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G |
Agtr2 |
angiotensin II receptor, type 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12089445 |
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NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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G |
Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21807943 |
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NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513
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G |
Arx |
aristaless related homeobox |
|
ISO |
DNA:missense mutation:cds:p.L33P (human) DNA:duplication:exon:c.428-451dup (human) |
RGD |
PMID:11971879 PMID:15850492 |
RGD:1599257, RGD:11565836 |
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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G |
Atrx |
ATRX, chromatin remodeler |
|
ISO |
DNA:missense mutation:cds:p.T1621M (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19291773 PMID:12116232 |
RGD:11040586 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19165920 PMID:19377476 |
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NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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G |
Dipk2b |
divergent protein kinase domain 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21264219 |
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NCBI chr X:4,205,486...4,274,939
Ensembl chr X:4,205,490...4,271,574
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G |
Dlg3 |
discs large MAGUK scaffold protein 3 |
|
ISO |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15185169 PMID:15185169 |
RGD:1300392 |
NCBI chr X:65,859,653...65,911,887
Ensembl chr X:65,860,172...65,910,322
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G |
Efhc2 |
EF-hand domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked |
ClinVar |
PMID:17221867 PMID:25741868 |
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NCBI chr X:5,360,499...5,564,004
Ensembl chr X:5,360,617...5,560,970
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G |
Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11940089 |
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NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:frameshift mutation:cds:p.S396PfsX15 (human) |
CTD RGD |
PMID:8826463 PMID:9668174 PMID:22002931 |
RGD:13208827 |
NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED | ClinVar Annotator: match by term: Mental retardation, X-linked |
ClinVar |
PMID:23000143 PMID:25740848 PMID:25741868 |
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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 |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED |
ClinVar |
PMID:25741868 |
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NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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G |
Il1rapl1 |
interleukin 1 receptor accessory protein-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18801879 |
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NCBI chr X:51,371,969...52,876,726
Ensembl chr X:51,378,215...52,876,772
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20473311 |
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NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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G |
Maoa |
monoamine oxidase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8503438 |
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NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
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G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
DNA:missense mutations:cds:p.E137G, p.R167W (human) |
RGD |
PMID:11309367 |
RGD:1601320 |
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Med12 |
mediator complex subunit 12 |
|
ISO |
DNA:duplication mutation:cds:c.5898dupC(p.S1967Qfs84)(human) DNA:missense mutation:cds:2881C>T(p.R961W)(human) |
RGD |
PMID:24039113 PMID:17334363 |
RGD:12910947, RGD:12910952 |
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Ophn1 |
oligophrenin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:deletion:exon DNA:frameshift mutation:exon:p.P199_V200insEFSLLMNGLKIFIKCL (human) |
CTD RGD |
PMID:17941886 PMID:12805098 PMID:21796728 |
RGD:13207442, RGD:13207441 |
NCBI chr X:63,599,746...63,976,678
Ensembl chr X:63,603,042...63,976,633
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G |
Pcdh19 |
protocadherin 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18469813 |
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NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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G |
Pqbp1 |
polyglutamine binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14634649 PMID:15024694 |
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NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
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G |
Ptchd1 |
patched domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21091464 |
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NCBI chr X:39,681,910...39,733,416
Ensembl chr X:39,681,910...39,733,519
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G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18350323 |
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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 |
Smarca1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED |
ClinVar |
PMID:25741868 |
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NCBI chr X:126,980,201...127,066,385
Ensembl chr X:126,994,947...127,066,347
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G |
Syp |
synaptophysin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19377476 |
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NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
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G |
Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17704778 |
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NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
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G |
Zfp711 |
zinc finger protein 711 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19377476 |
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NCBI chr X:77,646,300...77,679,398
Ensembl chr X:77,646,558...77,678,045
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy OMIM:300100 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 PMID:7581394 PMID:7668254 PMID:7677014 PMID:7717396 PMID:7811247 PMID:7825602 PMID:7849718 PMID:7849723 PMID:7860075 PMID:7894167 PMID:7904210 PMID:7998779 PMID:8040304 PMID:8048932 PMID:8353949 PMID:8441467 PMID:8535452 PMID:8566952 PMID:8621506 PMID:8651290 PMID:8773611 PMID:8888042 PMID:8889593 PMID:8892025 PMID:9051655 PMID:9088111 PMID:9195223 PMID:9212180 PMID:9242200 PMID:9384614 PMID:9425230 PMID:9452087 PMID:9536098 PMID:9551465 PMID:9553942 PMID:9556301 PMID:9584268 PMID:9846054 PMID:9894883 PMID:10190819 PMID:10227685 PMID:10369742 PMID:10480214 PMID:10480364 PMID:10551832 PMID:10737980 PMID:10815658 PMID:10980309 PMID:10980539 PMID:11063720 PMID:11102997 PMID:11220738 PMID:11248239 PMID:11310629 PMID:11330045 PMID:11336405 PMID:11438993 PMID:11739809 PMID:11748843 PMID:11798073 PMID:11810273 PMID:11968085 PMID:12175782 PMID:12402273 PMID:12530690 PMID:12624723 PMID:12913200 PMID:14533738 PMID:14586615 PMID:14713218 PMID:14767898 PMID:15032602 PMID:15192815 PMID:15284851 PMID:15333254 PMID:15388659 PMID:15564782 PMID:15643618 PMID:15800013 PMID:15811009 PMID:15812458 PMID:15878823 PMID:16018167 PMID:16023551 PMID:16087056 PMID:16199547 PMID:16319717 PMID:16401743 PMID:16415970 PMID:16427346 PMID:16601897 PMID:16672758 PMID:16684786 PMID:16949688 PMID:16996397 PMID:17029209 PMID:17202797 PMID:17285533 PMID:17372139 PMID:17498713 PMID:17504626 PMID:17542813 PMID:17576681 PMID:17602313 PMID:17990484 PMID:18206987 PMID:18306728 PMID:18973459 PMID:19129531 PMID:19234479 PMID:19325113 PMID:19396829 PMID:19496984 PMID:19592040 PMID:19660195 PMID:19846429 PMID:19892975 PMID:19963315 PMID:20008255 PMID:20195870 PMID:20228476 PMID:20301491 PMID:20376793 PMID:20455653 PMID:20626745 PMID:20661612 PMID:20730588 PMID:20800589 PMID:20849526 PMID:20859061 PMID:21068741 PMID:21264817 PMID:21300044 PMID:21476988 PMID:21478203 PMID:21488864 PMID:21586746 PMID:21700483 PMID:21889498 PMID:21907609 PMID:21966424 PMID:22045812 PMID:22057157 PMID:22176151 PMID:22189598 PMID:22198747 PMID:22280810 PMID:22281021 PMID:22366764 PMID:22382802 PMID:22479560 PMID:22483867 PMID:22687851 PMID:22914231 PMID:23009600 PMID:23154058 PMID:23300730 PMID:23409742 PMID:23419472 PMID:23430809 PMID:23469258 PMID:23566833 PMID:23566848 PMID:23651979 PMID:23660394 PMID:23664929 PMID:23671276 PMID:23712774 PMID:23768953 PMID:23835273 PMID:23864971 PMID:23926373 PMID:24154795 PMID:24365856 PMID:24480483 PMID:24685009 PMID:24719134 PMID:24722136 PMID:24788897 PMID:24962355 PMID:25118695 PMID:25275259 PMID:25324868 PMID:25741868 PMID:25835273 PMID:25835712 PMID:25999754 PMID:26227820 PMID:26260157 PMID:26266984 PMID:26388597 PMID:26454440 PMID:26467025 PMID:26471271 PMID:26523528 PMID:26607867 PMID:26609365 PMID:27067449 PMID:27489563 PMID:27766264 PMID:27779215 PMID:27928321 PMID:27934597 PMID:28086082 PMID:28089346 PMID:28216041 PMID:28456143 PMID:28481932 PMID:28492532 PMID:28503596 PMID:28601575 PMID:28708278 PMID:28953922 PMID:28991658 PMID:29056270 PMID:29284317 PMID:29334594 PMID:29443243 PMID:29557549 PMID:29950168 PMID:30069915 PMID:30293248 PMID:30544401 PMID:30564185 PMID:30658899 PMID:30902905 PMID:31074578 PMID:31104286 PMID:31227335 PMID:31316545 PMID:31452695 PMID:31526374 PMID:31557422 PMID:31777199 PMID:32003821 PMID:32047678 PMID:32101828 PMID:32207279 PMID:32307584 PMID:32403196 PMID:32954314 PMID:33151932 PMID:33247909 PMID:33359056 PMID:33547378 PMID:33920672 PMID:34008892 PMID:34012265 PMID:34302356 PMID:34946879 PMID:35053399 PMID:35076462 PMID:35196747 PMID:35466195 PMID:35535697 PMID:8048932 More...
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RGD:1598655 |
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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G |
Acsbg1 |
acyl-CoA synthetase bubblegum family member 1 |
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ISO |
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RGD |
PMID:15800013 |
RGD:11065111 |
NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391
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G |
Arhgap4 |
Rho GTPase activating protein 4 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:25741868 PMID:26471271 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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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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|
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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: Adrenoleukodystrophy |
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: Adrenoleukodystrophy |
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: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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: Adrenoleukodystrophy |
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: Adrenoleukodystrophy |
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:152,007,758...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: Adrenoleukodystrophy |
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: Adrenoleukodystrophy |
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: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:82,362,531...82,363,105
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: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
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NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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G |
Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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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: Adrenoleukodystrophy |
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: Adrenoleukodystrophy |
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:151,768,621...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: Adrenoleukodystrophy |
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:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Lage3 |
L antigen family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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: Adrenoleukodystrophy |
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:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Mmp10 |
matrix metallopeptidase 10 |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10441568 |
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NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
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G |
Pex26 |
peroxisomal biogenesis factor 26 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12851857 |
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NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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G |
Plxna3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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G |
Rpl10 |
ribosomal protein L10 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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G |
Slc10a3 |
solute carrier family 10, member 3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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: Adrenoleukodystrophy |
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:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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G |
Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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: Adrenoleukodystrophy |
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:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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Timp1 |
TIMP metallopeptidase inhibitor 1 |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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G |
Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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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Ubl4a |
ubiquitin-like 4A |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
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 |
Slc16a2 |
solute carrier family 16 member 2 |
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ISO ISS |
ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy OMIM:300523 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 PMID:15889350 PMID:15980113 PMID:16417886 PMID:17356046 PMID:18187543 PMID:18398436 PMID:18414213 PMID:18636565 PMID:20083155 PMID:20301789 PMID:23568789 PMID:23744248 PMID:24265446 PMID:24721225 PMID:25167861 PMID:25517855 PMID:25527620 PMID:25741868 PMID:27081503 PMID:27212794 PMID:27805744 PMID:28492532 PMID:30369548 PMID:31410843 PMID:31585110 PMID:31690835 PMID:32277047 PMID:32559475 PMID:33847015 More...
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NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771
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Atp7a |
ATPase copper transporting alpha |
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ISO |
ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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G |
Atr |
ATR serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: ATR-X-related syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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G |
Atrx |
ATRX, chromatin remodeler |
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ISO ISS |
ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: X-linked alpha-thalassemia-mental retardation syndrome OMIM:301040 CTD Direct Evidence: marker/mechanism DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human) DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human) DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:3239563 PMID:3658675 PMID:6682021 PMID:6711605 PMID:7506096 PMID:7697714 PMID:7726225 PMID:8630485 PMID:8644709 PMID:8968741 PMID:9244431 PMID:9326931 PMID:9536098 PMID:9598720 PMID:10204841 PMID:10398237 PMID:10417298 PMID:10632111 PMID:10660327 PMID:10995512 PMID:11050622 PMID:12116232 PMID:12673795 PMID:15508018 PMID:15591283 PMID:16199547 PMID:16763962 PMID:16813605 PMID:16935875 PMID:16955409 PMID:17576681 PMID:17579672 PMID:17609377 PMID:18409179 PMID:18414213 PMID:19291773 PMID:20500465 PMID:20655035 PMID:21421568 PMID:21505078 PMID:22129561 PMID:22659343 PMID:22796527 PMID:22995991 PMID:23352163 PMID:23681356 PMID:24082139 PMID:24289169 PMID:24327140 PMID:24690944 PMID:24728327 PMID:24759409 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25640679 PMID:25644381 PMID:25741868 PMID:26350204 PMID:26467025 PMID:26539891 PMID:28027854 PMID:28293299 PMID:28371217 PMID:28492530 PMID:28492532 PMID:28708303 PMID:29158550 PMID:29304373 PMID:29602769 PMID:29790871 PMID:29910053 PMID:31130284 PMID:32170002 PMID:32595695 PMID:35229910 PMID:35904121 PMID:24289169 PMID:24327140 PMID:24805811 More...
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RGD:9586030, RGD:9586029, RGD:9586027 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Cox7b |
cytochrome c oxidase subunit 7B |
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ISO |
ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr X:71,083,486...71,089,733
Ensembl chr X:71,083,456...71,089,732
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G |
Gba1 |
glucosylceramidase beta 1 |
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ISO |
ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
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G |
Magt1 |
magnesium transporter 1 |
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ISO |
ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr X:71,038,489...71,079,704
Ensembl chr X:71,038,489...71,079,699
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G |
Fam50a |
family with sequence similarity 50, member A |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Armfield syndrome | ClinVar Annotator: match by term: FAM50A-related condition |
OMIM CTD ClinVar |
PMID:10398235 PMID:25741868 PMID:32703943 |
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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 |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) |
RGD |
PMID:17701896 |
RGD:12910562 |
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision |
OMIM CTD ClinVar |
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 PMID:17701896 PMID:17701900 PMID:19161981 PMID:20301731 PMID:22246954 PMID:24033266 PMID:24528855 PMID:25741868 PMID:26089585 PMID:28492532 PMID:28967191 PMID:31906484 PMID:32781272 More...
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NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
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ISO |
ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome |
ClinVar |
PMID:26059843 PMID:28492532 |
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NCBI chr X:21,089,142...21,091,603
Ensembl chr X:21,089,122...21,109,488
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Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome |
ClinVar |
PMID:26059843 PMID:28492532 |
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NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISO |
ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, nonspecific |
ClinVar |
PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9536098 PMID:9628581 PMID:12210308 PMID:15197169 PMID:15669143 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19052029 PMID:19344873 PMID:20473311 PMID:21686261 PMID:23020937 PMID:23674175 PMID:23683030 PMID:23934111 PMID:24306141 PMID:24759409 PMID:25649377 PMID:25741868 PMID:25914188 PMID:26059843 PMID:26467025 PMID:26539891 PMID:26544041 PMID:26633542 PMID:26733290 PMID:26793055 PMID:26795593 PMID:27009485 PMID:27062609 PMID:27369185 PMID:27535533 PMID:27652284 PMID:27665735 PMID:27864847 PMID:28220259 PMID:28295041 PMID:28492532 PMID:28815955 PMID:29026562 PMID:29100083 PMID:29302074 PMID:29322350 PMID:29720203 PMID:30206421 PMID:30328660 PMID:30666632 PMID:30842726 PMID:31415821 PMID:31512412 PMID:32005694 PMID:33368194 PMID:33624935 PMID:33753861 PMID:34906502 More...
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NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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G |
Kdm5c |
lysine demethylase 5C |
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ISO |
ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome |
ClinVar |
PMID:26059843 PMID:28492532 |
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NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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G |
Mir98 |
microRNA 98 |
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ISO |
ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome |
ClinVar |
PMID:26059843 PMID:28492532 |
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NCBI chr X:20,981,235...20,981,342
Ensembl chr X:20,981,235...20,981,342
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G |
Mirlet7f2 |
microRNA let-7f-2 |
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ISO |
ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome |
ClinVar |
PMID:26059843 PMID:28492532 |
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NCBI chr X:20,980,632...20,980,714
Ensembl chr X:20,980,632...20,980,714
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G |
Ribc1 |
RIB43A domain with coiled-coils 1 |
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ISO |
ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome |
ClinVar |
PMID:26059843 PMID:28492532 |
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NCBI chr X:21,091,717...21,103,688
Ensembl chr X:21,091,717...21,103,200
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G |
Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome |
ClinVar |
PMID:19052029 PMID:23683030 PMID:26059843 PMID:28492532 |
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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G |
Msl3 |
MSL complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Basilicata-Akhtar syndrome |
OMIM ClinVar |
PMID:25741868 PMID:30224647 PMID:33173220 |
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NCBI chr X:25,638,029...25,655,698
Ensembl chr X:25,637,804...25,655,697
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G |
Phf6 |
PHD finger protein 6 |
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ISO ISS |
OMIM:301900 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders |
OMIM MouseDO CTD ClinVar |
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24092917 PMID:24728327 PMID:25099957 PMID:25741868 PMID:25741869 PMID:26648834 PMID:27633282 PMID:28492532 PMID:28539120 PMID:28554332 PMID:30630810 More...
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NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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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:151,428,334...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 |
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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:152,079,954...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...151,636,155
Ensembl chr X:151,633,522...151,635,989
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
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G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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
|
|
G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
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 |
|
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 |
|
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:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Pdzd4 |
PDZ domain containing 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:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Plxna3 |
plexin A3 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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G |
Slc10a3 |
solute carrier family 10, member 3 |
|
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 |
|
ISO ISS |
ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency OMIM:300352 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO 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:18925426 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:22644605 PMID:22659343 PMID:23220634 PMID:23234264 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 |
|
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 |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 PMID:24002164 PMID:24088041 PMID:25583628 PMID:25590979 PMID:25741868 PMID:25934856 PMID:25986071 PMID:26173962 PMID:26257172 PMID:27102849 PMID:28492532 PMID:28842795 PMID:28967629 PMID:31523922 PMID:32376792 More...
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NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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G |
Rab33a |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation |
ClinVar |
PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 PMID:24002164 PMID:24088041 PMID:25583628 PMID:25590979 PMID:25741868 PMID:25934856 PMID:25986071 PMID:26173962 PMID:26257172 PMID:27102849 PMID:28492532 PMID:28842795 PMID:28967629 PMID:31523922 PMID:32376792 More...
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NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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G |
Adgrg4 |
adhesion G protein-coupled receptor G4 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449
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G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
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G |
Brs3 |
bombesin receptor subtype 3 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
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G |
Cd40lg |
CD40 ligand |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
|
ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 PMID:19564592 PMID:20397747 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:23064044 PMID:25657822 PMID:25741868 PMID:26467025 PMID:27770071 PMID:28492532 More...
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Fhl1 |
four and a half LIM domains 1 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
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G |
Gpr101 |
G protein-coupled receptor 101 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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G |
Hivep2 |
HIVEP zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993
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G |
Htatsf1 |
HIV-1 Tat specific factor 1 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
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G |
Map7d3 |
MAP7 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
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G |
Rbmx |
RNA binding motif protein, X-linked |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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|
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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G |
Rs1 |
retinoschisin 1 |
|
ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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Slc9a6 |
solute carrier family 9 member A6 |
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ISO ISS |
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE OMIM:300243 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 PMID:17576681 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:21465648 PMID:24123876 PMID:24123890 PMID:25044251 PMID:25167861 PMID:25741868 PMID:26467025 PMID:27256868 PMID:27854218 PMID:28492532 PMID:29275387 PMID:29588952 PMID:32581362 PMID:32776513 PMID:32860008 PMID:35032046 PMID:35334527 More...
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NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
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Vgll1 |
vestigial-like family member 1 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:134,979,657...134,996,007
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Zic3 |
Zic family member 3 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: HUWE1-Related Disorder |
ClinVar |
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NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: CK syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 |
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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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Dcx |
doublecortin |
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ISO |
DNA:missense mutation:exon:p.D262G (c.785A>G) (human) ClinVar Annotator: match by term: Lissencephaly, X-linked CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.A71S (211G>T) (human) DNA:missense mutations: :multiple |
ClinVar CTD RGD |
PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 PMID:25741868 PMID:28492532 PMID:35213059 PMID:27292316 PMID:11071144 PMID:12838518 More...
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RGD:11568595, RGD:12904735, RGD:12904728 |
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Lamb1 |
laminin subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Classic lissencephaly |
ClinVar |
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NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
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Mnt |
MAX network transcriptional repressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15028671 |
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NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835
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Pafah1b1 |
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia |
ClinVar |
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NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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Adgrg2 |
adhesion G protein-coupled receptor G2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
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Bclaf3 |
BCLAF1 and THRAP3 family member 3 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:35,257,228...35,328,883
Ensembl chr X:35,263,576...35,328,816
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Bend2 |
BEN domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:33,365,748...33,389,773
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Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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Eif1ax |
eukaryotic translation initiation factor 1A, X-linked |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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Map3k15 |
mitogen-activated protein kinase kinase kinase 15 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,713,150...34,859,054
Ensembl chr X:34,713,175...34,858,807
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Map7d2 |
MAP7 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:35,372,453...35,488,073
Ensembl chr X:35,372,700...35,488,091
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Nhs |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:32,553,300...32,892,961
Ensembl chr X:32,552,026...32,889,992
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Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466
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Ppef1 |
protein phosphatase with EF-hand domain 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701
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Rai2 |
retinoic acid induced 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:32,948,656...33,011,222
Ensembl chr X:32,948,656...33,011,264
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Rps6ka3 |
ribosomal protein S6 kinase A3 |
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ISO ISS |
ClinVar Annotator: match by term: Coffin syndrome | ClinVar Annotator: match by term: Coffin-Lowry syndrome OMIM:303600 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:5581017 PMID:8955270 PMID:9536098 PMID:9837815 PMID:9887375 PMID:10094187 PMID:10528858 PMID:11180593 PMID:11992250 PMID:12439904 PMID:12558110 PMID:14986828 PMID:15214012 PMID:15668050 PMID:16199547 PMID:16306095 PMID:16879200 PMID:17304053 PMID:17576681 PMID:17717706 PMID:18076117 PMID:18414213 PMID:19377476 PMID:19888300 PMID:21488662 PMID:25044551 PMID:25315662 PMID:25741868 PMID:26043507 PMID:26232052 PMID:28492532 PMID:29304373 PMID:30945684 PMID:31130284 PMID:31319225 PMID:32371413 More...
