10A3 |
solute carrier family 10 member 3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,929,086...143,932,406
Ensembl chr X:153,800,354...153,803,653
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G |
SLC6A8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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 |
SMIM9 |
small integral membrane protein 9 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,303,611...144,311,226
Ensembl chr X:154,144,752...154,151,903
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G |
SRPK3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,331,213...143,336,426
Ensembl chr X:153,216,794...153,222,273
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G |
SSR4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,344,286...143,349,272
Ensembl chr X:153,230,137...153,235,124
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G |
TAFAZZIN |
tafazzin, phospholipid-lysophospholipid transacylase |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,853,054...143,863,491
Ensembl chr X:153,725,294...153,734,046
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G |
TEX28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,711,495...143,736,128
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G |
TKTL1 |
transketolase like 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,736,589...143,772,277
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G |
TMEM187 |
transmembrane protein 187 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,527,152...143,533,708
Ensembl chr X:153,419,802...153,420,587
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G |
TMLHE |
trimethyllysine hydroxylase, epsilon |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,956,906...145,081,204
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G |
TREX2 |
three prime repair exonuclease 2 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:142,995,051...142,998,178
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UBL4A |
ubiquitin like 4A |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:143,925,494...143,928,444
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G |
VBP1 |
VHL binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:144,685,548...144,709,136
Ensembl chr X:154,504,795...154,547,773
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G |
ZFP92 |
ZFP92 zinc finger protein |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:142,961,821...142,976,962
Ensembl chr X:152,848,217...152,863,236
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G |
ZNF185 |
zinc finger protein 185 with LIM domain |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
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:142,472,497...142,547,835
Ensembl chr X:152,391,505...152,464,221
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G |
ARFGEF2 |
ADP ribosylation factor guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Periventricular laminar heterotopia |
ClinVar |
PMID:28492532 |
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NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518
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G |
ARFGEF2 |
ADP ribosylation factor guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive |
OMIM ClinVar |
PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 PMID:23812912 PMID:25741868 PMID:25741916 PMID:26467025 PMID:27535533 PMID:28492532 More...
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NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518
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G |
DCHS1 |
dachsous cadherin-related 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24056717 |
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NCBI chr11:6,753,383...6,787,896
Ensembl chr11:6,436,536...6,456,352
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G |
FAT4 |
FAT atypical cadherin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24056717 |
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NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
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G |
FLNA |
filamin A |
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ISO |
ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 |
ClinVar |
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20301567 PMID:20598277 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:30089473 PMID:30143558 PMID:30675029 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33448881 PMID:34858435 PMID:35000503 PMID:36110220 More...
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NCBI chr X:143,799,088...143,825,282
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HCFC1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,502,159...143,526,418
Ensembl chr X:153,389,859...153,412,999
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G |
IRAK1 |
interleukin 1 receptor associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,560,802...143,570,185
Ensembl chr X:153,446,827...153,460,602
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G |
MECP2 |
methyl-CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854
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G |
NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,484,008...143,489,904
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G |
RENBP |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,490,103...143,499,487
Ensembl chr X:153,376,847...153,386,214
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G |
TEX28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,711,495...143,736,128
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G |
TKTL1 |
transketolase like 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,736,589...143,772,277
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G |
TMEM187 |
transmembrane protein 187 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,527,152...143,533,708
Ensembl chr X:153,419,802...153,420,587
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G |
NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: Chromosome 5Q14.3 deletion syndrome, distal |
ClinVar |
PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 |
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NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423
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G |
ERMARD |
ER membrane associated RNA degradation |
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ISO |
ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 |
OMIM ClinVar |
PMID:24056535 PMID:25741868 PMID:28492532 |
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NCBI chr 6:167,823,630...167,854,200
Ensembl chr 6:172,861,675...172,891,822
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G |
NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 PMID:32238909 More...
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NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423
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G |
ARF1 |
ADP ribosylation factor 1 |
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ISO |
ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 |
OMIM ClinVar |
PMID:25741868 PMID:28868155 |
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NCBI chr 1:203,484,803...203,501,395
Ensembl chr 1:208,695,615...208,712,105
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G |
MAP1B |
microtubule associated protein 1B |
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ISO |
ClinVar Annotator: match by term: MAP1B-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 9 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29738522 PMID:30150678 PMID:30979967 PMID:31317654 PMID:33268592 More...
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NCBI chr 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393
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