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NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
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Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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Scml1 |
Scm polycomb group protein like 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:32,893,100...32,912,686
Ensembl chr X:32,894,327...32,911,366
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Scml2 |
Scm polycomb group protein like 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742
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Sh3kbp1 |
SH3 domain-containing kinase-binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
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Igbp1 |
immunoglobulin binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition |
OMIM CTD ClinVar |
PMID:25741868 |
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NCBI chr X:65,582,832...65,605,078
Ensembl chr X:65,582,821...65,606,049
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Akap14 |
A-kinase anchoring protein 14 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,395,512...116,410,697
Ensembl chr X:116,395,516...116,410,697
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G |
Atp1b4 |
ATPase Na+/K+ transporting family member beta 4 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:117,087,284...117,108,023
Ensembl chr X:117,057,423...117,108,020
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Lamp2 |
lysosomal-associated membrane protein 2 |
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ISO ISS IMP |
ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy OMIM:300257 CTD Direct Evidence: marker/mechanism in hemizygote mutant male (LAMP2y/-) |
OMIM ClinVar MouseDO CTD RGD |
PMID:3087571 PMID:6408499 PMID:6450334 PMID:8504498 PMID:9536098 PMID:10972294 PMID:12112061 PMID:14598234 PMID:15253947 PMID:15673802 PMID:15792868 PMID:15889279 PMID:15907287 PMID:16144992 PMID:16190986 PMID:16199547 PMID:16217705 PMID:16565504 PMID:17576681 PMID:17899313 PMID:18061453 PMID:18282207 PMID:18312451 PMID:18555174 PMID:18990578 PMID:19318653 PMID:19373884 PMID:19533775 PMID:20173215 PMID:20445193 PMID:20960602 PMID:21070164 PMID:21415759 PMID:21520333 PMID:21896538 PMID:22074992 PMID:22695892 PMID:23168931 PMID:23785128 PMID:23955649 PMID:24033266 PMID:24503780 PMID:24691104 PMID:25091525 PMID:25326635 PMID:25458169 PMID:25525159 PMID:25611685 PMID:25640679 PMID:25741868 PMID:25826782 PMID:26748608 PMID:27179547 PMID:27460667 PMID:27532257 PMID:27600940 PMID:27678261 PMID:27816333 PMID:28255936 PMID:28491796 PMID:28492532 PMID:28771489 PMID:28822614 PMID:28874292 PMID:29753918 PMID:29875424 PMID:29915097 PMID:29961767 PMID:30019023 PMID:30108015 PMID:30847666 PMID:30984009 PMID:31464081 PMID:31638414 PMID:31729179 PMID:33226119 PMID:33495597 PMID:34906502 PMID:29720683 More...
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RGD:13703117 |
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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Lamp2em1 |
lysosomal-associated membrane protein 2; TALEN induced mutant1 |
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IMP |
in hemizygote mutant male (LAMP2y/-) |
RGD |
PMID:29720683 |
RGD:13703117 |
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Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633
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Nkap |
NFKB activating protein |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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Rhox13 |
Rhox homeobox family member 13 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,911,226...116,917,758
Ensembl chr X:116,911,329...116,917,644
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Rhoxf2b |
Rhox homeobox family member 2B |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870
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Rnf113a1 |
ring finger protein 113A1 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762
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Tmem255a |
transmembrane protein 255A |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008
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G |
Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
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Zbtb33 |
zinc finger and BTB domain containing 33 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023
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Adgrg2 |
adhesion G protein-coupled receptor G2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
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G |
Atp6v1a |
ATPase H+ transporting V1 subunit A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:25741868 |
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NCBI chr11:56,561,444...56,614,694
Ensembl chr11:56,560,974...56,614,694
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G |
Bclaf3 |
BCLAF1 and THRAP3 family member 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:35,257,228...35,328,883
Ensembl chr X:35,263,576...35,328,816
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Bend2 |
BEN domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 More...
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NCBI chr X:33,365,748...33,389,773
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Cdkl5 |
cyclin-dependent kinase-like 5 |
severity |
ISO ISS |
DNA:mutations:cds: ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: CDKL5-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 | ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2 OMIM:300672 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:9536098 PMID:10533068 PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16199547 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17304053 PMID:17546640 PMID:17576681 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18266744 PMID:18414213 PMID:18564362 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19396824 PMID:19428276 PMID:19471977 PMID:19564592 PMID:19740913 PMID:19763152 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20307669 PMID:20397747 PMID:20479760 PMID:20493745 PMID:20602487 PMID:20848651 PMID:21160487 PMID:21293276 PMID:21309761 PMID:21318334 PMID:21482751 PMID:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22406018 PMID:22430159 PMID:22670135 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22922712 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23708187 PMID:23756444 PMID:23828526 PMID:23934111 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25640679 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26112015 PMID:26271793 PMID:26467025 PMID:26482601 PMID:26544041 PMID:26993267 PMID:27081548 PMID:27187038 PMID:27265524 PMID:27334371 PMID:27391121 PMID:27599155 PMID:27770071 PMID:27779742 PMID:27823948 PMID:27824329 PMID:27848944 PMID:28074849 PMID:28386848 PMID:28492532 PMID:28837158 PMID:29095814 PMID:29100083 PMID:29186148 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29455050 PMID:29655203 PMID:29852413 PMID:30182498 PMID:30266825 PMID:30460546 PMID:30624022 PMID:30776697 PMID:30898514 PMID:30945278 PMID:30945684 PMID:31031587 PMID:31313283 PMID:31487502 PMID:31492455 PMID:31690835 PMID:31780880 PMID:31791873 PMID:33436160 PMID:33538404 PMID:34229227 PMID:36703223 PMID:22678952 More...
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RGD:12791015 |
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Eif1ax |
eukaryotic translation initiation factor 1A, X-linked |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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G |
Map3k15 |
mitogen-activated protein kinase kinase kinase 15 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,713,150...34,859,054
Ensembl chr X:34,713,175...34,858,807
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G |
Map7d2 |
MAP7 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:35,372,453...35,488,073
Ensembl chr X:35,372,700...35,488,091
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G |
Nhs |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 More...
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NCBI chr X:32,553,300...32,892,961
Ensembl chr X:32,552,026...32,889,992
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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G |
Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466
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G |
Ppef1 |
protein phosphatase with EF-hand domain 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701
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G |
Rai2 |
retinoic acid induced 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 More...
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NCBI chr X:32,948,656...33,011,222
Ensembl chr X:32,948,656...33,011,264
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G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:9536098 PMID:10533068 PMID:15499549 PMID:16813600 PMID:17304053 PMID:17546640 PMID:17576681 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:22872100 PMID:23064044 PMID:23184456 PMID:23756444 PMID:23828526 PMID:25315662 PMID:25640679 PMID:25741868 PMID:26112015 PMID:26467025 PMID:27824329 PMID:28492532 PMID:29264392 PMID:29655203 PMID:30624022 PMID:30945684 PMID:36703223 More...
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NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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G |
Scml1 |
Scm polycomb group protein like 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 More...
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NCBI chr X:32,893,100...32,912,686
Ensembl chr X:32,894,327...32,911,366
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G |
Scml2 |
Scm polycomb group protein like 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 More...
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NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742
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G |
Sh3kbp1 |
SH3 domain-containing kinase-binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
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G |
Snap25 |
synaptosome associated protein 25 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted | ClinVar Annotator: match by term: USP9X-related condition |
OMIM CTD ClinVar |
PMID:25741868 PMID:26833328 PMID:28492532 PMID:34008892 |
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NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
DNA:missense mutation:exon:p.R28L (c.83G>T) (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19200522 |
RGD:11576290 |
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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G |
Flna |
filamin A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17632775 |
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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 |
Med12 |
mediator complex subunit 12 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome DNA:missense mutation:cds:2881C>T(p.R961W)(human) DNA:missense mutation:cds:p.G958E(human) |
CTD ClinVar RGD |
PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 PMID:16199547 PMID:16700052 PMID:17334363 PMID:17369503 PMID:17576681 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:23395478 PMID:23757202 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26350204 PMID:26813965 PMID:27081531 PMID:27312080 PMID:27500536 PMID:27620904 PMID:27980443 PMID:28369444 PMID:28492532 PMID:28544239 PMID:28794916 PMID:30006928 PMID:30729724 PMID:31536828 PMID:32371413 PMID:32682435 PMID:32715471 PMID:32779332 PMID:33023636 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34008892 PMID:34079076 PMID:36271811 PMID:17334363 PMID:20507344 More...
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RGD:12910952, RGD:12910948 |
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Foxo4 |
forkhead box O4 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115
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G |
Gjb1 |
gap junction protein, beta 1 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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G |
Il2rg |
interleukin 2 receptor subunit gamma |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823
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G |
Itgb1bp2 |
integrin subunit beta 1 binding protein 2 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,572,537...66,577,174
Ensembl chr X:66,572,537...66,577,174
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
OMIM ClinVar |
PMID:6711603 PMID:8279489 PMID:9286458 PMID:9536098 PMID:10405444 PMID:10982179 PMID:16199547 PMID:16700052 PMID:17334363 PMID:17369503 PMID:17576681 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20507344 PMID:20981778 PMID:23091001 PMID:23395478 PMID:23506379 PMID:23757202 PMID:24033266 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25644381 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26350204 PMID:26467025 PMID:26813965 PMID:27081531 PMID:27286923 PMID:27312080 PMID:27500536 PMID:27620904 PMID:27980443 PMID:28369444 PMID:28492532 PMID:28544239 PMID:28794916 PMID:30006928 PMID:30729724 PMID:31322785 PMID:31536828 PMID:32174975 PMID:32371413 PMID:32410215 PMID:32682435 PMID:32715471 PMID:32779332 PMID:33023636 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34008892 PMID:34079076 PMID:36271811 More...
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NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Nlgn3 |
neuroligin 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876
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G |
Nono |
non-POU domain containing, octamer-binding |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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G |
Slc7a3 |
solute carrier family 7 member 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,210,071...66,216,482
Ensembl chr X:66,210,081...66,215,708
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G |
Snx12 |
sorting nexin 12 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,226,995...66,356,945
Ensembl chr X:66,227,053...66,356,950
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G |
Taf1 |
TATA-box binding protein associated factor 1 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,640,915...66,716,543
Ensembl chr X:66,640,982...66,716,543
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G |
Tex11 |
testis expressed 11 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:65,932,904...66,196,525
Ensembl chr X:65,932,988...66,196,187
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G |
Zmym3 |
zinc finger MYM-type containing 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,528,585...66,544,234
Ensembl chr X:66,528,585...66,544,782
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: FG syndrome 2 |
OMIM ClinVar |
PMID:10982489 PMID:12612583 PMID:16299064 PMID:16417552 PMID:16822260 PMID:17632775 PMID:18414213 PMID:22522697 PMID:25167861 PMID:25741868 PMID:26467025 PMID:28133863 PMID:28492532 PMID:29720203 PMID:30089473 PMID:30986657 PMID:35000503 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 |
Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4 |
OMIM ClinVar |
PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23406872 PMID:23871722 PMID:24505460 PMID:24781210 PMID:25741868 PMID:27652284 PMID:27799067 PMID:28139025 PMID:28492532 PMID:28944139 PMID:29878067 PMID:30525188 PMID:30549415 PMID:33090494 More...
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NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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G |
Adgb |
androglobin |
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ISO |
ClinVar Annotator: match by term: Fragile X syndrome |
ClinVar |
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NCBI chr 1:4,753,621...4,896,268
Ensembl chr 1:4,753,621...4,896,190
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G |
Aff2 |
ALF transcription elongation factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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G |
App |
amyloid beta precursor protein |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22046307 |
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NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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G |
Cyfip1 |
cytoplasmic FMR1 interacting protein 1 |
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ISO |
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RGD |
PMID:22900020 |
RGD:11558008 |
NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
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ISO |
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RGD |
PMID:24352881 |
RGD:10401097 |
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
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ISO ISS IMP |
DNA:trinucleotide expansion ClinVar Annotator: match by term: Fragile X syndrome OMIM:300624 compared to SD control;DNA:deletion:intron 7, exon 8: CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:7530551 PMID:7633450 PMID:7670500 PMID:8156595 PMID:8490650 PMID:9659908 PMID:15028757 PMID:15805463 PMID:16043816 PMID:16510718 PMID:17065172 PMID:18664458 PMID:18835858 PMID:20300527 PMID:21267007 PMID:22043169 PMID:25171808 PMID:25741868 PMID:28616095 PMID:33181255 PMID:35091116 PMID:1675488 PMID:30877790 PMID:27465362 PMID:28894415 PMID:24713347 PMID:12032354 More...
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RGD:1601178, RGD:38548928, RGD:38548926, RGD:38501107, RGD:11566052, RGD:11566028 |
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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G |
Fmr1em1Mzhe |
FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe |
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IMP |
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RGD |
PMID:28894415 |
RGD:38501107 |
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G |
Fmr1em1Sage |
FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs |
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IMP |
DNA:deletion:intron 7, exon 8: compared to SD control;DNA:deletion:intron 7, exon 8: |
RGD |
PMID:27465362 PMID:30877790 |
RGD:38548926, RGD:38548928 |
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G |
Grm1 |
glutamate metabotropic receptor 1 |
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ISO |
ClinVar Annotator: match by term: Fragile X syndrome |
ClinVar |
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NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
protein:increased expression:brain |
RGD |
PMID:25466251 PMID:26850918 |
RGD:13204755, RGD:11572344 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Nrxn3 |
neurexin 3 |
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ISO |
mRNA:decreased expression:hippocampus,somatosendory cortex |
RGD |
PMID:26235839 |
RGD:11554325 |
NCBI chr 6:107,641,760...109,272,849
Ensembl chr 6:107,641,780...109,272,044
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G |
Rab32 |
RAB32, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Fragile X syndrome |
ClinVar |
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NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
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G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
|
ISO ISS |
OMIM:300623 ClinVar Annotator: match by term: Fragile X-associated tremor/ataxia syndrome human gene in a mouse model CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD RGD |
PMID:27385396 PMID:15876460 |
RGD:12050151 |
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
mRNA:increased expression:prefrontal cortex, brain stem (mouse) |
RGD |
PMID:24418349 |
RGD:8655858 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Nkap |
NFKB activating protein |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type |
OMIM ClinVar |
PMID:25741868 PMID:26358559 PMID:31587868 |
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NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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G |
Ddx3x |
DEAD-box helicase 3, X-linked |
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ISO |
ClinVar Annotator: match by term: DDX3X-related X-linked intellectual disability | ClinVar Annotator: match by term: DDX3X-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE | ClinVar Annotator: match by term: X-linked intellectual disability-hypotonia-movement disorder syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2563148 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:25533962 PMID:25741868 PMID:25741895 PMID:26235985 PMID:26598523 PMID:27159028 PMID:28135719 PMID:28371085 PMID:28492532 PMID:29490693 PMID:30349862 PMID:30734472 PMID:30817323 PMID:30936465 PMID:31474318 PMID:31618753 PMID:31785789 PMID:32135084 PMID:32371413 PMID:32600431 PMID:33504798 PMID:33692367 PMID:33993884 PMID:34008892 More...
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NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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G |
Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE |
ClinVar |
PMID:24746959 PMID:25741868 PMID:28492532 |
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NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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G |
Phip |
pleckstrin homology domain interacting protein |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283
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G |
Sox3 |
SRY-box transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Intellectual disability, X-linked, with panhypopituitarism | ClinVar Annotator: match by term: X-linked intellectual disability with isolated growth hormone deficiency |
OMIM CTD ClinVar |
PMID:8826446 PMID:12428212 PMID:21289259 PMID:23757202 PMID:25741868 PMID:28492532 More...
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NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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ISO ISS |
ClinVar Annotator: match by term: Lesch-Nyhan syndrome OMIM:300322 CTD Direct Evidence: marker/mechanism DNA:deletion,insertion,duplication:cds: DNA:mutations:multiple: |
OMIM ClinVar MouseDO CTD RGD |
PMID:1301916 PMID:1434518 PMID:1551676 PMID:1618489 PMID:1639405 PMID:1781350 PMID:1840549 PMID:1937471 PMID:2071157 PMID:2323782 PMID:2347587 PMID:2516172 PMID:2738157 PMID:2760209 PMID:2910902 PMID:2928313 PMID:3198771 PMID:3384338 PMID:3909940 PMID:3944251 PMID:6087154 PMID:6309910 PMID:6853716 PMID:8664901 PMID:9288634 PMID:10737990 PMID:10767182 PMID:11018746 PMID:11668636 PMID:15386453 PMID:15505382 PMID:15571220 PMID:16199547 PMID:16549399 PMID:17027311 PMID:17454734 PMID:17483691 PMID:18779430 PMID:19016344 PMID:20176575 PMID:20638392 PMID:20981450 PMID:22132984 PMID:22157001 PMID:22999896 PMID:23975452 PMID:25481104 PMID:25741868 PMID:27288985 PMID:28492532 PMID:28708303 PMID:31182398 PMID:24940672 PMID:20638392 More...
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RGD:13463104, RGD:13462064 |
NCBI chr X:132,736,175...132,768,149
Ensembl chr X:132,736,096...132,768,154
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Xdh |
xanthine dehydrogenase |
treatment |
ISO |
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RGD |
PMID:17697859 |
RGD:7247657 |
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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ISO |
DNA,mRNA:missense mutations,decreased expression:cds: ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant |
ClinVar RGD |
PMID:1301916 PMID:2358296 PMID:10737990 PMID:17454734 PMID:20981450 PMID:22157001 PMID:22999896 PMID:25481104 PMID:25741868 PMID:28492532 PMID:24940672 More...
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RGD:13463104 |
NCBI chr X:132,736,175...132,768,149
Ensembl chr X:132,736,096...132,768,154
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G |
Dcx |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked |
ClinVar |
PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 PMID:11331616 PMID:11468322 PMID:12552055 PMID:18414213 PMID:18685874 PMID:22857951 PMID:23365099 PMID:25741868 PMID:28492532 PMID:35213059 More...
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NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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G |
Eif2s3 |
eukaryotic translation initiation factor 2 subunit gamma |
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ISO |
ClinVar Annotator: match by term: MEHMO syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 |
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NCBI chr X:58,916,513...58,939,923
Ensembl chr X:58,917,490...58,940,686
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G |
Atp7a |
ATPase copper transporting alpha |
severity |
ISO ISS |
ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes kinky-hair syndrome OMIM:309400 ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome DNA:duplication:exon: CTD Direct Evidence: marker/mechanism DNA:deletion:exons, introns:p.G876delX2 (human) DNA:mutations:multiple (human) DNA:deletion:cds:p.A799_L800del (mouse) DNA:snp:intron:c.4268+3A>T (human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:7842019 PMID:7977350 PMID:8528242 PMID:8812725 PMID:8981948 PMID:9166584 PMID:9246006 PMID:9385451 PMID:9467005 PMID:9536098 PMID:9668166 PMID:9894833 PMID:10319589 PMID:10393914 PMID:10401004 PMID:10463276 PMID:10570920 PMID:10739752 PMID:11043517 PMID:11092760 PMID:11157799 PMID:11241493 PMID:11350187 PMID:11431706 PMID:11472597 PMID:11936860 PMID:12088078 PMID:12221109 PMID:12228238 PMID:12427520 PMID:12499504 PMID:12537648 PMID:12676902 PMID:12939451 PMID:14579150 PMID:14635105 PMID:14985388 PMID:15106121 PMID:15184642 PMID:15238919 PMID:15372525 PMID:15517445 PMID:15596607 PMID:15693857 PMID:15923132 PMID:15981243 PMID:16083905 PMID:16098018 PMID:16199547 PMID:16435190 PMID:16824500 PMID:16826513 PMID:17003121 PMID:17009961 PMID:17108763 PMID:17427918 PMID:17483305 PMID:17496194 PMID:17502470 PMID:17576681 PMID:18256395 PMID:18272047 PMID:18414213 PMID:18664244 PMID:18752978 PMID:18779302 PMID:19153371 PMID:19194885 PMID:19735987 PMID:19768483 PMID:20045102 PMID:20045993 PMID:20170900 PMID:20301586 PMID:20497190 PMID:20652413 PMID:20799318 PMID:20818383 PMID:20831904 PMID:20932283 PMID:21194679 PMID:21208200 PMID:21242307 PMID:21321493 PMID:21494555 PMID:21667063 PMID:21716286 PMID:21738351 PMID:22019070 PMID:22074552 PMID:22130675 PMID:22206013 PMID:22210628 PMID:22264391 PMID:22361452 PMID:22378671 PMID:22455587 PMID:22552817 PMID:22573628 PMID:22664332 PMID:22695177 PMID:22728746 PMID:22815746 PMID:22981378 PMID:23035047 PMID:23064757 PMID:23108492 PMID:23217327 PMID:23281160 PMID:24033266 PMID:24627433 PMID:24630286 PMID:24919650 PMID:25003971 PMID:25025039 PMID:25150085 PMID:25247420 PMID:25428120 PMID:25583628 PMID:25640679 PMID:25741868 PMID:25817015 PMID:26117549 PMID:26199316 PMID:26467025 PMID:27878136 PMID:28119449 PMID:28251916 PMID:28389643 PMID:28397151 PMID:28451781 PMID:28492532 PMID:29499166 PMID:29653220 PMID:30809870 PMID:31124329 PMID:31319225 PMID:32005694 PMID:32293788 PMID:33999244 PMID:34008892 PMID:34440436 PMID:10739752 PMID:22074552 PMID:20497190 PMID:21208200 PMID:9215672 PMID:7842019 More...
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RGD:734621, RGD:12879459, RGD:11340200, RGD:11252186, RGD:11252183, RGD:11252182 |
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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G |
Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Menkes kinky-hair syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Cox7b |
cytochrome c oxidase subunit 7B |
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ISO |
ClinVar Annotator: match by term: Menkes kinky-hair syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr X:71,083,486...71,089,733
Ensembl chr X:71,083,456...71,089,732
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Cp |
ceruloplasmin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22243965 |
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NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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G |
Eif2ak3 |
eukaryotic translation initiation factor 2 alpha kinase 3 |
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ISO |
ClinVar Annotator: match by term: Menkes kinky-hair syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
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Lox |
lysyl oxidase |
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ISO ISS |
OMIM:309400 |
MouseDO RGD |
PMID:8638917 |
RGD:1581895 |
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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G |
Magt1 |
magnesium transporter 1 |
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ISO |
ClinVar Annotator: match by term: Menkes kinky-hair syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr X:71,038,489...71,079,704
Ensembl chr X:71,038,489...71,079,699
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Pgk1 |
phosphoglycerate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Menkes kinky-hair syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr X:71,271,454...71,287,429
Ensembl chr X:71,271,440...71,287,418
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Cenpt |
centromere protein T |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:25741868 PMID:28449119 |
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NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
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Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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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 |
Hcfc1 |
host cell factor C1 |
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ISO ISS |
OMIM:309541 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
OMIM MouseDO CTD ClinVar |
PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 PMID:18414213 PMID:23000143 PMID:23539139 PMID:24011988 PMID:25167861 PMID:25281006 PMID:25740848 PMID:25741868 PMID:26893841 PMID:27403441 PMID:28363510 PMID:28449119 PMID:28492532 PMID:28554332 PMID:35013307 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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Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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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 |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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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 |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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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 |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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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 |
Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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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 |
Thap11 |
THAP domain containing 11 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:25741868 PMID:28449119 |
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NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
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G |
Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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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 |
Zc4h2 |
zinc finger C4H2-type containing |
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ISO |
ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 PMID:19377476 PMID:23623388 PMID:25644381 PMID:25741868 PMID:26056227 PMID:28492532 PMID:28814648 PMID:31206972 PMID:32860008 More...
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NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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G |
Ids |
iduronate 2-sulfatase |
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ISO ISS |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form OMIM:309900 CTD Direct Evidence: marker/mechanism DNA:mutations:exon, intron:multiple |
ClinVar MouseDO CTD OMIM RGD |
PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 PMID:1906048 PMID:7581397 PMID:7728156 PMID:7814022 PMID:7866405 PMID:7887413 PMID:8111411 PMID:8318991 PMID:8364592 PMID:8664909 PMID:8807335 PMID:8829647 PMID:8829661 PMID:8830188 PMID:8940265 PMID:9222763 PMID:9266380 PMID:9375851 PMID:9501270 PMID:9536098 PMID:9573369 PMID:9660053 PMID:9762601 PMID:9875019 PMID:9921913 PMID:9950361 PMID:10215411 PMID:10220152 PMID:10671065 PMID:10738003 PMID:10814710 PMID:10838181 PMID:11452244 PMID:11462244 PMID:11683780 PMID:11731225 PMID:12572848 PMID:12794697 PMID:14728992 PMID:15614569 PMID:16133661 PMID:16199547 PMID:16480701 PMID:16495038 PMID:17063374 PMID:17091340 PMID:17284421 PMID:17343270 PMID:17391447 PMID:17576681 PMID:17655837 PMID:18414213 PMID:18500569 PMID:19573456 PMID:20104590 PMID:20301451 PMID:21291454 PMID:21639919 PMID:21829674 PMID:22153556 PMID:22190500 PMID:22286622 PMID:22492741 PMID:22912587 PMID:22976768 PMID:22976778 PMID:22990955 PMID:23430829 PMID:24125893 PMID:24268528 PMID:24454794 PMID:24515576 PMID:24780617 PMID:24875751 PMID:25038527 PMID:25640679 PMID:25681085 PMID:25741868 PMID:25976201 PMID:26407519 PMID:26693516 PMID:26752647 PMID:26762690 PMID:27146977 PMID:27246110 PMID:27351199 PMID:27848944 PMID:27883178 PMID:27896113 PMID:28077157 PMID:28492532 PMID:28543354 PMID:28593992 PMID:29801497 PMID:30409495 PMID:30639582 PMID:30755392 PMID:30809705 PMID:31732130 PMID:31877959 PMID:31895584 PMID:32005694 PMID:32014045 PMID:33075783 PMID:33096603 PMID:33117908 PMID:33124617 PMID:33622387 PMID:33676511 PMID:33960103 PMID:34670126 PMID:34813777 PMID:35005816 PMID:35144014 PMID:35242576 PMID:36945845 PMID:1550586 PMID:27146977 More...
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RGD:1599819, RGD:12910721 |
NCBI chr X:149,025,976...149,046,641
Ensembl chr X:149,025,976...149,046,663
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Idua |
alpha-L-iduronidase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II |
ClinVar |
PMID:25741868 |
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NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
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G |
Sh2d1a |
SH2 domain containing 1A |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:121,373,693...121,401,923
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G |
Stag2 |
STAG2 cohesin complex component |
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ISO |
ClinVar Annotator: match by term: Mullegama-Klein-Martinez syndrome | ClinVar Annotator: match by term: STAG2-related disorder |
OMIM ClinVar |
PMID:25741868 PMID:28296084 PMID:28492532 PMID:29263825 PMID:30158690 PMID:30447054 PMID:30765867 PMID:31334757 PMID:33619735 More...
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NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677
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Slitrk2 |
SLIT and NTRK-like family, member 2 |
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ISO ISS |
OMIM:301107 ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 111 |
OMIM MouseDO ClinVar |
PMID:25741868 PMID:35840571 |
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NCBI chr X:145,246,448...145,259,983
Ensembl chr X:145,246,460...145,271,220
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G |
Acsl4 |
acyl-CoA synthetase long-chain family member 4 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:105,942,794...106,006,573
Ensembl chr X:105,942,799...106,006,427
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G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
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G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
PMID:25741868 |
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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 |
Brwd3 |
bromodomain and WD repeat domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
PMID:28492532 |
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NCBI chr X:73,768,343...73,861,643
Ensembl chr X:73,774,340...73,861,622
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G |
Dlg3 |
discs large MAGUK scaffold protein 3 |
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ISS |
OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 |
MouseDO |
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NCBI chr X:65,859,653...65,911,887
Ensembl chr X:65,860,172...65,910,322
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G |
Fam50a |
family with sequence similarity 50, member A |
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ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
PMID:25741868 |
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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 |
Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
DNA:missense mutation:cds:p.P312L (human) |
RGD |
PMID:11940089 |
RGD:11554032 |
NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO ISS |
DNA:nonsense mutation, missense mutation:cds:p.R70X, p.L92P (human) ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 DNA:missense mutation:cds:p.R423P (human) |
ClinVar MouseDO RGD |
PMID:25741868 PMID:9620768 PMID:9668174 |
RGD:13208823, RGD:13208831 |
NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
PMID:18252223 PMID:19377476 PMID:25741868 PMID:28492532 PMID:29118367 |
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NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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G |
Il1rapl1 |
interleukin 1 receptor accessory protein-like 1 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
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NCBI chr X:51,371,969...52,876,726
Ensembl chr X:51,378,215...52,876,772
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
|
ISS |
OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 |
MouseDO |
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NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
PMID:15351775 PMID:26605526 PMID:27247049 PMID:29618507 PMID:32043567 |
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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 |
Pak3 |
p21 (RAC1) activated kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
|
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NCBI chr X:107,116,308...107,374,342
Ensembl chr X:107,260,898...107,368,314
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G |
Pof1b |
POF1B, actin binding protein |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
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NCBI chr X:77,683,128...77,749,827
Ensembl chr X:77,683,128...77,749,688
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G |
Ptchd1 |
patched domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
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NCBI chr X:39,681,910...39,733,416
Ensembl chr X:39,681,910...39,733,519
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G |
Rlim |
ring finger protein, LIM domain interacting |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
PMID:25735484 PMID:25741868 |
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NCBI chr X:68,983,259...69,004,368
Ensembl chr X:68,988,375...69,004,271
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G |
Zfp711 |
zinc finger protein 711 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
|
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NCBI chr X:77,646,300...77,679,398
Ensembl chr X:77,646,558...77,678,045
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G |
Znf81L |
zinc finger protein 81 like |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
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NCBI chr X:1,030,103...1,126,078
Ensembl chr X:1,036,153...1,126,102
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G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 |
ClinVar |
PMID:26059843 PMID:28492532 |
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NCBI chr X:21,089,142...21,091,603
Ensembl chr X:21,089,122...21,109,488
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G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 |
ClinVar |
PMID:26059843 PMID:28492532 |
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NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9536098 PMID:9628581 PMID:12210308 PMID:15197169 PMID:15669143 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19052029 PMID:19344873 PMID:20473311 PMID:21686261 PMID:23020937 PMID:23674175 PMID:23683030 PMID:23934111 PMID:24306141 PMID:24759409 PMID:25649377 PMID:25741868 PMID:25914188 PMID:26059843 PMID:26467025 PMID:26539891 PMID:26544041 PMID:26633542 PMID:26733290 PMID:26793055 PMID:26795593 PMID:27009485 PMID:27062609 PMID:27369185 PMID:27535533 PMID:27652284 PMID:27665735 PMID:27864847 PMID:28220259 PMID:28295041 PMID:28492532 PMID:28815955 PMID:29026562 PMID:29100083 PMID:29302074 PMID:29322350 PMID:29720203 PMID:30206421 PMID:30328660 PMID:30666632 PMID:30842726 PMID:31415821 PMID:31512412 PMID:32005694 PMID:33368194 PMID:33624935 PMID:33753861 PMID:34906502 More...
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NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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G |
Kdm5c |
lysine demethylase 5C |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 |
ClinVar |
PMID:26059843 PMID:28492532 |
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NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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G |
Mir98 |
microRNA 98 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 |
ClinVar |
PMID:26059843 PMID:28492532 |
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NCBI chr X:20,981,235...20,981,342
Ensembl chr X:20,981,235...20,981,342
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G |
Mirlet7f2 |
microRNA let-7f-2 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 |
ClinVar |
PMID:26059843 PMID:28492532 |
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NCBI chr X:20,980,632...20,980,714
Ensembl chr X:20,980,632...20,980,714
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G |
Ribc1 |
RIB43A domain with coiled-coils 1 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 |
ClinVar |
PMID:26059843 PMID:28492532 |
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NCBI chr X:21,091,717...21,103,688
Ensembl chr X:21,091,717...21,103,200
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G |
Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 |
ClinVar |
PMID:19052029 PMID:23683030 PMID:26059843 PMID:28492532 |
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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G |
Kif4a |
kinesin family member 4A |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, X-linked 100 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:24812067 PMID:25741868 PMID:28492532 PMID:34346154 |
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NCBI chr X:65,721,746...65,824,277
Ensembl chr X:65,721,779...65,824,139
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G |
Mid2 |
midline 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Intellectual disability, X-linked 101 |
OMIM CTD ClinVar |
PMID:24115387 PMID:25741868 |
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NCBI chr X:104,354,692...104,456,757
Ensembl chr X:104,355,316...104,453,473
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G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, X-linked 101 |
ClinVar |
PMID:25741868 |
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NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
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G |
Klhl15 |
kelch-like family member 15 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 |
OMIM CTD ClinVar |
PMID:24817631 PMID:25644381 PMID:25741868 |
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NCBI chr X:58,994,726...59,050,207
Ensembl chr X:58,995,461...59,046,069
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G |
Arhgap6 |
Rho GTPase activating protein 6 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 |
ClinVar |
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NCBI chr X:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663
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G |
Frmpd4 |
FERM and PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: FRMPD4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25644381 PMID:25741868 PMID:26394714 PMID:28492532 PMID:29267967 PMID:29758562 PMID:35887114 More...
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NCBI chr X:25,853,849...26,814,642
Ensembl chr X:25,853,934...26,814,637
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G |
Msl3 |
MSL complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 |
ClinVar |
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NCBI chr X:25,638,029...25,655,698
Ensembl chr X:25,637,804...25,655,697
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G |
Usp27x |
ubiquitin specific peptidase 27, X-linked |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25644381 PMID:25741868 PMID:38182161 |
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NCBI chr X:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912
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G |
Ogt |
O-linked N-acetylglucosamine (GlcNAc) transferase |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 106 | ClinVar Annotator: match by term: Mental retardation, X-linked 106 |
OMIM ClinVar |
PMID:9083067 PMID:12724313 PMID:18818698 PMID:21240259 PMID:24033266 PMID:25679214 PMID:25741868 PMID:26273451 PMID:27056667 PMID:28302723 PMID:28492532 PMID:28584052 PMID:29769320 PMID:31627256 More...
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NCBI chr X:66,771,278...66,816,148
Ensembl chr X:66,771,349...66,816,146
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G |
Steep1 |
STING1 ER exit protein 1 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 107 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 107 |
OMIM ClinVar |
PMID:25741868 PMID:29374277 |
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NCBI chr X:116,087,626...116,114,159
Ensembl chr X:116,060,929...116,114,159
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G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 |
OMIM CTD ClinVar |
PMID:10319851 PMID:11180593 PMID:17100996 PMID:19377476 PMID:25741868 PMID:28492532 More...
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NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
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G |
Il1rapl1 |
interleukin 1 receptor accessory protein-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IL1RAPL1-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21 | ClinVar Annotator: match by term: Mental retardation, X-linked 21/34 |
OMIM CTD ClinVar |
PMID:8230164 PMID:10471494 PMID:16470793 PMID:18801879 PMID:19012350 PMID:21484992 PMID:25741868 PMID:28492532 More...
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NCBI chr X:51,371,969...52,876,726
Ensembl chr X:51,378,215...52,876,772
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G |
Pak3 |
p21 (RAC1) activated kinase 3 |
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ISO ISS |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47 OMIM:300558 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8826460 PMID:9332663 PMID:9731525 PMID:10946356 PMID:12884430 PMID:17853471 PMID:18523455 PMID:25649377 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29246092 PMID:30542205 PMID:31843706 PMID:32050918 More...
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NCBI chr X:107,116,308...107,374,342
Ensembl chr X:107,260,898...107,368,314
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 |
OMIM CTD ClinVar |
PMID:8826463 PMID:9106537 PMID:9620768 PMID:9668174 PMID:25559331 PMID:25741868 PMID:26975778 PMID:28492532 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 |
Znf81L |
zinc finger protein 81 like |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, X-linked 45 |
ClinVar |
PMID:10398246 PMID:15121780 |
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NCBI chr X:1,030,103...1,126,078
Ensembl chr X:1,036,153...1,126,102
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G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, X-linked 46 |
ClinVar |
PMID:11017088 PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
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G |
Syn1 |
synapsin I |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50 |
OMIM CTD ClinVar |
PMID:9415477 PMID:14985377 PMID:21441247 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28973667 PMID:31969655 PMID:36568968 More...
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NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396
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G |
Tspan7 |
tetraspanin 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 |
OMIM CTD ClinVar |
PMID:10655063 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532 |
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NCBI chr X:12,208,783...12,306,092
Ensembl chr X:12,208,783...12,306,131
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G |
Acsl4 |
acyl-CoA synthetase long-chain family member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ACSL4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 68 |
OMIM CTD ClinVar |
PMID:11889465 PMID:12525535 PMID:25741868 |
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NCBI chr X:105,942,794...106,006,573
Ensembl chr X:105,942,799...106,006,427
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G |
Agtr2 |
angiotensin II receptor, type 2 |
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ISO |
ClinVar Annotator: match by term: MRX88 |
ClinVar |
PMID:12089445 PMID:12746399 PMID:14598163 PMID:14722754 PMID:16283672 PMID:18414213 PMID:23871722 More...
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NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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G |
Ftsj1 |
FtsJ RNA 2'-O-methyltransferase 1 |
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ISO ISS |
OMIM:309549 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9 |
OMIM MouseDO CTD ClinVar |
PMID:8288232 PMID:10398246 PMID:15162322 PMID:15342698 PMID:17221867 PMID:25741868 More...
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NCBI chr X:14,243,684...14,256,555
Ensembl chr X:14,244,050...14,252,030
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G |
Dlg3 |
discs large MAGUK scaffold protein 3 |
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ISO |
ClinVar Annotator: match by term: DLG3-Related Disorder | ClinVar Annotator: match by term: DLG3-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15185169 PMID:23020937 PMID:24721225 PMID:25741868 PMID:27222290 PMID:28554332 More...
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NCBI chr X:65,859,653...65,911,887
Ensembl chr X:65,860,172...65,910,322
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G |
Zdhhc15 |
zinc finger DHHC-type palmitoyltransferase 15 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, X-linked 91 |
ClinVar |
PMID:15915161 PMID:25741868 |
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NCBI chr X:69,568,086...69,701,756
Ensembl chr X:69,574,124...69,701,756
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G |
Brwd3 |
bromodomain and WD repeat domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: BRWD3-Related Disorder | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY | ClinVar Annotator: match by term: X-linked intellectual developmental disorder-93 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 PMID:28492532 PMID:30628072 PMID:36414205 PMID:36937954 More...
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NCBI chr X:73,768,343...73,861,643
Ensembl chr X:73,774,340...73,861,622
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G |
Syp |
synaptophysin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96 |
OMIM CTD ClinVar |
PMID:19377476 PMID:23966691 PMID:25741868 |
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NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
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G |
Pof1b |
POF1B, actin binding protein |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 |
ClinVar |
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NCBI chr X:77,683,128...77,749,827
Ensembl chr X:77,683,128...77,749,688
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G |
Zfp711 |
zinc finger protein 711 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 |
OMIM ClinVar |
PMID:10398247 PMID:19377476 PMID:25741868 PMID:27993705 PMID:28454995 PMID:28492532 More...
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NCBI chr X:77,646,300...77,679,398
Ensembl chr X:77,646,558...77,678,045
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G |
Nexmif |
neurite extension and migration factor |
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ISO ISS |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 | ClinVar Annotator: match by term: NEXMIF-related condition OMIM:300912 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:15466006 PMID:23615299 PMID:24307393 PMID:25590979 PMID:25741868 PMID:25900396 PMID:26467025 PMID:26576034 PMID:27358180 PMID:27568816 PMID:28492532 PMID:29693785 PMID:32860008 PMID:33144681 PMID:34008892 PMID:34580403 PMID:35887114 More...
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NCBI chr X:69,088,076...69,219,253
Ensembl chr X:69,088,076...69,112,930
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G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 |
ClinVar |
PMID:25741868 |
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NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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G |
Ntf4 |
neurotrophin 4 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 |
ClinVar |
PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 |
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NCBI chr 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243
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G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 | ClinVar Annotator: match by term: USP9X-related neurodevelopmental disorder |
OMIM CTD ClinVar |
PMID:19377476 PMID:24607389 PMID:25741868 PMID:26833328 PMID:28492532 PMID:31443933 PMID:33298948 More...
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NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
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G |
Arx |
aristaless related homeobox |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87 | ClinVar Annotator: match by term: Mental retardation, X-linked 52 |
OMIM CTD ClinVar |
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12379852 PMID:12640086 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:17331656 PMID:17480217 PMID:17641262 PMID:18414213 PMID:19439424 PMID:19738637 PMID:20300201 PMID:20506206 PMID:21204215 PMID:21204226 PMID:21496008 PMID:25741868 PMID:26029707 PMID:28150386 PMID:28492532 PMID:30255221 PMID:32383243 PMID:32519823 PMID:33847015 More...
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NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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G |
Hs6st2 |
heparan sulfate 6-O-sulfotransferase 2 |
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ISO |
ClinVar Annotator: match by term: Paganini-Miozzo syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30471091 |
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NCBI chr X:130,966,547...131,261,629
Ensembl chr X:130,968,385...131,261,492
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G |
Arx |
aristaless related homeobox |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome DNA:duplication:exon:c.428-451dup (human) |
OMIM CTD ClinVar RGD |
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:17331656 PMID:17480217 PMID:20506206 PMID:21204215 PMID:25741868 PMID:26029707 PMID:28492532 PMID:24528893 More...
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RGD:11565843 |
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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G |
Acox1 |
acyl-CoA oxidase 1 |
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ISO ISS |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy OMIM:264470 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 PMID:16199547 PMID:16773508 PMID:17458872 PMID:17576681 PMID:18536048 PMID:20185470 PMID:24033266 PMID:25326637 PMID:25640679 PMID:25741868 PMID:26965209 PMID:28492532 PMID:30561787 PMID:31130284 PMID:32169171 PMID:33510602 More...
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NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
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G |
Ten1 |
TEN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
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NCBI chr10:101,431,328...101,455,105
Ensembl chr10:101,431,328...101,453,052
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:25741868 |
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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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Acrbp |
acrosin binding protein |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
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G |
Acsm4 |
acyl-CoA synthetase medium-chain family member 4 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341
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G |
Aicda |
activation-induced cytidine deaminase |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Apobec1 |
apolipoprotein B mRNA editing enzyme catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
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G |
Atn1 |
atrophin 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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G |
C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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G |
C1rl |
complement C1r subcomponent like |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
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G |
C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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G |
C3ar1 |
complement C3a receptor 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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G |
Cd163 |
CD163 molecule |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd27 |
CD27 molecule |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
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Cd4 |
Cd4 molecule |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,668,878...157,695,366
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Cdca3 |
cell division cycle associated 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
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G |
Chd4 |
chromodomain helicase DNA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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G |
Clec4a1 |
C-type lectin domain family 4, member A1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008
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G |
Clec4a3 |
C-type lectin domain family 4, member A3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817
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G |
Clec4b2 |
C-type lectin domain family 4, member B2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240
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G |
Clec4d |
C-type lectin domain family 4, member D |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848
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G |
Clec4e |
C-type lectin domain family 4, member E |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
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G |
Clec6a-ps1 |
C-type lectin domain family 6, member A, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605 Ensembl chr 4:156,539,408...156,558,605
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G |
Clstn3 |
calsyntenin 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769
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G |
Cops7a |
COP9 signalosome subunit 7A |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948
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G |
Dppa3 |
developmental pluripotency-associated 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861 Ensembl chr 5:155,815,296...155,854,861
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G |
Emg1 |
EMG1 N1-specific pseudouridine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
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G |
Eno2 |
enolase 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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G |
Fam90a1a |
family with sequence similarity 90 member A1A |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr16:70,098,439...70,106,147
Ensembl chr16:70,098,740...70,101,241
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G |
Foxj2 |
forkhead box J2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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G |
Gdf3 |
growth differentiation factor 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
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G |
Gnb3 |
G protein subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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G |
Gpr162 |
G protein-coupled receptor 162 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,662,200...157,668,341
Ensembl chr 4:157,662,200...157,668,121
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G |
Grcc10 |
gene rich cluster, C10 gene |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,551,276...157,552,924
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G |
Iffo1 |
intermediate filament family orphan 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302
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G |
Ing4 |
inhibitor of growth family, member 4 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265
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G |
Lag3 |
lymphocyte activating 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404
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G |
Lpar5 |
lysophosphatidic acid receptor 5 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,870,493...157,883,979
Ensembl chr 4:157,881,796...157,882,950
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G |
Lpcat3 |
lysophosphatidylcholine acyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880
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G |
Lrrc23 |
leucine rich repeat containing 23 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860
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G |
Ltbr |
lymphotoxin beta receptor |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
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G |
Mfap5 |
microfibril associated protein 5 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458
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G |
Mir141 |
microRNA 141 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
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G |
Mir200c |
microRNA 200c |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,523,679...157,523,747
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G |
Mlf2 |
myeloid leukemia factor 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317
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G |
Mrpl51 |
mitochondrial ribosomal protein L51 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414
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G |
Nanog |
Nanog homeobox |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
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G |
Ncapd2 |
non-SMC condensin I complex, subunit D2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
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G |
Necap1 |
NECAP endocytosis associated 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068
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G |
Nop2 |
NOP2 nucleolar protein |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459
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G |
P3h3 |
prolyl 3-hydroxylase 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7719337 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18712838 PMID:21031596 PMID:25741868 PMID:26220973 PMID:26344566 PMID:27290639 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 More...
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NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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G |
Phb2 |
prohibitin 2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272
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G |
Pianp |
PILR alpha associated neural protein |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842
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G |
Ptms |
parathymosin |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009
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G |
Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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G |
Rimklb |
ribosomal modification protein rimK-like family member B |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,664,392...155,706,888
Ensembl chr 4:155,664,375...155,706,711
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G |
Scnn1a |
sodium channel epithelial 1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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G |
Slc2a3 |
solute carrier family 2 member 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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G |
Spsb2 |
splA/ryanodine receptor domain and SOCS box containing 2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,613,404...157,615,293
Ensembl chr 4:157,613,401...157,615,284
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G |
Tapbpl |
TAP binding protein-like |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,021,454...158,028,905
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tpi1 |
triosephosphate isomerase 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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G |
Usp5 |
ubiquitin specific peptidase 5 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,619,663...157,634,681
Ensembl chr 4:157,619,643...157,634,711
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G |
Vamp1 |
vesicle-associated membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
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G |
Zfp384 |
zinc finger protein 384 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,810,263...157,840,052
Ensembl chr 4:157,810,352...157,839,766
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G |
Nrl |
neural retina leucine zipper |
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ISO |
ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
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G |
Pck2 |
phosphoenolpyruvate carboxykinase 2 (mitochondrial) |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial |
OMIM CTD ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
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G |
Wnk3 |
WNK lysine deficient protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Prieto syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3121220 PMID:26350204 PMID:35678782 |
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NCBI chr X:20,156,260...20,299,252
Ensembl chr X:20,157,041...20,296,821
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G |
Dld |
dihydrolipoamide dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
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G |
Lamb1 |
laminin subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO IMP |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency DNA:mutations: :multiple CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:1293379 PMID:1301207 PMID:1338114 PMID:1779625 PMID:1909778 PMID:2378353 PMID:3034892 PMID:7692352 PMID:7887409 PMID:7981697 PMID:8032855 PMID:8504309 PMID:8598634 PMID:8962591 PMID:9671272 PMID:10679936 PMID:15384102 PMID:15473177 PMID:20002125 PMID:20002461 PMID:20691944 PMID:21846590 PMID:21914562 PMID:23021068 PMID:23871722 PMID:24718837 PMID:25495354 PMID:25590979 PMID:25741868 PMID:26467025 PMID:26865159 PMID:28492532 PMID:28639102 PMID:28918066 PMID:29756269 PMID:32445240 PMID:10679936 PMID:20685142 PMID:20002461 More...
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RGD:731230, RGD:13207454, RGD:13207453 |
NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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G |
Pdhb |
pyruvate dehydrogenase E1 subunit beta |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9536098 PMID:15138885 PMID:17576681 PMID:25741868 PMID:28492532 PMID:15138885 More...
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RGD:1599115 |
NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500
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G |
Pdhx |
pyruvate dehydrogenase complex, component X |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency |
ClinVar |
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NCBI chr 3:89,372,248...89,431,779
Ensembl chr 3:89,371,497...89,431,773
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G |
Pdp1 |
pyruvate dehydrogenase phosphatase catalytic subunit 1 |
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ISO |
Pyruvate dehydrogenase deficiency |
OMIA |
PMID:516334 PMID:552740 PMID:7361423 PMID:15049576 PMID:17095275 |
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NCBI chr 5:25,446,843...25,455,107
Ensembl chr 5:25,446,272...25,455,217
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G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 More...
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NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 More...
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Map3k15 |
mitogen-activated protein kinase kinase kinase 15 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr X:34,713,150...34,859,054
Ensembl chr X:34,713,175...34,858,807
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 PMID:1779625 PMID:1907799 PMID:1909401 PMID:1909778 PMID:2828359 PMID:3034892 PMID:3137520 PMID:7573035 PMID:7692352 PMID:7887409 PMID:7981697 PMID:8024267 PMID:8032855 PMID:8199595 PMID:8504306 PMID:8504309 PMID:8598634 PMID:8771169 PMID:8844217 PMID:8962591 PMID:9266390 PMID:9618178 PMID:9671272 PMID:9686362 PMID:10486093 PMID:10679936 PMID:10767328 PMID:10775534 PMID:11102541 PMID:11241048 PMID:11757583 PMID:12379317 PMID:12551913 PMID:15384102 PMID:15473177 PMID:16199547 PMID:16713755 PMID:16981164 PMID:17043409 PMID:17172462 PMID:18023225 PMID:18197404 PMID:19639391 PMID:20002125 PMID:20002461 PMID:20591708 PMID:20691944 PMID:21735565 PMID:21846590 PMID:21914562 PMID:22142326 PMID:22473288 PMID:23021068 PMID:23871722 PMID:24718837 PMID:25326635 PMID:25356417 PMID:25495354 PMID:25582476 PMID:25590979 PMID:25741868 PMID:25741876 PMID:26467025 PMID:26633542 PMID:26865159 PMID:26987331 PMID:27896109 PMID:28492532 PMID:28584645 PMID:28639102 PMID:28918066 PMID:29756269 PMID:29758562 PMID:29882371 PMID:31673819 PMID:32005694 PMID:32445240 PMID:33204598 More...
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NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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G |
Pdhx |
pyruvate dehydrogenase complex, component X |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:89,372,248...89,431,779
Ensembl chr 3:89,371,497...89,431,773
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G |
Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 More...
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NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466
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G |
Ppef1 |
protein phosphatase with EF-hand domain 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 More...
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NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 More...
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NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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G |
Abhd6 |
abhydrolase domain containing 6, acylglycerol lipase |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr15:16,859,740...16,907,094
Ensembl chr15:16,859,738...16,906,985
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G |
Acox2 |
acyl-CoA oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160
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G |
Appl1 |
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,118,503...2,166,741
Ensembl chr16:2,121,255...2,166,692
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G |
Arf4 |
ADP-ribosylation factor 4 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,896,692...1,913,267
Ensembl chr16:1,896,546...1,913,261
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G |
Asb14 |
ankyrin repeat and SOCS box-containing 14 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,095,567...2,123,259
Ensembl chr16:2,095,644...2,115,135
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G |
Dennd6a |
DENN domain containing 6A |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,837,019...1,885,420
Ensembl chr16:1,837,059...1,885,420
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G |
Dnah12 |
dynein, axonemal, heavy chain 12 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,936,354...2,092,663
Ensembl chr16:1,937,817...2,092,664
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G |
Dnase1l3 |
deoxyribonuclease 1-like 3 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr15:16,922,335...16,948,322
Ensembl chr15:16,922,335...16,948,317
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G |
Flnb |
filamin B |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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G |
Hesx1 |
HESX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957
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G |
Il17rd |
interleukin 17 receptor D |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
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G |
Kctd6 |
potassium channel tetramerization domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr15:16,695,297...16,712,460
Ensembl chr15:16,695,297...16,698,699
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G |
Pde12 |
phosphodiesterase 12 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,920,062...1,925,638
Ensembl chr16:1,915,386...1,925,887
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G |
Pdhb |
pyruvate dehydrogenase E1 subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
OMIM CTD ClinVar |
PMID:9536098 PMID:15138885 PMID:16199547 PMID:17576681 PMID:18164639 PMID:19924563 PMID:21914562 PMID:25356417 PMID:25741868 PMID:26014431 PMID:26865159 PMID:28492532 More...
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NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500
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G |
Pxk |
PX domain containing serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr15:16,759,857...16,828,452
Ensembl chr15:16,759,862...16,828,444
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G |
Rpp14 |
ribonuclease P/MRP subunit p14 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr15:16,837,796...16,847,970
Ensembl chr15:16,836,859...16,852,101 Ensembl chr15:16,836,859...16,852,101
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G |
Slmap |
sarcolemma associated protein |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr16:1,667,205...1,785,200
Ensembl chr16:1,667,208...1,785,149
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G |
Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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G |
Bco2 |
beta-carotene oxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:50,882,174...50,907,676
Ensembl chr 8:50,882,181...50,915,467
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G |
Btg4 |
BTG anti-proliferation factor 4 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
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G |
C8h11orf52 |
similar to human chromosome 11 open reading frame 52 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
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G |
Cfap68 |
cilia and flagella associated protein 68 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
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G |
Cryab |
crystallin, alpha B |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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G |
Dixdc1 |
DIX domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
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G |
Dlat |
dihydrolipoamide S-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16049940 PMID:16199547 PMID:17576681 PMID:20022530 PMID:23021068 PMID:25741868 PMID:28492532 PMID:29093066 More...
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NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
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G |
Fdxacb1 |
ferredoxin-fold anticodon binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
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G |
Hoatz |
HOATZ cilia and flagella associated protein |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
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G |
Hspb2 |
heat shock protein family B (small) member 2 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533
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G |
Il18 |
interleukin 18 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Layn |
layilin |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
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G |
Mir34b |
microRNA 34b |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
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G |
Mir34c |
microRNA 34c |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
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G |
Nkapd1 |
NKAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
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G |
Pih1d2 |
PIH1 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:9536098 PMID:16049940 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
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G |
Pou2af1 |
POU class 2 homeobox associating factor 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
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G |
Pou2af3 |
POU class 2 homeobox associating factor 3 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
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G |
Ppp2r1b |
protein phosphatase 2 scaffold subunit A beta |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
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G |
Pts |
6-pyruvoyl-tetrahydropterin synthase |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869
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G |
Sdhd |
succinate dehydrogenase complex subunit D |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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G |
Sik2 |
salt-inducible kinase 2 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
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G |
Tex12 |
testis expressed 12 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:50,908,161...50,913,202
Ensembl chr 8:50,909,052...50,913,217
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G |
Timm8b |
translocase of inner mitochondrial membrane 8 homolog B |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
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G |
Apip |
APAF1 interacting protein |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency |
ClinVar |
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NCBI chr 3:89,431,964...89,458,000
Ensembl chr 3:89,432,037...89,458,340
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G |
Pdhx |
pyruvate dehydrogenase complex, component X |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency |
OMIM CTD ClinVar |
PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 PMID:12557299 PMID:16566017 PMID:16904023 PMID:17152059 PMID:21914562 PMID:21937992 PMID:25087164 PMID:25326635 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:89,372,248...89,431,779
Ensembl chr 3:89,371,497...89,431,773
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G |
Clcn4 |
chloride voltage-gated channel 4 |
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ISO |
ClinVar Annotator: match by term: CLCN4-related X-linked intellectual disability syndrome | ClinVar Annotator: match by term: CLCN4-related disorder | ClinVar Annotator: match by term: MRX49 | ClinVar Annotator: match by term: RAYNAUD-CLAES SYNDROME CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8826458 PMID:9415477 PMID:9536098 PMID:17576681 PMID:23647072 PMID:25644381 PMID:25741868 PMID:25741869 PMID:26633542 PMID:27550844 PMID:28492532 PMID:29314583 PMID:31452935 PMID:31690835 PMID:31780880 PMID:31785789 PMID:33504798 PMID:33880059 PMID:36385166 More...
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NCBI chr X:23,729,194...23,795,391
Ensembl chr X:23,729,338...23,793,238
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G |
Pqbp1 |
polyglutamine binding protein 1 |
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ISO ISS |
OMIM:309500 ClinVar Annotator: match by term: Renpenning syndrome CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:6711604 PMID:9545405 PMID:13981686 PMID:14634649 PMID:15024694 PMID:15355434 PMID:15782410 PMID:16199547 PMID:16493439 PMID:16740914 PMID:20410308 PMID:20950397 PMID:21267006 PMID:21315190 PMID:21836667 PMID:24088041 PMID:24781215 PMID:25326635 PMID:25741868 PMID:26350204 PMID:26467025 PMID:26633545 PMID:28492532 PMID:30143497 PMID:31230720 PMID:32041777 PMID:32903913 PMID:33668121 PMID:34470565 More...
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NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
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G |
Slc35a2 |
solute carrier family 35 member A2 |
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ISO |
ClinVar Annotator: match by term: Renpenning syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32903913 |
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NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:18710461 |
RGD:5686812 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rett syndrome DNA:missense mutations:cds: |
CTD ClinVar RGD |
PMID:16015284 PMID:18414213 PMID:19241098 PMID:19396824 PMID:25657822 PMID:27779742 PMID:28074849 PMID:28492532 PMID:30266825 PMID:23242510 More...
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RGD:11070543 |
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Dok7 |
docking protein 7 |
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ISO |
ClinVar Annotator: match by term: Rett syndrome |
ClinVar |
PMID:16917026 PMID:18161030 PMID:18626973 PMID:21850686 PMID:22661499 PMID:25741868 PMID:28492532 PMID:31880392 More...
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NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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G |
Egr2 |
early growth response 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19000991 |
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NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
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G |
Foxg1 |
forkhead box G1 |
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ISS ISO |
OMIM:312750 | OMIM:613454 ClinVar Annotator: match by term: Rett syndrome |
MouseDO ClinVar |
PMID:25741868 |
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NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
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G |
Gabbr2 |
gamma-aminobutyric acid type B receptor subunit 2 |
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ISO |
ClinVar Annotator: match by term: Rett syndrome |
ClinVar |
PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 PMID:28590052 PMID:28856709 PMID:29100083 More...
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NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Rett syndrome |
ClinVar |
PMID:15712379 |
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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 |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
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ISO |
protein:increased expression:locus ceruleus |
RGD |
PMID:21307341 |
RGD:8662896 |
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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G |
Map2 |
microtubule-associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Rett syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO ISS IMP |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Rett syndrome OMIM:312750 | OMIM:613454 CTD Direct Evidence: marker/mechanism DNA:deletions:exons, introns, 3' utr:multiple (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:1402105 PMID:2323808 PMID:2460487 PMID:4413922 PMID:5300597 PMID:8166633 PMID:8177735 PMID:9038338 PMID:9377804 PMID:9536098 PMID:9546328 PMID:10508514 PMID:10577905 PMID:10737989 PMID:10745042 PMID:10767337 PMID:10805343 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10986043 PMID:10991688 PMID:10991689 PMID:11005791 PMID:11007980 PMID:11022934 PMID:11035019 PMID:11055848 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11106359 PMID:11180222 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11283201 PMID:11283202 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11331619 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11453972 PMID:11462237 PMID:11469283 PMID:11524737 PMID:11524741 PMID:11738860 PMID:11738862 PMID:11738864 PMID:11738865 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11768391 PMID:11772708 PMID:11805248 PMID:11807877 PMID:11885030 PMID:11896459 PMID:11896461 PMID:11913564 PMID:11913567 PMID:11930274 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12081720 PMID:12081725 PMID:12111643 PMID:12111644 PMID:12161600 PMID:12180070 PMID:12210319 PMID:12325019 PMID:12325033 PMID:12384770 PMID:12418965 PMID:12481990 PMID:12552569 PMID:12555243 PMID:12566531 PMID:12567420 PMID:12615169 PMID:12655490 PMID:12661945 PMID:12673788 PMID:12707062 PMID:12707946 PMID:12719401 PMID:12746405 PMID:12746406 PMID:12750821 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12872251 PMID:12884430 PMID:12966522 PMID:12966523 PMID:14536082 PMID:14560307 PMID:14593183 PMID:14598336 PMID:14649554 PMID:14729826 PMID:14974082 PMID:14986829 PMID:15000811 PMID:15034579 PMID:15057977 PMID:15070486 PMID:15173251 PMID:15211631 PMID:15228575 PMID:15241799 PMID:15287421 PMID:15389714 PMID:15526954 PMID:15557528 PMID:15558314 PMID:15578581 PMID:15675358 PMID:15689438 PMID:15691364 PMID:15712379 PMID:15718369 PMID:15737703 PMID:15841480 PMID:15857422 PMID:15866439 PMID:15875198 PMID:16077729 PMID:16077736 PMID:16080119 PMID:16122633 PMID:16155192 PMID:16182490 PMID:16183801 PMID:16199547 PMID:16225173 PMID:16376510 PMID:16473305 PMID:16629931 PMID:16630165 PMID:16670375 PMID:16672765 PMID:16690727 PMID:16708070 PMID:16763963 PMID:16829352 PMID:16832102 PMID:16844334 PMID:16879196 PMID:16905679 PMID:16965328 PMID:16966553 PMID:17026625 PMID:17084570 PMID:17089071 PMID:17101771 PMID:17142618 PMID:17171659 PMID:17236109 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17370310 PMID:17383248 PMID:17387578 PMID:17420824 PMID:17427193 PMID:17433737 PMID:17440498 PMID:17505203 PMID:17576681 PMID:17881312 PMID:17914728 PMID:17968969 PMID:17986102 PMID:18021529 PMID:18058624 PMID:18174548 PMID:18174559 PMID:18190595 PMID:18313390 PMID:18332345 PMID:18334558 PMID:18337588 PMID:18414213 PMID:18499664 PMID:18562141 PMID:18652533 PMID:18678449 PMID:18688080 PMID:18810657 PMID:18842453 PMID:18989701 PMID:19000991 PMID:19034540 PMID:19133691 PMID:19168818 PMID:19189931 PMID:19190538 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19365833 PMID:19371229 PMID:19442733 PMID:19552836 PMID:19559301 PMID:19573459 PMID:19592282 PMID:19652677 PMID:19722030 PMID:19724012 PMID:19914908 PMID:19921286 PMID:20031356 PMID:20093853 PMID:20098342 PMID:20108430 PMID:20116947 PMID:20142466 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20376788 PMID:20384458 PMID:20479760 PMID:20573179 PMID:20625242 PMID:20631224 PMID:20661168 PMID:20728410 PMID:20815036 PMID:21154482 PMID:21160487 PMID:21178819 PMID:21212452 PMID:21228398 PMID:21300488 PMID:21316312 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21600714 PMID:21695138 PMID:21764336 PMID:21807996 PMID:21812101 PMID:21831886 PMID:21871116 PMID:21878110 PMID:21940684 PMID:21954873 PMID:21966470 PMID:21982064 PMID:22001500 PMID:22106023 PMID:22182064 PMID:22190343 PMID:22213695 PMID:22277191 PMID:22343140 PMID:22368975 PMID:22382802 PMID:22476991 PMID:22497713 PMID:22516699 PMID:22525432 PMID:22532851 PMID:22561697 PMID:22670143 PMID:22923521 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23352163 PMID:23421866 PMID:23452848 PMID:23488948 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23859859 PMID:23866855 PMID:23892605 PMID:23921973 PMID:24033266 PMID:24283265 PMID:24321989 PMID:24328834 PMID:24399845 PMID:24453408 PMID:24508304 PMID:24511209 PMID:24621584 PMID:24626160 PMID:24715477 PMID:24743294 PMID:24776741 PMID:24916645 PMID:24970834 PMID:25124696 PMID:25167861 PMID:25283752 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25541993 PMID:25590979 PMID:25634563 PMID:25741868 PMID:25927341 PMID:26175308 PMID:26214522 PMID:26228846 PMID:26254891 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26490184 PMID:26544843 PMID:26604147 PMID:26647311 PMID:26741492 PMID:26755454 PMID:26795593 PMID:26800272 PMID:26842955 PMID:26931468 PMID:26936630 PMID:26984561 PMID:27159028 PMID:27255190 PMID:27353517 PMID:27354166 PMID:27356039 PMID:27442528 PMID:27465203 PMID:27781091 PMID:27799067 PMID:27824329 PMID:27929079 PMID:28135719 PMID:28250423 PMID:28351539 PMID:28394482 PMID:28397838 PMID:28465761 PMID:28492532 PMID:28498846 PMID:28544139 PMID:28592917 PMID:28785396 PMID:28831199 PMID:28973632 PMID:29046627 PMID:29482495 PMID:29655203 PMID:29718204 PMID:29720203 PMID:29758562 PMID:29961512 PMID:30081849 PMID:30083362 PMID:30405208 PMID:30536762 PMID:30564305 PMID:30569584 PMID:30573328 PMID:30673959 PMID:30842224 PMID:30868116 PMID:30945278 PMID:31138832 PMID:31164858 PMID:31206249 PMID:31439979 PMID:31535341 PMID:31629770 PMID:31645986 PMID:31816669 PMID:31958484 PMID:32105570 PMID:32214227 PMID:32393352 PMID:32472557 PMID:32477112 PMID:32581362 PMID:32860008 PMID:33010341 PMID:34008892 PMID:34324427 PMID:34374989 PMID:34619114 PMID:34837432 PMID:35606502 PMID:36430969 PMID:11214906 PMID:27313794 PMID:18396005 PMID:11242117 PMID:16183801 More...
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RGD:1601319, RGD:11568037, RGD:12790974, RGD:12743654, RGD:1601318 |
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Mecp2em1Sage |
methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs |
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IMP |
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RGD |
PMID:27313794 |
RGD:11568037 |
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G |
Mir199a2 |
microRNA 199a-2 |
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ISS |
OMIM:312750 | OMIM:613454 |
MouseDO |
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NCBI chr13:74,582,954...74,583,063
Ensembl chr13:74,582,954...74,583,063
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G |
Ptpn1 |
protein tyrosine phosphatase, non-receptor type 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214522 |
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NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
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G |
Rhobtb2 |
Rho-related BTB domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Rett syndrome |
ClinVar |
PMID:18298893 PMID:25741868 PMID:28492532 PMID:29276004 |
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NCBI chr15:44,868,251...44,888,436
Ensembl chr15:44,870,376...44,888,651
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G |
Setdb1 |
SET domain bifurcated histone lysine methyltransferase 1 |
severity |
ISO |
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RGD |
PMID:20869373 |
RGD:9590158 |
NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Atypical Rett syndrome |
ClinVar |
PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16199547 PMID:16611748 PMID:16813600 PMID:17993579 PMID:18063413 PMID:18414213 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19428276 PMID:19455595 PMID:19471977 PMID:19740913 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20493745 PMID:21160487 PMID:21293276 PMID:21318334 PMID:21765152 PMID:21770923 PMID:22430159 PMID:22670135 PMID:22670143 PMID:22678952 PMID:22867051 PMID:22872100 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23238081 PMID:23583054 PMID:23934111 PMID:24564546 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26271793 PMID:26467025 PMID:26482601 PMID:26993267 PMID:27599155 PMID:27770071 PMID:27823948 PMID:27848944 PMID:28492532 PMID:29100083 PMID:30182498 PMID:30460546 PMID:31313283 PMID:31487502 PMID:31492455 PMID:31780880 PMID:33436160 More...
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Gphn |
gephyrin |
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ISO |
ClinVar Annotator: match by term: Atypical Rett syndrome |
ClinVar |
PMID:25741868 PMID:33073849 |
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NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Atypical Rett syndrome |
ClinVar |
PMID:10508514 PMID:10854091 PMID:11035019 PMID:11055898 PMID:11269512 PMID:11283202 PMID:11313756 PMID:11524741 PMID:11738883 PMID:12180070 PMID:15737703 PMID:17089071 PMID:17387578 PMID:19914908 PMID:25741868 PMID:25927341 PMID:28492532 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 |
Pals1 |
protein associated with LIN7 1, MAGUK p55 family member |
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ISO |
ClinVar Annotator: match by term: Atypical Rett syndrome |
ClinVar |
PMID:25741868 PMID:33073849 |
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NCBI chr 6:97,548,133...97,654,163
Ensembl chr 6:97,548,630...97,653,305
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Atypical Rett syndrome |
ClinVar |
PMID:19428276 PMID:28492532 |
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NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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G |
Foxg1 |
forkhead box G1 |
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ISO |
ClinVar Annotator: match by term: Rett syndrome, congenital variant CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FOXG1 disorder | ClinVar Annotator: match by term: Rett syndrome, congenital variant |
OMIM ClinVar CTD |
PMID:18414213 PMID:18571142 PMID:19564653 PMID:19578037 PMID:19623215 PMID:19806373 PMID:20734096 PMID:21270142 PMID:21280142 PMID:21441262 PMID:21488007 PMID:21694734 PMID:22091895 PMID:22129046 PMID:22190898 PMID:22258524 PMID:22739344 PMID:22968132 PMID:23757202 PMID:23838309 PMID:24412290 PMID:24731847 PMID:24836831 PMID:24901346 PMID:25326635 PMID:25356899 PMID:25741868 PMID:25914188 PMID:26344814 PMID:26364767 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26938784 PMID:26993267 PMID:27001178 PMID:27029630 PMID:28492532 PMID:28554332 PMID:28628100 PMID:28661489 PMID:28708303 PMID:28781028 PMID:28851325 PMID:28947817 PMID:29389947 PMID:29611406 PMID:29655203 PMID:29852413 PMID:30525188 PMID:30533527 PMID:30792901 PMID:30842224 PMID:30866059 PMID:31199603 PMID:31780880 PMID:32581362 PMID:34284163 PMID:34837432 More...
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NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Rett syndrome, zappella variant |
ClinVar |
PMID:1191367 PMID:4413922 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10852707 PMID:10854091 PMID:10991688 PMID:11035019 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11106359 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11309679 PMID:11313756 PMID:11376998 PMID:11402105 PMID:11462237 PMID:11469283 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11913567 PMID:11960578 PMID:12111643 PMID:12180070 PMID:12325033 PMID:12552569 PMID:12567420 PMID:12673788 PMID:12707946 PMID:12746406 PMID:12770674 PMID:12843318 PMID:12966523 PMID:14560307 PMID:15057977 PMID:15173251 PMID:15389714 PMID:15526954 PMID:15737703 PMID:16122633 PMID:16473305 PMID:16690727 PMID:16763963 PMID:16844334 PMID:17089071 PMID:17101771 PMID:17142618 PMID:17341617 PMID:17387578 PMID:17986102 PMID:18332345 PMID:18414213 PMID:18562141 PMID:18989701 PMID:19652677 PMID:19722030 PMID:19914908 PMID:20031356 PMID:20151026 PMID:20301670 PMID:21160487 PMID:21831886 PMID:21878110 PMID:21954873 PMID:21982064 PMID:22277191 PMID:22368975 PMID:22476991 PMID:22516699 PMID:23260135 PMID:23262346 PMID:23421866 PMID:23696494 PMID:23810759 PMID:23921973 PMID:25741868 PMID:26175308 PMID:26418480 PMID:26467025 PMID:26647311 PMID:26795593 PMID:26842955 PMID:26984561 PMID:27799067 PMID:27929079 PMID:28394482 PMID:28492532 PMID:29655203 PMID:29758562 PMID:30536762 PMID:32472557 PMID:34324427 PMID:34837432 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 |
Clasp1 |
cytoplasmic linker associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Roifman syndrome |
ClinVar |
PMID:10189087 PMID:21474760 PMID:21474761 PMID:21977988 PMID:22581640 PMID:24865609 PMID:25735804 PMID:25741868 PMID:26522830 PMID:27040866 PMID:28492532 PMID:28623346 PMID:28669401 PMID:29165669 PMID:29263834 PMID:29265708 PMID:29391254 PMID:30368667 PMID:30455926 PMID:32109076 PMID:32581362 PMID:32595695 PMID:32628740 PMID:33059947 More...
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NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:23220634 PMID:26930212 PMID:28492532 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: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:23220634 PMID:26930212 PMID:28492532 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 |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 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: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:23220634 PMID:26930212 PMID:28492532 More...
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NCBI chr X:151,633,501...151,636,155
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: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:23220634 PMID:26930212 PMID:28492532 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 |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:22679399 PMID:23220634 PMID:26930212 PMID:28492532 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 |
Emd |
emerin |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:22679399 PMID:23220634 PMID:26930212 PMID:28492532 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 |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 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: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 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: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:22679399 PMID:23220634 PMID:26930212 PMID:28492532 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 |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 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: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 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 |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:22679399 PMID:23220634 PMID:26930212 PMID:28492532 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: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:23220634 PMID:26930212 PMID:28492532 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: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 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 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:10986043 PMID:14560307 PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22476991 PMID:22578097 PMID:22659343 PMID:22679399 PMID:23220634 PMID:26930212 PMID:28492532 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 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:23220634 PMID:26930212 PMID:28492532 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: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 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 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
CTD OMIM ClinVar |
PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:1402105 PMID:2323808 PMID:2460487 PMID:4413922 PMID:5300597 PMID:8177735 PMID:9038338 PMID:9536098 PMID:9546328 PMID:10232754 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10805343 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10986043 PMID:10991688 PMID:10991689 PMID:11005791 PMID:11007980 PMID:11035019 PMID:11055848 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11106359 PMID:11180222 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11283201 PMID:11283202 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11331619 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11453972 PMID:11462237 PMID:11469283 PMID:11524741 PMID:11738860 PMID:11738862 PMID:11738864 PMID:11738865 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11768391 PMID:11772708 PMID:11805248 PMID:11885030 PMID:11896459 PMID:11896461 PMID:11913564 PMID:11913567 PMID:11930274 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12081725 PMID:12111643 PMID:12111644 PMID:12161600 PMID:12180070 PMID:12210319 PMID:12325019 PMID:12325033 PMID:12384770 PMID:12418965 PMID:12552569 PMID:12555243 PMID:12566531 PMID:12567420 PMID:12615169 PMID:12655490 PMID:12661945 PMID:12673788 PMID:12707062 PMID:12707946 PMID:12719401 PMID:12746405 PMID:12746406 PMID:12750821 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12872251 PMID:12884430 PMID:12966523 PMID:14536082 PMID:14560307 PMID:14598336 PMID:14649554 PMID:14729826 PMID:14974082 PMID:14986829 PMID:15000811 PMID:15034579 PMID:15057977 PMID:15070486 PMID:15173251 PMID:15211631 PMID:15228575 PMID:15287421 PMID:15351775 PMID:15389714 PMID:15492925 PMID:15526954 PMID:15557528 PMID:15578581 PMID:15675358 PMID:15689435 PMID:15689438 PMID:15712379 PMID:15718369 PMID:15737703 PMID:15857422 PMID:15866439 PMID:15875198 PMID:16077729 PMID:16077736 PMID:16080119 PMID:16122633 PMID:16155192 PMID:16182490 PMID:16183801 PMID:16199547 PMID:16225173 PMID:16376510 PMID:16473305 PMID:16629931 PMID:16672765 PMID:16690727 PMID:16708070 PMID:16763963 PMID:16832102 PMID:16844334 PMID:16879196 PMID:16905679 PMID:16965328 PMID:17084570 PMID:17088400 PMID:17089071 PMID:17101771 PMID:17142618 PMID:17172942 PMID:17236109 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17370310 PMID:17383248 PMID:17387578 PMID:17420824 PMID:17427193 PMID:17440498 PMID:17505203 PMID:17576681 PMID:17712354 PMID:17881312 PMID:17914728 PMID:17968969 PMID:17986102 PMID:18021529 PMID:18047645 PMID:18058624 PMID:18174548 PMID:18174559 PMID:18190595 PMID:18313390 PMID:18332345 PMID:18334558 PMID:18337588 PMID:18414213 PMID:18477000 PMID:18499664 PMID:18562141 PMID:18572337 PMID:18652533 PMID:18678449 PMID:18810657 PMID:18842453 PMID:18989701 PMID:19034540 PMID:19133691 PMID:19168818 PMID:19189931 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19365833 PMID:19371229 PMID:19442733 PMID:19552836 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19724012 PMID:19914908 PMID:20031356 PMID:20093853 PMID:20098342 PMID:20108430 PMID:20116947 PMID:20142466 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20376788 PMID:20384458 PMID:20479760 PMID:20573179 PMID:20625242 PMID:20631224 PMID:20661168 PMID:20728410 PMID:20815036 PMID:21154482 PMID:21160487 PMID:21178819 PMID:21212452 PMID:21228398 PMID:21300488 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21600714 PMID:21624971 PMID:21695138 PMID:21764336 PMID:21807996 PMID:21831886 PMID:21871116 PMID:21878110 PMID:21940684 PMID:21954873 PMID:21982064 PMID:22106023 PMID:22182064 PMID:22190343 PMID:22213695 PMID:22277191 PMID:22368975 PMID:22382802 PMID:22476991 PMID:22497713 PMID:22516699 PMID:22525432 PMID:22561697 PMID:22578097 PMID:22659343 PMID:22679399 PMID:22923521 PMID:23220634 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23421866 PMID:23452848 PMID:23488948 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23859859 PMID:23921973 PMID:23938294 PMID:24033266 PMID:24283265 PMID:24321989 PMID:24328834 PMID:24399845 PMID:24453408 PMID:24458799 PMID:24508304 PMID:24511209 PMID:24621584 PMID:24626160 PMID:24715477 PMID:24743294 PMID:24776741 PMID:24916645 PMID:24970834 PMID:25124696 PMID:25165434 PMID:25167861 PMID:25283752 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25541993 PMID:25634563 PMID:25640679 PMID:25741868 PMID:25927341 PMID:26175308 PMID:26228846 PMID:26254891 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26490184 PMID:26544843 PMID:26604147 PMID:26647311 PMID:26741492 PMID:26755454 PMID:26795593 PMID:26800272 PMID:26842955 PMID:26852508 PMID:26930212 PMID:26931468 PMID:26936630 PMID:26984561 PMID:27159028 PMID:27171548 PMID:27255190 PMID:27353517 PMID:27354166 PMID:27356039 PMID:27442528 PMID:27465203 PMID:27781091 PMID:27799067 PMID:27824329 PMID:27929079 PMID:28089766 PMID:28135719 PMID:28186668 PMID:28250423 PMID:28351539 PMID:28394409 PMID:28394482 PMID:28465761 PMID:28492532 PMID:28544139 PMID:28785396 PMID:28831199 PMID:28973632 PMID:29046627 PMID:29428920 PMID:29482495 PMID:29655203 PMID:29718204 PMID:29720203 PMID:29758562 PMID:30081849 PMID:30083362 PMID:30405208 PMID:30536762 PMID:30564305 PMID:30569584 PMID:30573328 PMID:30673959 PMID:30868116 PMID:30945278 PMID:31138832 PMID:31164858 PMID:31206249 PMID:31439979 PMID:31535341 PMID:31602196 PMID:31629770 PMID:31816669 PMID:31958484 PMID:32105570 PMID:32214227 PMID:32393352 PMID:32472557 PMID:32477112 PMID:32581362 PMID:32722525 PMID:32860008 PMID:34008892 PMID:34324427 PMID:34619114 PMID:34837432 PMID:35606502 PMID:36430969 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 |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:22679399 PMID:23220634 PMID:26930212 PMID:28492532 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 |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:22679399 PMID:23220634 PMID:26930212 PMID:28492532 More...
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:23220634 PMID:26930212 PMID:28492532 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 |
|
ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 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 |
|
ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:23220634 PMID:26930212 PMID:28492532 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 |
Renbp |
renin binding protein |
|
ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:22679399 PMID:23220634 PMID:26930212 PMID:28492532 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 |
|
ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:22679399 PMID:23220634 PMID:26930212 PMID:28492532 More...
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NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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Slc10a3 |
solute carrier family 10, member 3 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 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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Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:23220634 PMID:26930212 PMID:28492532 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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Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:23220634 PMID:26930212 PMID:28492532 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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Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:23220634 PMID:26930212 PMID:28492532 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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Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:22679399 PMID:23220634 PMID:26930212 PMID:28492532 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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Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:22679399 PMID:23220634 PMID:26930212 PMID:28492532 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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Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:18047645 PMID:22578097 PMID:22659343 PMID:22679399 PMID:23220634 PMID:26930212 PMID:28492532 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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Ubl4a |
ubiquitin-like 4A |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 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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Akap4 |
A-kinase anchoring protein 4 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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NCBI chr X:15,435,391...15,445,684
Ensembl chr X:15,435,410...15,445,684
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Bmp15 |
bone morphogenetic protein 15 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
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Ccnb3 |
cyclin B3 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885
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Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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Dgkk |
diacylglycerol kinase kappa |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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NCBI chr X:15,581,991...15,713,814
Ensembl chr X:15,583,572...15,712,987
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Gspt2 |
G1 to S phase transition 2 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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NCBI chr X:59,587,237...59,589,758
Ensembl chr X:59,587,276...59,594,162
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Maged1 |
MAGE family member D1 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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NCBI chr X:59,422,715...59,429,381
Ensembl chr X:59,422,717...59,429,364
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Mir500 |
microRNA 500 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
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Mir532 |
microRNA 532 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
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Nudt10 |
nudix hydrolase 10 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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Nudt11 |
nudix hydrolase 11 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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NCBI chr X:16,326,775...16,333,396
Ensembl chr X:16,326,598...16,333,145
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Shroom4 |
shroom family member 4 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:12673656 PMID:16249884 PMID:18414213 PMID:23757202 PMID:23871722 PMID:25670966 PMID:25741868 PMID:26740508 PMID:36209347 More...
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NCBI chr X:15,869,065...16,076,850
Ensembl chr X:15,869,065...16,076,869
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Ssx2 |
SSX family member 2 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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NCBI chr X:698,867...715,891
Ensembl chr X:698,882...715,907
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Usp27x |
ubiquitin specific peptidase 27, X-linked |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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NCBI chr X:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912
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Dcx |
doublecortin |
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ISO |
DNA:missense mutation, nonsense mutations:exon:p.R186C (556C>T), p.R272X (814C>T), p.R303X (907C>T) (human) ClinVar Annotator: match by term: Subcortical band heterotopia |
ClinVar RGD |
PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 PMID:10369164 |
RGD:12904717 |
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Eml1 |
EMAP like 1 |
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ISO ISS |
OMIM:600348 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Band heterotopia of brain |
OMIM MouseDO CTD ClinVar |
PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 |
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NCBI chr 6:127,283,968...127,457,246
Ensembl chr 6:127,284,029...127,457,246
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Pafah1b1 |
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Subcortical band heterotopia |
ClinVar |
PMID:1671808 PMID:10441340 PMID:11115846 PMID:11502906 PMID:14581661 PMID:18414213 PMID:25741868 PMID:28492532 PMID:29671837 More...
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NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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Dcx |
doublecortin |
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ISO IMP |
DNA:deletions DNA:nonsense mutation: :p.R186C (971C>T) (human) |
RGD |
PMID:19050731 PMID:9618162 PMID:19098909 |
RGD:12904718, RGD:12904762, RGD:12904725 |
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Bcor |
BCL6 co-repressor |
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ISO |
DNA:missense mutation:exon:254C>T (p.P85L) (human) ClinVar Annotator: match by term: Microphthalmia, syndromic 1 CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:24728327 PMID:25741868 PMID:28492532 PMID:15004558 |
RGD:1600504 |
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microphthalmia, syndromic 1 |
OMIM CTD ClinVar |
PMID:1679229 PMID:11426460 PMID:16114045 PMID:24033266 PMID:24431331 PMID:25741868 PMID:28492532 PMID:30842225 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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Hnrnph1 |
heterogeneous nuclear ribonucleoprotein H1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE |
ClinVar |
PMID:25741868 |
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NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
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G |
Hnrnph2 |
heterogeneous nuclear ribonucleoprotein H2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE |
OMIM CTD ClinVar |
PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:28492532 PMID:29938792 PMID:30887513 PMID:31236915 PMID:31670473 PMID:31943778 PMID:33504798 PMID:33728377 PMID:34008892 PMID:34907471 More...
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NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
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Arx |
aristaless related homeobox |
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ISS |
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MouseDO |
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NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
ClinVar Annotator: match by term: X-linked syndromic intellectual disability |
ClinVar |
PMID:22452838 PMID:25741868 |
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NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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Akap14 |
A-kinase anchoring protein 14 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,395,512...116,410,697
Ensembl chr X:116,395,516...116,410,697
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Atp1b4 |
ATPase Na+/K+ transporting family member beta 4 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:117,087,284...117,108,023
Ensembl chr X:117,057,423...117,108,020
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C1galt1c1 |
C1GALT1-specific chaperone 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:117,378,123...117,382,620
Ensembl chr X:117,375,525...117,382,787
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Cul4b |
cullin 4B |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
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Lamp2 |
lysosomal-associated membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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Mcts1 |
MCTS1, re-initiation and release factor |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:117,350,723...117,362,504
Ensembl chr X:117,350,889...117,362,504
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Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633
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Nkap |
NFKB activating protein |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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Nkrf |
NFKB repressing factor |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,126,341...116,144,554
Ensembl chr X:116,128,798...116,144,628
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Rhox13 |
Rhox homeobox family member 13 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,911,226...116,917,758
Ensembl chr X:116,911,329...116,917,644
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Rhoxf2b |
Rhox homeobox family member 2B |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870
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G |
Rnf113a1 |
ring finger protein 113A1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762
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Rpl39 |
ribosomal protein L39 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,327,216...116,330,211
Ensembl chr18:6,326,330...6,326,692 Ensembl chr X:6,326,330...6,326,692
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Septin6 |
septin 6 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,153,255...116,230,334
Ensembl chr X:116,153,255...116,230,115
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G |
Sowahd |
sosondowah ankyrin repeat domain family member D |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,292,030...116,293,660
Ensembl chr X:116,292,030...116,293,660
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G |
Tmem255a |
transmembrane protein 255A |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008
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G |
Ube2a |
ubiquitin-conjugating enzyme E2A |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,114,339...116,125,076
Ensembl chr X:116,113,875...116,125,070
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G |
Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:17704778 PMID:18414213 PMID:19238151 PMID:22957832 PMID:25741868 PMID:26012578 PMID:26350204 PMID:28492532 PMID:31737052 More...
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NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
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G |
Zbtb33 |
zinc finger and BTB domain containing 33 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:28492532 |
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NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023
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Nono |
non-POU domain containing, octamer-binding |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 PMID:28492532 PMID:31883306 PMID:32238909 More...
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NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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G |
Ap1s2 |
adaptor related protein complex 1 subunit sigma 2 |
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ISO ISS |
OMIM:304340 ClinVar Annotator: match by term: Pettigrew syndrome CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 PMID:17617514 PMID:18414213 PMID:18428203 PMID:23756445 PMID:25741868 PMID:33847015 More...
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NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
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G |
Cul4b |
cullin 4B |
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ISO |
ClinVar Annotator: match by term: Pettigrew syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
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G |
Gria3 |
glutamate ionotropic receptor AMPA type subunit 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GRIA3-Related Disorder | ClinVar Annotator: match by term: GRIA3-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 94 |
OMIM CTD ClinVar |
PMID:17989220 PMID:19022251 PMID:20716669 PMID:24721225 PMID:25326635 PMID:25741868 PMID:25985138 PMID:26467025 PMID:28492532 PMID:28708303 PMID:29016847 PMID:32977175 PMID:35031858 More...
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NCBI chr X:120,238,515...120,504,106
Ensembl chr X:120,238,534...120,504,096
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G |
Akap14 |
A-kinase anchoring protein 14 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,395,512...116,410,697
Ensembl chr X:116,395,516...116,410,697
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G |
Atp1b4 |
ATPase Na+/K+ transporting family member beta 4 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
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NCBI chr X:117,087,284...117,108,023
Ensembl chr X:117,057,423...117,108,020
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G |
C1galt1c1 |
C1GALT1-specific chaperone 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
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NCBI chr X:117,378,123...117,382,620
Ensembl chr X:117,375,525...117,382,787
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G |
Cul4b |
cullin 4B |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CABEZAS SYNDROME | ClinVar Annotator: match by term: CUL4B-Related Disorder | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 | ClinVar Annotator: match by term: Mental retardation with short stature, hypogonadism and abnormal gait, X-linked |
OMIM CTD ClinVar |
PMID:8135271 PMID:10978355 PMID:17236139 PMID:17273978 PMID:18414213 PMID:25385192 PMID:25741868 PMID:26467025 PMID:28330790 PMID:28492532 PMID:28817236 More...
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|
NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
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G |
Dock11 |
dedicator of cytokinesis 11 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:115,131,720...115,314,854
Ensembl chr X:115,131,909...115,314,854
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G |
Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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|
G |
Kiaa1210 |
KIAA1210 homolog |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:115,675,412...115,725,950
Ensembl chr X:115,675,427...115,725,925
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G |
Lamp2 |
lysosomal-associated membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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|
G |
Lonrf3 |
LON peptidase N-terminal domain and ring finger 3 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,565,214...115,603,886
Ensembl chr X:115,565,267...115,598,809
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G |
Mcts1 |
MCTS1, re-initiation and release factor |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:117,350,723...117,362,504
Ensembl chr X:117,350,889...117,362,504
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|
G |
Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633
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|
G |
Nkap |
NFKB activating protein |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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G |
Nkrf |
NFKB repressing factor |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,126,341...116,144,554
Ensembl chr X:116,128,798...116,144,628
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G |
Pgrmc1 |
progesterone receptor membrane component 1 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682
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G |
Rhox13 |
Rhox homeobox family member 13 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,911,226...116,917,758
Ensembl chr X:116,911,329...116,917,644
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G |
Rhoxf2b |
Rhox homeobox family member 2B |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870
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G |
Rnf113a1 |
ring finger protein 113A1 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762
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G |
Rpl39 |
ribosomal protein L39 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,327,216...116,330,211
Ensembl chr18:6,326,330...6,326,692 Ensembl chr X:6,326,330...6,326,692
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|
G |
Septin6 |
septin 6 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,153,255...116,230,334
Ensembl chr X:116,153,255...116,230,115
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G |
Slc25a43 |
solute carrier family 25, member 43 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:115,977,437...116,011,789
Ensembl chr X:115,977,510...116,011,205
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G |
Slc25a5 |
solute carrier family 25 member 5 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,031,896...116,034,963
Ensembl chr X:116,031,803...116,034,967
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G |
Sowahd |
sosondowah ankyrin repeat domain family member D |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,292,030...116,293,660
Ensembl chr X:116,292,030...116,293,660
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|
G |
Steep1 |
STING1 ER exit protein 1 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,087,626...116,114,159
Ensembl chr X:116,060,929...116,114,159
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|
G |
Tmem255a |
transmembrane protein 255A |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008
|
|
G |
Ube2a |
ubiquitin-conjugating enzyme E2A |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,114,339...116,125,076
Ensembl chr X:116,113,875...116,125,070
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|
G |
Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
|
|
G |
Zbtb33 |
zinc finger and BTB domain containing 33 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023
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|
G |
Zcchc12 |
zinc finger CCHC-type containing 12 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692
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|
|
G |
Ddx3x |
DEAD-box helicase 3, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type |
ClinVar |
PMID:2563148 PMID:25741868 PMID:26235985 |
|
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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G |
Kdm5c |
lysine demethylase 5C |
|
ISO ISS |
OMIM:300534 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: KDM5C-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type DNA:snp:cds:c.2T>C (human) |
OMIM MouseDO CTD ClinVar RGD |
PMID:1605217 PMID:10982473 PMID:15586325 PMID:16538222 PMID:16541399 PMID:17244608 PMID:18203167 PMID:18414213 PMID:18697827 PMID:19826449 PMID:21575681 PMID:23356856 PMID:25644381 PMID:25666439 PMID:25666757 PMID:25741868 PMID:25741873 PMID:27959697 PMID:28492532 PMID:28708303 PMID:29304373 PMID:31419599 PMID:32279304 PMID:34356104 PMID:36672956 PMID:22326837 More...
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RGD:9587779 |
NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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|
|
G |
Arx |
aristaless related homeobox |
|
ISO |
DNA:missense mutation:cds:p.P353L (human) |
RGD |
PMID:12177367 PMID:19605412 |
RGD:11565831, RGD:11565840 |
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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G |
Atp6ap2 |
ATPase H+ transporting accessory protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
OMIM CTD ClinVar |
PMID:9536098 PMID:11782983 PMID:15746149 PMID:17576681 PMID:23901204 PMID:25741868 PMID:26235985 PMID:26467025 PMID:26467484 PMID:28492532 PMID:30985297 More...
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|
NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
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|
G |
Bcor |
BCL6 co-repressor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
|
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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|
G |
Cask |
calcium/calmodulin dependent serine protein kinase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
|
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
|
|
G |
Cxhxorf38 |
similar to human chromosome X open reading frame 38 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
|
NCBI chr X:10,128,070...10,150,904
Ensembl chr X:10,129,657...10,150,900
|
|
G |
Ddx3x |
DEAD-box helicase 3, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
|
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
|
|
G |
Gpr34 |
G protein-coupled receptor 34 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
|
NCBI chr X:9,104,829...9,113,796
Ensembl chr X:9,104,565...9,148,601
|
|
G |
Gpr82 |
G protein-coupled receptor 82 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
|
NCBI chr X:9,079,016...9,084,696
Ensembl chr X:9,080,254...9,081,240
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G |
Med14 |
mediator complex subunit 14 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
|
NCBI chr X:10,036,749...10,127,910
Ensembl chr X:10,036,805...10,126,240
|
|
G |
Mpc1l |
mitochondrial pyruvate carrier 1-like |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
|
NCBI chr X:10,146,274...10,147,145
Ensembl chr X:10,146,293...10,147,145
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|
G |
Nyx |
nyctalopin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
|
NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
|
|
G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
|
NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
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|
|
G |
Abcb7 |
ATP binding cassette subfamily B member 7 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 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 |
Ace2 |
angiotensin converting enzyme 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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|
G |
Acot9 |
acyl-CoA thioesterase 9 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:40,073,197...40,123,573
Ensembl chr X:40,064,810...40,123,559
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|
G |
Acsl4 |
acyl-CoA synthetase long-chain family member 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:105,942,794...106,006,573
Ensembl chr X:105,942,799...106,006,427
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|
G |
Actrt1 |
actin-related protein T1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:125,584,102...125,585,455
Ensembl chr X:125,584,065...125,585,457
|
|
G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
|
|
G |
Adgrg4 |
adhesion G protein-coupled receptor G4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449
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|
G |
Aff2 |
ALF transcription elongation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
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|
NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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G |
Agtr2 |
angiotensin II receptor, type 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
|
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G |
Akap14 |
A-kinase anchoring protein 14 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,395,512...116,410,697
Ensembl chr X:116,395,516...116,410,697
|
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G |
Akap4 |
A-kinase anchoring protein 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:15,435,391...15,445,684
Ensembl chr X:15,435,410...15,445,684
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G |
Alas2 |
5'-aminolevulinate synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
|
|
G |
Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:107,906,320...107,968,232
Ensembl chr X:107,885,093...107,942,695
|
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G |
Amer1 |
APC membrane recruitment protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440
|
|
G |
Ammecr1 |
AMMECR nuclear protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:106,465,982...106,571,382
Ensembl chr X:106,466,699...106,571,487
|
|
G |
Amot |
angiomotin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:108,982,399...109,041,265
Ensembl chr X:108,984,022...109,041,272
|
|
G |
Ap1s2 |
adaptor related protein complex 1 subunit sigma 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
|
|
G |
Apex2 |
apurinic/apyrimidinic endodeoxyribonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:19,425,684...19,508,459
Ensembl chr X:19,487,419...19,508,439
|
|
G |
Apln |
apelin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
|
|
G |
Apoo |
apolipoprotein O |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:59,157,971...59,262,940
Ensembl chr X:59,158,049...59,262,940
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|
G |
Apool |
apolipoprotein O-like |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:77,377,723...77,443,672
Ensembl chr X:77,377,781...77,443,900
|
|
G |
Ar |
androgen receptor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
|
|
G |
Araf |
A-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073
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|
G |
Arhgap36 |
Rho GTPase activating protein 36 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:128,780,148...128,787,169
Ensembl chr X:128,751,900...128,787,161
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|
G |
Arhgap4 |
Rho GTPase activating protein 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 PMID:31690835 More...
|
|
NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
|
|
G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
|
|
G |
Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513
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|
G |
Arl13a |
ADP ribosylation factor like GTPase 13A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,380,370...97,406,704
Ensembl chr X:97,380,390...97,406,702
|
|
G |
Armcx1 |
armadillo repeat containing, X-linked 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,898,969...97,902,874
Ensembl chr X:97,898,883...97,903,299
|
|
G |
Armcx2 |
armadillo repeat containing, X-linked 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,980,662...97,985,523
Ensembl chr X:97,980,660...97,985,552
|
|
G |
Armcx3 |
armadillo repeat containing, X-linked 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,937,115...97,942,098
Ensembl chr X:97,936,999...97,942,098
|
|
G |
Armcx4 |
armadillo repeat containing, X-linked 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,860,526...97,870,912
Ensembl chr X:97,860,629...97,870,912
|
|
G |
Armcx5 |
armadillo repeat containing, X-linked 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:98,709,921...98,714,347
Ensembl chr X:98,709,841...98,714,674
|
|
G |
Armcx6 |
armadillo repeat containing, X-linked 6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,929,032...97,932,031
Ensembl chr X:97,929,041...97,931,977
|
|
G |
Arr3 |
arrestin 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:65,699,881...65,712,224
Ensembl chr X:65,698,699...65,712,153
|
|
G |
Arx |
aristaless related homeobox |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
|
|
G |
Asb11 |
ankyrin repeat and SOCS box containing 11 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:30,014,485...30,037,808
Ensembl chr X:29,992,416...30,037,807
|
|
G |
Asb12 |
ankyrin repeat and SOCS box-containing 12 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:60,328,325...60,478,031
Ensembl chr X:60,328,328...60,415,619
|
|
G |
Atg4a |
autophagy related 4A, cysteine peptidase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:104,665,345...104,765,271
Ensembl chr X:104,665,345...104,765,268
|
|
G |
Atp11c |
ATPase phospholipid transporting 11C |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:138,564,459...138,752,116
Ensembl chr X:138,565,836...138,751,204
|
|
G |
Atp1b4 |
ATPase Na+/K+ transporting family member beta 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:117,087,284...117,108,023
Ensembl chr X:117,057,423...117,108,020
|
|
G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
|
|
G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
|
|
G |
Atp6ap2 |
ATPase H+ transporting accessory protein 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
|
|
G |
Atp7a |
ATPase copper transporting alpha |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
|
|
G |
Atrx |
ATRX, chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
|
|
G |
Avpr2 |
arginine vasopressin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 PMID:31690835 More...
|
|
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
|
|
G |
Awat1 |
acyl-CoA wax alcohol acyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:65,668,205...65,674,450
Ensembl chr X:65,668,205...65,674,450
|
|
G |
Awat2 |
acyl-CoA wax alcohol acyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:65,481,676...65,490,562
Ensembl chr X:65,481,929...65,527,625
|
|
G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
|
|
G |
Bclaf3 |
BCLAF1 and THRAP3 family member 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:35,257,228...35,328,883
Ensembl chr X:35,263,576...35,328,816
|
|
G |
Bcor |
BCL6 co-repressor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
|
|
G |
Bcorl1 |
BCL6 co-repressor-like 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
|
|
G |
Bend2 |
BEN domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:33,365,748...33,389,773
|
|
G |
Bex1 |
brain expressed X-linked 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:99,219,014...99,220,518
Ensembl chr X:99,219,014...99,220,958
|
|
G |
Bex2 |
brain expressed X-linked 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:99,019,847...99,021,375
Ensembl chr X:99,019,000...99,021,503
|
|
G |
Bex3 |
brain expressed X-linked 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:99,273,270...99,274,799
Ensembl chr X:99,273,161...99,274,800
|
|
G |
Bex4 |
brain expressed, X-linked 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:99,131,985...99,133,417
Ensembl chr X:99,131,942...99,133,531
|
|
G |
Bgn |
biglycan |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
|
|
G |
Bmp15 |
bone morphogenetic protein 15 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
|
|
G |
Bmx |
BMX non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:30,227,251...30,290,015
Ensembl chr X:30,227,251...30,289,993
|
|
G |
Brs3 |
bombesin receptor subtype 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
|
|
G |
Brwd3 |
bromodomain and WD repeat domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:73,768,343...73,861,643
Ensembl chr X:73,774,340...73,861,622
|
|
G |
Btk |
Bruton tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
|
|
G |
C1galt1c1 |
C1GALT1-specific chaperone 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:117,378,123...117,382,620
Ensembl chr X:117,375,525...117,382,787
|
|
G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
|
|
G |
Capn6 |
calpain 6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:107,380,774...107,405,489
Ensembl chr X:107,380,774...107,405,489
|
|
G |
Car5b |
carbonic anhydrase 5B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:30,474,697...30,534,797
Ensembl chr X:30,474,784...30,533,837
|
|
G |
Cask |
calcium/calmodulin dependent serine protein kinase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
|
|
G |
Ccdc120 |
coiled-coil domain containing 120 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
|
|
G |
Ccdc160 |
coiled-coil domain containing 160 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:132,468,141...132,478,616
Ensembl chr X:132,468,213...132,478,431
|
|
G |
Ccdc22 |
coiled-coil domain containing 22 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
|
|
G |
Ccnb3 |
cyclin B3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885
|
|
G |
Ccnq |
cyclin Q |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
|
|
G |
Cd99l2 |
CD99 molecule-like 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
|
|
G |
Cdk16 |
cyclin-dependent kinase 16 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,492,814...1,504,309
Ensembl chr X:1,492,814...1,504,148
|
|
G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
|
|
G |
Cdr1 |
cerebellar degeneration related 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:139,590,816...139,594,141
|
|
G |
Cdx4 |
caudal type homeo box 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:68,326,874...68,335,461
Ensembl chr X:68,326,874...68,335,461
|
|
G |
Cenpi |
centromere protein I |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,515,919...97,567,671
Ensembl chr X:97,515,972...97,567,657
|
|
G |
Cetn2 |
centrin 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:150,769,944...150,774,833
Ensembl chr X:150,769,953...150,774,919
|
|
G |
Cfap47 |
cilia and flagella associated protein 47 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:43,264,687...43,616,607
Ensembl chr X:43,263,490...43,616,852
|
|
G |
Cfp |
complement factor properdin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573
|
|
G |
Chic1 |
cysteine-rich hydrophobic domain 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:68,362,014...68,406,155
Ensembl chr X:68,361,969...68,437,887
|
|
G |
Chm |
CHM Rab escort protein |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:78,203,200...78,361,996
Ensembl chr X:78,203,204...78,361,943
|
|
G |
Chrdl1 |
chordin-like 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:106,889,125...106,992,937
Ensembl chr X:106,889,125...106,992,921
|
|
G |
Chst7 |
carbohydrate sulfotransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:2,396,260...2,432,828
Ensembl chr X:2,393,874...2,432,840
|
|
G |
Cited1 |
Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:67,350,376...67,355,072
Ensembl chr X:67,350,373...67,355,162
|
|
G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
|
|
G |
Cldn2 |
claudin 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:103,459,870...103,473,794
Ensembl chr X:103,459,780...103,474,838
|
|
G |
Cltrn |
collectrin, amino acid transport regulator |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:30,361,967...30,395,264
Ensembl chr X:30,361,967...30,395,349
|
|
G |
Cnga2 |
cyclic nucleotide gated channel subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:149,696,999...149,715,051
Ensembl chr X:149,696,997...149,715,051
|
|
G |
Cnksr2 |
connector enhancer of kinase suppressor of Ras 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:36,908,135...37,148,337
Ensembl chr X:36,907,850...37,150,555
|
|
G |
Col4a5 |
collagen type IV alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
|
|
G |
Col4a6 |
collagen type IV alpha 6 chain |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:104,766,463...105,117,499
Ensembl chr X:104,766,957...105,117,500
|
|
G |
Cox7b |
cytochrome c oxidase subunit 7B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:71,083,486...71,089,733
Ensembl chr X:71,083,456...71,089,732
|
|
G |
Cpxcr1 |
CPX chromosome region, candidate 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:81,756,909...81,794,661
|
|
G |
Cstf2 |
cleavage stimulation factor subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,253,559...97,279,476
Ensembl chr X:97,253,586...97,279,476
|
|
G |
Ct47b1 |
cancer/testis antigen family 47, member B1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:115,651,472...115,655,191
Ensembl chr X:115,651,482...115,655,188
|
|
G |
Ct55 |
cancer/testis antigen 55 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:133,502,545...133,515,730
Ensembl chr X:133,502,869...133,515,529
|
|
G |
Ctag2 |
cancer/testis antigen 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
|
|
G |
Ctps2 |
CTP synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:31,645,873...31,786,733
Ensembl chr X:31,645,873...31,786,733
|
|
G |
Cul4b |
cullin 4B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
|
|
G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
|
|
G |
Cxhxorf38 |
similar to human chromosome X open reading frame 38 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:10,128,070...10,150,904
Ensembl chr X:10,129,657...10,150,900
|
|
G |
Cxhxorf49 |
similar to human chromosome X open reading frame 49 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:66,911,430...66,915,407
Ensembl chr X:66,911,431...66,915,293
|
|
G |
Cxhxorf58 |
similar to human chromosome X open reading frame 58 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:59,101,854...59,157,948
Ensembl chr X:59,101,845...59,157,865
|
|
G |
Cxhxorf66 |
similar to human chromosome X open reading frame 66 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:138,779,374...138,819,595
Ensembl chr X:138,779,382...138,785,707
|
|
G |
Cybb |
cytochrome b-245 beta chain |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
|
|
G |
Cylc1 |
cylicin 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:76,108,111...76,197,431
Ensembl chr X:76,108,136...76,197,422
|
|
G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
|
|
G |
Dach2 |
dachshund family transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:78,718,963...79,018,023
Ensembl chr X:78,451,593...79,017,592
|
|
G |
Dcaf12l1 |
DDB1 and CUL4 associated factor 12-like 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:123,695,286...123,698,905
Ensembl chr X:123,695,286...123,698,905
|
|
G |
Dcaf12l2 |
DDB1 and CUL4 associated factor 12-like 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:123,293,761...123,296,550
Ensembl chr X:123,294,744...123,296,156
|
|
G |
Dcaf8l1 |
DDB1 and CUL4 associated factor 8-like 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:54,488,494...54,491,514
Ensembl chr X:54,488,781...54,491,141
|
|
G |
Dcx |
doublecortin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
|
|
G |
Ddx3x |
DEAD-box helicase 3, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
|
|
G |
Dgat2l6 |
diacylglycerol O-acyltransferase 2-like 6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:65,614,430...65,637,962
Ensembl chr X:65,614,430...65,637,962
|
|
G |
Dgkk |
diacylglycerol kinase kappa |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:15,581,991...15,713,814
Ensembl chr X:15,583,572...15,712,987
|
|
G |
Diaph2 |
diaphanous-related formin 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:92,395,189...93,234,521
Ensembl chr X:92,395,251...93,229,869
|
|
G |
Dipk2b |
divergent protein kinase domain 2B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:4,205,486...4,274,939
Ensembl chr X:4,205,490...4,271,574
|
|
G |
Dlg3 |
discs large MAGUK scaffold protein 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:65,859,653...65,911,887
Ensembl chr X:65,860,172...65,910,322
|
|
G |
Dmd |
dystrophin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
|
|
G |
Dmrtc1a |
DMRT-like family C1a |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:67,822,187...67,852,572
Ensembl chr X:67,822,113...67,852,571
|
|
G |
Dmrtc1c1 |
DMRT-like family C1c1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:67,896,973...67,904,182
Ensembl chr X:67,896,974...67,904,182
|
|
G |
Dnaaf6 |
dynein axonemal assembly factor 6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:103,724,419...103,775,633
Ensembl chr X:103,731,857...103,775,629
|
|
G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
|
|
G |
Dock11 |
dedicator of cytokinesis 11 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:115,131,720...115,314,854
Ensembl chr X:115,131,909...115,314,854
|
|
G |
Drp2 |
dystrophin related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684
|
|
G |
Dusp21 |
dual specificity phosphatase 21 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:4,488,021...4,488,877
Ensembl chr X:4,488,021...4,488,877
|
|
G |
Dusp9 |
dual specificity phosphatase 9 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
|
|
G |
Dynlt3 |
dynein light chain Tctex-type 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:13,327,933...13,337,139
Ensembl chr X:13,327,892...13,337,139
|
|
G |
Ebp |
EBP, cholestenol delta-isomerase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
|
|
G |
Eda |
ectodysplasin-A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
|
|
G |
Eda2r |
ectodysplasin A2 receptor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:62,224,763...62,269,333
Ensembl chr X:62,228,229...62,269,268
|
|
G |
Efhc2 |
EF-hand domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:5,360,499...5,564,004
Ensembl chr X:5,360,617...5,560,970
|
|
G |
Efnb1 |
ephrin B1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:64,257,351...64,270,158
Ensembl chr X:64,257,351...64,270,157
|
|
G |
Eif1ax |
eukaryotic translation initiation factor 1A, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
|
|
G |
Eif2s3 |
eukaryotic translation initiation factor 2 subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:58,916,513...58,939,923
Ensembl chr X:58,917,490...58,940,686
|
|
G |
Elf4 |
E74 like ETS transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,587,401...127,639,063
Ensembl chr X:127,590,650...127,630,200
|
|
G |
Elk1 |
ETS transcription factor ELK1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713
|
|
G |
Emd |
emerin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
|
|
G |
Enox2 |
ecto-NOX disulfide-thiol exchanger 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:128,270,941...128,593,074
Ensembl chr X:128,271,074...128,593,039
|
|
G |
Eola2 |
endothelium and lymphocyte associated ASCH domain 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:149,064,015...149,068,627
Ensembl chr X:149,064,041...149,068,627
|
|
G |
Eras |
ES cell expressed Ras |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374
|
|
G |
Ercc6l |
ERCC excision repair 6 like, spindle assembly checkpoint helicase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:67,245,414...67,261,222
Ensembl chr X:67,245,414...67,280,756
|
|
G |
Esx1 |
ESX homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:100,449,298...100,454,452
|
|
G |
F9 |
coagulation factor IX |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:138,352,334...138,396,835
Ensembl chr X:138,352,298...138,396,835
|
|
G |
Fam120c |
family with sequence similarity 120 member C |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:20,324,046...20,477,831
Ensembl chr X:20,323,381...20,477,275
|
|
G |
Fam133a |
family with sequence similarity 133, member A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
|
|
G |
Fam199x |
family with sequence similarity 199, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:100,384,230...100,419,935
Ensembl chr X:100,384,225...100,414,938
|
|
G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
|
|
G |
Fam47a |
family with sequence similarity 47, member A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:42,762,231...42,763,887
Ensembl chr X:42,762,229...42,763,883
|
|
G |
Fam50a |
family with sequence similarity 50, member A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
|
|
G |
Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566
|
|
G |
Fgf13 |
fibroblast growth factor 13 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:137,276,498...137,800,056
Ensembl chr X:137,276,511...137,800,391
|
|
G |
Fgf16 |
fibroblast growth factor 16 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:70,816,658...70,828,028
Ensembl chr X:70,817,433...70,878,717
|
|
G |
Fhl1 |
four and a half LIM domains 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
|
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G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
|
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G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
|
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G |
Fmr1nb |
FMR1 neighbor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:147,309,613...147,332,426
Ensembl chr X:147,309,663...147,332,418
|
|
G |
Foxo4 |
forkhead box O4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115
|
|
G |
Foxp3 |
forkhead box P3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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|
G |
Foxr2 |
forkhead box R2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:18,242,420...18,276,095
Ensembl chr X:18,244,255...18,245,163
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|
G |
Frmd7 |
FERM domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:130,375,925...130,423,836
Ensembl chr X:130,377,227...130,423,771
|
|
G |
Frmpd3 |
FERM and PDZ domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:103,964,168...104,113,864
Ensembl chr X:104,043,194...104,111,968
|
|
G |
Fthl17a |
ferritin, heavy polypeptide-like 17, member A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:49,595,422...49,596,399
Ensembl chr X:49,595,718...49,596,266
|
|
G |
Ftsj1 |
FtsJ RNA 2'-O-methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,243,684...14,256,555
Ensembl chr X:14,244,050...14,252,030
|
|
G |
Ftx |
FTX transcript, XIST regulator |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:68,588,349...68,630,338
|
|
G |
Fundc1 |
FUN14 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:5,083,635...5,100,293
Ensembl chr X:5,083,617...5,100,284
|
|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
|
|
G |
Gabra3 |
gamma-aminobutyric acid type A receptor subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:150,244,745...150,501,566
Ensembl chr X:150,261,607...150,501,559
|
|
G |
Gabre |
gamma-aminobutyric acid type A receptor subunit epsilon |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:150,060,035...150,078,773
Ensembl chr X:150,060,040...150,078,693
|
|
G |
Gabrq |
gamma-aminobutyric acid type A receptor subunit theta |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:150,696,161...150,712,948
Ensembl chr X:150,696,427...150,709,919
|
|
G |
Gata1 |
GATA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
|
|
G |
Gdi1 |
GDP dissociation inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
|
|
G |
Gdpd2 |
glycerophosphodiester phosphodiesterase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:65,826,273...65,835,361
Ensembl chr X:65,826,574...65,835,361
|
|
G |
Gjb1 |
gap junction protein, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
|
|
G |
Gk |
glycerol kinase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:50,162,089...50,238,707
Ensembl chr X:50,163,123...50,238,631
|
|
G |
Gla |
galactosidase, alpha |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
|
|
G |
Glod5 |
glyoxalase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
|
|
G |
Gnl3l |
G protein nucleolar 3 like |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:19,961,277...19,994,454
Ensembl chr X:19,958,603...19,994,508
|
|
G |
Gpc3 |
glypican 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798
|
|
G |
Gpc4 |
glypican 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:131,644,711...131,755,349
Ensembl chr X:131,644,704...131,755,284
|
|
G |
Gpkow |
G patch domain and KOW motifs |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
|
|
G |
Gpr101 |
G protein-coupled receptor 101 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
|
|
G |
Gpr119 |
G protein-coupled receptor 119 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,852,145...127,858,198
Ensembl chr X:127,852,145...127,858,198
|
|
G |
Gpr173 |
G-protein coupled receptor 173 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:21,446,261...21,471,119
Ensembl chr X:21,447,361...21,471,498
|
|
G |
Gpr174 |
G protein-coupled receptor 174 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:72,355,452...72,396,146
Ensembl chr X:72,355,033...72,397,658
|
|
G |
Gpr34 |
G protein-coupled receptor 34 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:9,104,829...9,113,796
Ensembl chr X:9,104,565...9,148,601
|
|
G |
Gpr50 |
G protein-coupled receptor 50 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:149,368,900...149,373,486
Ensembl chr X:149,368,900...149,373,486
|
|
G |
Gpr82 |
G protein-coupled receptor 82 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:9,079,016...9,084,696
Ensembl chr X:9,080,254...9,081,240
|
|
G |
Gprasp1 |
G protein-coupled receptor associated sorting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:98,764,853...98,772,685
Ensembl chr X:98,709,841...98,772,851
|
|
G |
Gprasp2 |
G protein-coupled receptor associated sorting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:98,817,668...98,823,814
Ensembl chr X:98,817,593...98,824,402
|
|
G |
Gprasp3 |
G protein-coupled receptor associated sorting protein family member 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:98,847,591...98,854,949
Ensembl chr X:98,817,593...98,854,545
|
|
G |
Gria3 |
glutamate ionotropic receptor AMPA type subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:120,238,515...120,504,106
Ensembl chr X:120,238,534...120,504,096
|
|
G |
Gripap1 |
GRIP1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679
|
|
G |
Grpr |
gastrin releasing peptide receptor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:30,998,425...31,038,442
Ensembl chr X:30,998,416...31,038,442
|
|
G |
Gspt2 |
G1 to S phase transition 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:59,587,237...59,589,758
Ensembl chr X:59,587,276...59,594,162
|
|
G |
Gucy2f |
guanylate cyclase 2F |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:105,710,356...105,808,183
Ensembl chr X:105,710,356...105,808,183
|
|
G |
H2ap |
H2A.P histone |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:12,907,962...12,908,516
|
|
G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
|
|
G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 PMID:31690835 More...
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|
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
|
|
G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
|
|
G |
Hdac8 |
histone deacetylase 8 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
|
|
G |
Hdx |
highly divergent homeobox |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:76,552,539...76,697,177
Ensembl chr X:76,560,665...76,869,972
|
|
G |
Heph |
hephaestin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:61,151,131...61,402,980
Ensembl chr X:61,296,345...61,402,980
|
|
G |
Hmgb3 |
high mobility group box 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:149,296,303...149,301,290
Ensembl chr X:149,296,375...149,301,292
|
|
G |
Hmgn5 |
high mobility group nucleosome binding domain 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:74,085,871...74,094,488
Ensembl chr X:74,085,875...74,094,441
|
|
G |
Hnrnph2 |
heterogeneous nuclear ribonucleoprotein H2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
|
|
G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:132,736,175...132,768,149
Ensembl chr X:132,736,096...132,768,154
|
|
G |
Hs6st2 |
heparan sulfate 6-O-sulfotransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:130,966,547...131,261,629
Ensembl chr X:130,968,385...131,261,492
|
|
G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:21,089,142...21,091,603
Ensembl chr X:21,089,122...21,109,488
|
|
G |
Hsfx3l |
heat shock transcription factor family, X-linked member 3 like |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:146,126,163...146,128,629
|
|
G |
Htatsf1 |
HIV-1 Tat specific factor 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
|
|
G |
Htr2c |
5-hydroxytryptamine receptor 2C |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:110,640,777...110,870,288
Ensembl chr X:110,641,153...110,870,287
|
|
G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
|
|
G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
|
|
G |
Ids |
iduronate 2-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:149,025,976...149,046,641
Ensembl chr X:149,025,976...149,046,663
|
|
G |
Igbp1 |
immunoglobulin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:65,582,832...65,605,078
Ensembl chr X:65,582,821...65,606,049
|
|
G |
Igsf1 |
immunoglobulin superfamily, member 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:129,069,891...129,085,331
Ensembl chr X:129,069,896...129,085,139
|
|
G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 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 |
Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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G |
Il1rapl1 |
interleukin 1 receptor accessory protein-like 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:51,371,969...52,876,726
Ensembl chr X:51,378,215...52,876,772
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G |
Il1rapl2 |
interleukin 1 receptor accessory protein-like 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:100,961,509...102,271,753
Ensembl chr X:100,961,812...102,271,753
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G |
Il2rg |
interleukin 2 receptor subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823
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G |
Ints6l |
integrator complex subunit 6 like |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:134,258,117...134,325,706
Ensembl chr X:134,258,125...134,309,617
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 PMID:31690835 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 |
Irs4 |
insulin receptor substrate 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:105,344,020...105,360,004
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G |
Itgb1bp2 |
integrin subunit beta 1 binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:66,572,537...66,577,174
Ensembl chr X:66,572,537...66,577,174
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G |
Itih6 |
inter-alpha-trypsin inhibitor heavy chain family member 6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:19,753,322...19,790,381
Ensembl chr X:19,753,625...19,789,500
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G |
Itm2a |
integral membrane protein 2A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:72,486,383...72,492,344
Ensembl chr X:72,486,381...72,492,363
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G |
Jade3 |
jade family PHD finger 3 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:1,668,873...1,848,781
Ensembl chr X:1,669,930...1,845,138
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G |
Jpx |
JPX transcript, XIST activator |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:68,511,491...68,665,132
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G |
Kcnd1 |
potassium voltage-gated channel subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233
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G |
Kcne5 |
potassium voltage-gated channel subfamily E regulatory subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:105,930,398...105,931,013
Ensembl chr X:105,930,398...105,931,013
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G |
Kdm5c |
lysine demethylase 5C |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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G |
Kdm6a |
lysine demethylase 6A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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G |
Kiaa1210 |
KIAA1210 homolog |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:115,675,412...115,725,950
Ensembl chr X:115,675,427...115,725,925
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G |
Kif4a |
kinesin family member 4A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:65,721,746...65,824,277
Ensembl chr X:65,721,779...65,824,139
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G |
Klf8 |
KLF transcription factor 8 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:17,950,045...18,132,980
Ensembl chr X:17,958,843...18,133,182
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G |
Klhl13 |
kelch-like family member 13 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:113,942,309...114,107,299
Ensembl chr X:113,942,309...114,107,321
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G |
Klhl15 |
kelch-like family member 15 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:58,994,726...59,050,207
Ensembl chr X:58,995,461...59,046,069
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G |
Klhl34 |
kelch-like family member 34 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:37,151,298...37,154,053
Ensembl chr X:37,151,592...37,153,529
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G |
Klhl4 |
kelch-like family member 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:79,429,193...79,719,482
Ensembl chr X:79,622,113...79,719,480
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G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 PMID:31690835 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 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 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 |
Lamp2 |
lysosomal-associated membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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G |
Lancl3 |
LanC like family member 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:13,478,499...13,609,934
Ensembl chr X:13,480,311...13,609,678
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G |
Las1l |
LAS1-like, ribosome biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:60,851,969...60,873,717
Ensembl chr X:60,851,962...60,873,687
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G |
Ldoc1 |
LDOC1, regulator of NFKB signaling |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
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NCBI chr X:139,965,509...140,074,355
Ensembl chr X:139,965,509...140,074,355
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G |
Lhfpl1 |
LHFPL tetraspan subfamily member 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:108,815,596...108,873,460
Ensembl chr X:108,815,596...108,873,460
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G |
LOC100912195 |
protein BEX1-like |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:110,047,861...110,051,812
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G |
LOC120099525 |
small nucleolar RNA SNORA11 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:19,735,030...19,735,144
Ensembl chr X:19,735,030...19,735,144
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G |
Lonrf3 |
LON peptidase N-terminal domain and ring finger 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:115,565,214...115,603,886
Ensembl chr X:115,565,267...115,598,809
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G |
Lpar4 |
lysophosphatidic acid receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:72,033,486...72,046,978
Ensembl chr X:72,033,486...72,046,977
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G |
Lrch2 |
leucine rich repeats and calponin homology domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:111,091,728...111,174,225
Ensembl chr X:111,092,814...111,174,210
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G |
Luzp4 |
leucine zipper protein 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:111,280,490...111,321,363
Ensembl chr X:111,280,549...111,321,359
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G |
Magea10 |
MAGE family member A10 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
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NCBI chr X:150,212,708...150,217,954
Ensembl chr X:150,213,245...150,214,213
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G |
Magea9 |
MAGE family member A9 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
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NCBI chr X:142,619,282...142,624,654
Ensembl chr X:142,619,395...142,624,653
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G |
Mageb1 |
MAGE family member B1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:50,915,789...50,921,863
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G |
Mageb10 |
MAGE family member B10 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:202,810,079...202,811,086
Ensembl chr 1:202,810,179...202,811,167
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G |
Mageb16 |
MAGE family member B16 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:43,693,205...43,725,664
Ensembl chr X:43,693,211...43,725,657
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G |
Mageb18 |
MAGE family member B18 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:56,885,991...56,888,245
Ensembl chr X:56,885,991...56,888,245
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G |
Mageb2 |
MAGE family member B2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:50,827,538...50,833,272
Ensembl chr X:50,827,563...50,833,151
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G |
Mageb3 |
MAGE family member B3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:50,865,484...50,866,479
Ensembl chr X:50,865,484...50,866,479
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G |
Mageb5 |
MAGE family member B5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:56,478,928...56,495,736
Ensembl chr X:56,478,948...56,496,921
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G |
Mageb6 |
MAGE family member B6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:56,493,231...56,494,699
Ensembl chr X:56,492,713...56,494,541
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G |
Magec2 |
MAGE family member C2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
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NCBI chr X:140,610,610...140,615,484
Ensembl chr X:140,606,825...140,615,471
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G |
Maged1 |
MAGE family member D1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:59,422,715...59,429,381
Ensembl chr X:59,422,717...59,429,364
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G |
Maged2 |
MAGE family member D2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:19,733,593...19,741,769
Ensembl chr X:19,733,597...19,740,477
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G |
Magee1 |
MAGE family member E1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:70,189,242...70,192,789
Ensembl chr X:70,189,187...70,192,810
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G |
Magee2 |
MAGE family member E2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:69,885,751...69,944,824
Ensembl chr X:69,942,533...69,944,657
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G |
Mageh1 |
MAGE family member H1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:18,350,015...18,351,271
Ensembl chr X:18,349,774...18,351,516
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G |
Magix |
MAGI family member, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045
|
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G |
Magt1 |
magnesium transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:71,038,489...71,079,704
Ensembl chr X:71,038,489...71,079,699
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G |
Maoa |
monoamine oxidase A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
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G |
Maob |
monoamine oxidase B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:5,907,327...6,010,996
Ensembl chr X:5,907,266...6,011,003
|
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G |
Map3k15 |
mitogen-activated protein kinase kinase kinase 15 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:34,713,150...34,859,054
Ensembl chr X:34,713,175...34,858,807
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G |
Map7d2 |
MAP7 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:35,372,453...35,488,073
Ensembl chr X:35,372,700...35,488,091
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G |
Map7d3 |
MAP7 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
|
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G |
Mbnl3 |
muscleblind-like splicing regulator 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:130,641,942...130,737,179
Ensembl chr X:130,648,538...130,737,056
|
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G |
Mbtps2 |
membrane-bound transcription factor peptidase, site 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:37,410,914...37,461,130
Ensembl chr X:37,410,811...37,464,430
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G |
Mcf2 |
MCF.2 cell line derived transforming sequence |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:138,414,077...138,514,828
Ensembl chr X:138,409,256...138,514,446
|
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G |
Mcts1 |
MCTS1, re-initiation and release factor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:117,350,723...117,362,504
Ensembl chr X:117,350,889...117,362,504
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G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE | ClinVar Annotator: match by term: MECP2 duplication syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, Lubs type | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
CTD OMIM ClinVar |
PMID:1057790 PMID:1105898 PMID:1241840 PMID:2323808 PMID:8177735 PMID:9536098 PMID:9546328 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11106359 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11462237 PMID:11469283 PMID:11524741 PMID:11738860 PMID:11738864 PMID:11738865 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11772708 PMID:11805248 PMID:11885030 PMID:11896459 PMID:11896461 PMID:11913567 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12081725 PMID:12111643 PMID:12111644 PMID:12180070 PMID:12210319 PMID:12325019 PMID:12325033 PMID:12384770 PMID:12418965 PMID:12567420 PMID:12719401 PMID:12746405 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12966523 PMID:14560307 PMID:14598336 PMID:14649554 PMID:14729826 PMID:15057977 PMID:15173251 PMID:15211631 PMID:15287421 PMID:15389714 PMID:15526954 PMID:15557528 PMID:15578581 PMID:15737703 PMID:15866439 PMID:16077729 PMID:16183801 PMID:16376510 PMID:16473305 PMID:16629931 PMID:16672765 PMID:16690727 PMID:16763963 PMID:16832102 PMID:16844334 PMID:16879196 PMID:16905679 PMID:17084570 PMID:17089071 PMID:17236109 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17383248 PMID:17387578 PMID:17420824 PMID:17427193 PMID:17576681 PMID:17881312 PMID:17914728 PMID:17986102 PMID:18174548 PMID:18174559 PMID:18332345 PMID:18337588 PMID:18414213 PMID:18499664 PMID:18989701 PMID:19133691 PMID:19168818 PMID:19189931 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19442733 PMID:19552836 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19914908 PMID:20031356 PMID:20093853 PMID:20116947 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20479760 PMID:20625242 PMID:20631224 PMID:20661168 PMID:20815036 PMID:21160487 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21764336 PMID:21831886 PMID:21954873 PMID:21982064 PMID:22277191 PMID:22476991 PMID:22497713 PMID:22516699 PMID:22525432 PMID:22679399 PMID:23238081 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23421866 PMID:23452848 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23921973 PMID:24033266 PMID:24328834 PMID:24399845 PMID:24511209 PMID:24621584 PMID:24916645 PMID:24970834 PMID:25167861 PMID:25283752 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25634563 PMID:25741868 PMID:26175308 PMID:26347316 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26604147 PMID:26647311 PMID:26741492 PMID:26800272 PMID:26984561 PMID:27159028 PMID:27247049 PMID:27255190 PMID:27353517 PMID:27442528 PMID:27465203 PMID:27761913 PMID:27781091 PMID:27799067 PMID:27929079 PMID:28089766 PMID:28135719 PMID:28257338 PMID:28351539 PMID:28394482 PMID:28465761 PMID:28492532 PMID:28785396 PMID:28831199 PMID:29046627 PMID:29141583 PMID:29655203 PMID:30081849 PMID:30405208 PMID:30536762 PMID:30564305 PMID:30788845 PMID:30868116 PMID:30945278 PMID:31138832 PMID:31535341 PMID:31690835 PMID:32393352 PMID:32477112 PMID:32581362 PMID:32860008 PMID:34837432 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 |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Med14 |
mediator complex subunit 14 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:10,036,749...10,127,910
Ensembl chr X:10,036,805...10,126,240
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G |
Mid1ip1 |
MID1 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:12,060,993...12,063,318
Ensembl chr X:12,060,883...12,065,774
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G |
Mid2 |
midline 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:104,354,692...104,456,757
Ensembl chr X:104,355,316...104,453,473
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G |
Mir105 |
microRNA 105 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
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NCBI chr X:150,438,529...150,438,601
Ensembl chr X:150,438,529...150,438,601
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G |
Mir106a |
microRNA 106a |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:132,422,584...132,422,661
Ensembl chr X:132,422,584...132,422,661
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G |
Mir19b2 |
microRNA 19b-2 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:132,422,072...132,422,167
Ensembl chr X:132,422,072...132,422,167
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G |
Mir221 |
microRNA 221 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
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G |
Mir222 |
microRNA 222 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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G |
Mir223 |
microRNA 223 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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G |
Mir224 |
microRNA 224 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
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NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169
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G |
Mir322 |
microRNA 322 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:132,806,594...132,806,688
Ensembl chr X:132,806,594...132,806,688
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G |
Mir3585 |
microRNA 3585 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
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NCBI chr X:146,662,031...146,662,148
Ensembl chr X:146,662,031...146,662,148
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G |
Mir448 |
microRNA 448 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:110,829,918...110,830,029
Ensembl chr X:110,829,918...110,830,029
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G |
Mir500 |
microRNA 500 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
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G |
Mir503 |
microRNA 503 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:132,806,303...132,806,373
Ensembl chr X:132,806,303...132,806,373
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G |
Mir509 |
microRNA 509 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
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NCBI chr X:146,688,132...146,688,216
Ensembl chr X:146,688,132...146,688,216
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G |
Mir532 |
microRNA 532 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
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G |
Mir98 |
microRNA 98 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:20,981,235...20,981,342
Ensembl chr X:20,981,235...20,981,342
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G |
Mirlet7f2 |
microRNA let-7f-2 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:20,980,632...20,980,714
Ensembl chr X:20,980,632...20,980,714
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G |
Mmgt1 |
membrane magnesium transporter 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:134,408,463...134,420,798
Ensembl chr X:134,408,466...134,420,729
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G |
Morc4 |
MORC family CW-type zinc finger 4 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:103,477,366...103,529,026
Ensembl chr X:103,480,603...103,528,956
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G |
Morf4l2 |
mortality factor 4 like 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:100,082,562...100,093,658
Ensembl chr X:100,082,404...100,093,728
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G |
Mospd1 |
motile sperm domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:133,100,200...133,127,960
Ensembl chr X:133,100,422...133,127,908 Ensembl chr 1:133,100,422...133,127,908
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G |
Mpc1l |
mitochondrial pyruvate carrier 1-like |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:10,146,274...10,147,145
Ensembl chr X:10,146,293...10,147,145
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G |
Msn |
moesin |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:60,996,043...61,064,011
Ensembl chr X:60,995,951...61,065,628
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G |
Mtm1 |
myotubularin 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
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NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860
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G |
Mtmr1 |
myotubularin related protein 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
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NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 PMID:31690835 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 |
Nalf2 |
NALCN channel auxiliary factor 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:64,925,100...64,951,074
Ensembl chr X:64,925,051...64,951,077
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G |
Nap1l2 |
nucleosome assembly protein 1-like 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:68,174,051...68,176,449
Ensembl chr X:68,173,987...68,176,666
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G |
Nap1l3 |
nucleosome assembly protein 1-like 3 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:88,347,595...88,350,393
Ensembl chr X:88,347,598...88,350,393
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G |
Ndp |
norrin cystine knot growth factor NDP |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
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G |
Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633
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G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062
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G |
Nexmif |
neurite extension and migration factor |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:69,088,076...69,219,253
Ensembl chr X:69,088,076...69,112,930
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G |
Nhs |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:32,553,300...32,892,961
Ensembl chr X:32,552,026...32,889,992
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G |
Nhsl2 |
NHS-like 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:66,969,953...67,209,464
Ensembl chr X:66,970,151...67,200,911
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G |
Nkap |
NFKB activating protein |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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G |
Nkrf |
NFKB repressing factor |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:116,126,341...116,144,554
Ensembl chr X:116,128,798...116,144,628
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G |
Nlgn3 |
neuroligin 3 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876
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G |
Nono |
non-POU domain containing, octamer-binding |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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G |
Nox1 |
NADPH oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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G |
Nr0b1 |
nuclear receptor subfamily 0, group B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
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G |
Nrk |
Nik related kinase |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:102,365,765...102,462,957
Ensembl chr X:102,365,765...102,459,657
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 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 |
Nudt10 |
nudix hydrolase 10 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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G |
Nudt11 |
nudix hydrolase 11 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:16,326,775...16,333,396
Ensembl chr X:16,326,598...16,333,145
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G |
Nup62cl |
nucleoporin 62 C-terminal like |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:103,668,458...103,724,957
Ensembl chr X:103,668,455...103,724,081
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G |
Nxf2 |
nuclear RNA export factor 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:98,135,953...98,157,117
Ensembl chr X:98,135,950...98,157,089
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G |
Nxf3 |
nuclear RNA export factor 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:99,025,901...99,050,409
Ensembl chr X:99,025,901...99,039,261
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G |
Nxf7 |
nuclear RNA export factor 7 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:98,535,374...98,552,562
Ensembl chr X:98,535,375...98,552,526
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G |
Nxt2 |
nuclear transport factor 2-like export factor 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:105,855,616...105,862,902
Ensembl chr X:105,855,608...105,862,899
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G |
Nyx |
nyctalopin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
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G |
Ocrl |
OCRL, inositol polyphosphate-5-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362
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G |
Ogt |
O-linked N-acetylglucosamine (GlcNAc) transferase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:66,771,278...66,816,148
Ensembl chr X:66,771,349...66,816,146
|
|
G |
Ophn1 |
oligophrenin 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:63,599,746...63,976,678
Ensembl chr X:63,603,042...63,976,633
|
|
G |
Opn1mw |
opsin 1, medium wave sensitive |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 PMID:31690835 More...
|
|
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
|
|
G |
Otc |
ornithine transcarbamylase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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|
G |
Otud5 |
OTU deubiquitinase 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
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|
G |
Otud6a |
OTU deubiquitinase 6A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:65,514,113...65,516,287
Ensembl chr X:65,514,191...65,515,063
|
|
G |
P2ry10 |
P2Y receptor family member 10 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:72,121,558...72,207,174
Ensembl chr X:72,111,264...72,212,265
|
|
G |
P2ry4 |
pyrimidinergic receptor P2Y4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:65,681,680...65,717,404
Ensembl chr X:65,683,232...65,721,748
|
|
G |
Pabir2 |
PABIR family member 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:132,989,124...133,015,625
Ensembl chr X:132,989,124...133,015,580
|
|
G |
Pabir3 |
PABIR family member 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:133,020,162...133,083,801
Ensembl chr X:133,020,190...133,083,805
|
|
G |
Pabpc1l2a |
poly(A) binding protein, cytoplasmic 1-like 2A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:68,023,845...68,026,508
|
|
G |
Pabpc1l2b |
poly(A) binding protein cytoplasmic 1 like 2B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
|
|
G |
Pabpc5 |
poly A binding protein, cytoplasmic 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:85,637,763...85,641,235
Ensembl chr X:85,638,574...85,639,722
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|
G |
Pak3 |
p21 (RAC1) activated kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:107,116,308...107,374,342
Ensembl chr X:107,260,898...107,368,314
|
|
G |
Pasd1 |
PAS domain containing repressor 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:149,617,933...149,639,214
Ensembl chr X:149,620,972...149,638,675
|
|
G |
Pbdc1 |
polysaccharide biosynthesis domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:70,154,106...70,197,827
Ensembl chr X:70,154,106...70,184,552
|
|
G |
Pcdh11x |
protocadherin 11 X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:86,058,348...86,751,078
Ensembl chr X:86,058,394...86,747,036
|
|
G |
Pcdh19 |
protocadherin 19 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
|
|
G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
|
|
G |
Pcyt1b |
phosphate cytidylyltransferase 1B, choline |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:58,378,090...58,471,623
Ensembl chr X:58,378,116...58,468,935
|
|
G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
|
|
G |
Pdk3 |
pyruvate dehydrogenase kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:58,486,699...58,553,533
Ensembl chr X:58,486,554...58,553,557
|
|
G |
Pdzd11 |
PDZ domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:65,718,689...65,721,742
Ensembl chr X:65,704,067...65,721,642
|
|
G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
|
|
G |
Pfkfb1 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:19,508,522...19,562,165
Ensembl chr X:19,508,546...19,562,182
|
|
G |
Pgk1 |
phosphoglycerate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:71,271,454...71,287,429
Ensembl chr X:71,271,440...71,287,418
|
|
G |
Pgrmc1 |
progesterone receptor membrane component 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682
|
|
G |
Phex |
phosphate regulating endopeptidase X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
|
|
G |
Phf6 |
PHD finger protein 6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
|
|
G |
Phf8 |
PHD finger protein 8 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:20,524,103...20,623,459
Ensembl chr X:20,524,558...20,623,410
|
|
G |
Phka1 |
phosphorylase kinase regulatory subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:67,601,302...67,738,504
Ensembl chr X:67,601,302...67,738,455
|
|
G |
Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466
|
|
G |
Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
|
|
G |
Pim2 |
Pim-2 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
|
|
G |
Pin4 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:67,232,066...67,238,709
Ensembl chr X:67,232,081...67,238,702
|
|
G |
Pir |
pirin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218
|
|
G |
Pja1 |
praja ring finger ubiquitin ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:64,580,938...64,585,846
Ensembl chr X:64,580,849...64,585,833
|
|
G |
Plac1 |
placenta enriched 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:132,821,347...132,955,143
Ensembl chr X:132,821,347...132,985,668
|
|
G |
Plp1 |
proteolipid protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
|
|
G |
Plp2 |
proteolipid protein 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514
|
|
G |
Pls3 |
plastin 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891
|
|
G |
Plxna3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
|
|
G |
Plxnb3 |
plexin B3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
|
|
G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
|
|
G |
Pnma3 |
PNMA family member 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
|
|
G |
Pnma5 |
PNMA family member 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
|
|
G |
Pnma6e |
PNMA family member 6E |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
|
|
G |
Pof1b |
POF1B, actin binding protein |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:77,683,128...77,749,827
Ensembl chr X:77,683,128...77,749,688
|
|
G |
Pola1 |
DNA polymerase alpha 1, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:58,034,617...58,348,612
Ensembl chr X:58,034,619...58,348,536
|
|
G |
Porcn |
porcupine O-acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481
|
|
G |
Pou3f4 |
POU class 3 homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:75,858,646...75,859,923
Ensembl chr X:75,858,646...75,859,923
|
|
G |
Ppef1 |
protein phosphatase with EF-hand domain 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701
|
|
G |
Ppp1r3f |
protein phosphatase 1, regulatory subunit 3F |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193
|
|
G |
Pqbp1 |
polyglutamine binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
|
|
G |
Praf2 |
PRA1 domain family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
|
|
G |
Prdx4 |
peroxiredoxin 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:40,026,762...40,044,066
Ensembl chr X:40,026,651...40,044,066
|
|
G |
Prickle3 |
prickle planar cell polarity protein 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
|
|
G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
|
|
G |
Prr32 |
proline rich 32 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:123,978,010...123,979,928
Ensembl chr X:123,977,985...123,979,942
|
|
G |
Prrg1 |
proline rich and Gla domain 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:42,494,256...42,606,612
Ensembl chr X:42,494,256...42,606,588
|
|
G |
Prrg3 |
proline rich and Gla domain 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:149,666,498...149,689,353
Ensembl chr X:149,670,257...149,677,373
|
|
G |
Psmd10 |
proteasome 26S subunit, non-ATPase 10 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:104,656,809...104,665,122
Ensembl chr X:104,656,812...104,665,097
|
|
G |
Ptchd1 |
patched domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:39,681,910...39,733,416
Ensembl chr X:39,681,910...39,733,519
|
|
G |
Pwwp3b |
PWWP domain containing 3B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:102,804,416...102,838,580
Ensembl chr X:102,804,520...102,838,574
|
|
G |
Pwwp4 |
PWWP domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,008,141...151,014,223
Ensembl chr X:151,008,123...151,014,216
|
|
G |
Rab33a |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
|
|
G |
Rab9b |
RAB9B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701
|
|
G |
Radx |
RPA1 related single stranded DNA binding protein, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:103,089,284...103,176,840
Ensembl chr X:103,089,284...103,176,838
|
|
G |
Rai2 |
retinoic acid induced 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:32,948,656...33,011,222
Ensembl chr X:32,948,656...33,011,264
|
|
G |
Rap2c |
RAP2C, member of RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:130,504,554...130,517,671
Ensembl chr X:130,504,698...130,518,328
|
|
G |
Rbbp7 |
RB binding protein 7, chromatin remodeling factor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:31,913,080...31,931,245
Ensembl chr X:31,913,081...31,931,226
|
|
G |
Rbm10 |
RNA binding motif protein 10 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
|
|
G |
Rbm3 |
RNA binding motif protein 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
|
|
G |
Rbm41 |
RNA binding motif protein 41 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:103,605,732...103,660,381
Ensembl chr X:103,608,585...103,660,381
|
|
G |
Rbmx |
RNA binding motif protein, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
|
|
G |
Rbmx2 |
RNA binding motif protein, X-linked 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,888,514...127,896,239
Ensembl chr X:127,888,438...127,896,869
|
|
G |
Renbp |
renin binding protein |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 PMID:31690835 More...
|
|
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
|
|
G |
Reps2 |
RALBP1 associated Eps domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:32,049,455...32,322,317
Ensembl chr X:32,049,399...32,317,414
|
|
G |
Rgn |
regucalcin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,619,030...1,634,456
Ensembl chr X:1,619,032...1,634,450
|
|
G |
Rhox13 |
Rhox homeobox family member 13 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,911,226...116,917,758
Ensembl chr X:116,911,329...116,917,644
|
|
G |
Rhoxf2b |
Rhox homeobox family member 2B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870
|
|
G |
Ribc1 |
RIB43A domain with coiled-coils 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:21,091,717...21,103,688
Ensembl chr X:21,091,717...21,103,200
|
|
G |
Ripply1 |
ripply transcriptional repressor 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:103,436,731...103,440,904
Ensembl chr X:103,436,729...103,443,349
|
|
G |
Rlim |
ring finger protein, LIM domain interacting |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:68,983,259...69,004,368
Ensembl chr X:68,988,375...69,004,271
|
|
G |
Rnf113a1 |
ring finger protein 113A1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762
|
|
G |
Rnf128 |
ring finger protein 128 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:103,183,643...103,298,431
Ensembl chr X:103,183,831...103,298,423
|
|
G |
Rp2 |
RP2 activator of ARL3 GTPase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,872,582...1,916,704
Ensembl chr X:1,873,306...1,916,688
|
|
G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
|
|
G |
Rpl10 |
ribosomal protein L10 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
|
|
G |
Rpl36a |
ribosomal protein L36A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
|
|
G |
Rpl39 |
ribosomal protein L39 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,327,216...116,330,211
Ensembl chr18:6,326,330...6,326,692 Ensembl chr X:6,326,330...6,326,692
|
|
G |
Rps4x |
ribosomal protein S4, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:67,298,522...67,302,965
Ensembl chr X:67,298,525...67,303,019 Ensembl chr 4:67,298,525...67,303,019
|
|
G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
|
|
G |
Rps6ka6 |
ribosomal protein S6 kinase A6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:76,353,316...76,454,502
Ensembl chr X:76,353,760...76,454,484
|
|
G |
RragB |
Ras-related GTP binding B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:18,184,619...18,234,639
Ensembl chr X:18,184,992...18,234,639
|
|
G |
Rs1 |
retinoschisin 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
|
|
G |
Rtl3 |
retrotransposon Gag like 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:71,947,343...71,951,008
Ensembl chr X:71,948,253...71,950,121
|
|
G |
Rtl4 |
retrotransposon Gag like 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:108,231,052...108,641,768
Ensembl chr X:108,633,651...108,640,050
|
|
G |
Rtl5 |
retrotransposon Gag like 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:67,183,948...67,188,747
Ensembl chr X:67,184,154...67,188,809
|
|
G |
Rtl8a |
retrotransposon Gag like 8A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:133,414,027...133,415,240
Ensembl chr X:133,414,030...133,415,240
|
|
G |
Rtl9 |
retrotransposon Gag like 9 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:106,708,454...106,720,607
Ensembl chr X:106,714,868...106,719,794
|
|
G |
S100g |
S100 calcium binding protein G |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:31,705,853...31,708,422
Ensembl chr X:31,705,866...31,708,433
|
|
G |
Sash3 |
SAM and SH3 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,326,815...127,341,521
Ensembl chr X:127,326,859...127,341,519
|
|
G |
Sat1 |
spermidine/spermine N1-acetyl transferase 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:40,158,354...40,161,641
Ensembl chr X:40,157,046...40,196,813
|
|
G |
Satl1 |
spermidine/spermine N1-acetyl transferase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:77,453,357...77,469,100
Ensembl chr X:77,453,357...77,469,158
|
|
G |
Scml1 |
Scm polycomb group protein like 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:32,893,100...32,912,686
Ensembl chr X:32,894,327...32,911,366
|
|
G |
Scml2 |
Scm polycomb group protein like 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742
|
|
G |
Septin6 |
septin 6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,153,255...116,230,334
Ensembl chr X:116,153,255...116,230,115
|
|
G |
Serpina7 |
serpin family A member 7 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:102,663,242...102,722,319
Ensembl chr X:102,663,405...102,669,040
|
|
G |
Sh2d1a |
SH2 domain containing 1A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:121,373,693...121,401,923
|
|
G |
Sh3bgrl1 |
SH3 domain binding glutamate rich protein like 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:74,167,029...74,263,783
Ensembl chr X:74,166,871...74,263,783
|
|
G |
Sh3kbp1 |
SH3 domain-containing kinase-binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
|
|
G |
Shroom4 |
shroom family member 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:15,869,065...16,076,850
Ensembl chr X:15,869,065...16,076,869
|
|
G |
Slc10a3 |
solute carrier family 10, member 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
|
|
G |
Slc16a2 |
solute carrier family 16 member 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771
|
|
G |
Slc25a14 |
solute carrier family 25 member 14 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,807,630...127,845,823
Ensembl chr X:127,807,449...127,845,823
|
|
G |
Slc25a43 |
solute carrier family 25, member 43 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:115,977,437...116,011,789
Ensembl chr X:115,977,510...116,011,205
|
|
G |
Slc25a5 |
solute carrier family 25 member 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,031,896...116,034,963
Ensembl chr X:116,031,803...116,034,967
|
|
G |
Slc25a53 |
solute carrier family 25, member 53 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:100,306,917...100,319,662
Ensembl chr X:100,306,915...100,319,863
|
|
G |
Slc35a2 |
solute carrier family 35 member A2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
|
|
G |
Slc38a5 |
solute carrier family 38, member 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,213,727...14,222,498
Ensembl chr X:14,213,729...14,222,498
|
|
G |
Slc6a14 |
solute carrier family 6 member 14 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:112,314,643...112,375,412
Ensembl chr X:112,314,691...112,375,096
|
|
G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
|
|
G |
Slc7a3 |
solute carrier family 7 member 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:66,210,071...66,216,482
Ensembl chr X:66,210,081...66,215,708
|
|
G |
Slc9a6 |
solute carrier family 9 member A6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
|
|
G |
Slc9a7 |
solute carrier family 9 member A7 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:2,214,064...2,395,052
Ensembl chr X:2,214,441...2,388,012
|
|
G |
Slitrk2 |
SLIT and NTRK-like family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:145,246,448...145,259,983
Ensembl chr X:145,246,460...145,271,220
|
|
G |
Slitrk4 |
SLIT and NTRK-like family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:142,706,495...142,718,968
Ensembl chr X:142,706,338...142,718,575
|
|
G |
Smarca1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:126,980,201...127,066,385
Ensembl chr X:126,994,947...127,066,347
|
|
G |
Smc1a |
structural maintenance of chromosomes 1A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
|
|
G |
Smim10 |
small integral membrane protein 10 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
|
|
G |
Smpx |
small muscle protein, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:37,233,209...37,292,266
Ensembl chr X:37,234,294...37,276,708
|
|
G |
Sms |
spermine synthase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:37,516,949...37,572,657
Ensembl chr X:37,516,931...37,570,822
|
|
G |
Snx12 |
sorting nexin 12 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:66,226,995...66,356,945
Ensembl chr X:66,227,053...66,356,950
|
|
G |
Sowahd |
sosondowah ankyrin repeat domain family member D |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,292,030...116,293,660
Ensembl chr X:116,292,030...116,293,660
|
|
G |
Sox3 |
SRY-box transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678
|
|
G |
Spaca5 |
sperm acrosome associated 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:918,817...922,000
Ensembl chr X:918,817...922,049
|
|
G |
Spin2a |
spindlin family member 2A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:17,511,018...17,513,001
Ensembl chr X:17,511,022...17,513,001
|
|
G |
Spin2b |
spindlin family member 2B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:17,190,573...17,192,351
Ensembl chr X:17,180,474...17,192,351
|
|
G |
Spin4 |
spindlin family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:59,888,728...59,892,817
Ensembl chr X:59,891,581...59,892,330
|
|
G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
|
|
G |
Srpx |
sushi-repeat-containing protein, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:12,676,984...12,751,296
Ensembl chr X:12,566,645...12,747,882
|
|
G |
Srpx2 |
sushi-repeat-containing protein, X-linked 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,106,455...97,132,197
Ensembl chr X:97,106,561...97,132,195
|
|
G |
Ssr4 |
signal sequence receptor subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
|
|
G |
Ssx1 |
SSX family member 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720
|
|
G |
Ssx2 |
SSX family member 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:698,867...715,891
Ensembl chr X:698,882...715,907
|
|
G |
Stag2 |
STAG2 cohesin complex component |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677
|
|
G |
Stard8 |
StAR-related lipid transfer domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:64,079,079...64,196,052
Ensembl chr X:64,124,574...64,196,052
|
|
G |
Steep1 |
STING1 ER exit protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,087,626...116,114,159
Ensembl chr X:116,060,929...116,114,159
|
|
G |
Stk26 |
serine/threonine kinase 26 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:130,325,064...130,375,674
Ensembl chr X:130,310,885...130,374,291
|
|
G |
Supt20hl1 |
Supt20h like 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:58,708,504...58,758,962
Ensembl chr X:58,708,504...58,758,960
|
|
G |
Supt20hl2 |
SUPT20H like 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:58,645,548...58,653,436
Ensembl chr X:58,646,432...58,649,965
|
|
G |
Suv39h1 |
SUV39H1 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982
|
|
G |
Suv39h1-ps1 |
SUV39H1 histone lysine methyltransferase, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:141,792,589...141,795,257
|
|
G |
Syap1 |
synapse associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:31,792,180...31,826,672
Ensembl chr X:31,792,193...31,826,667
|
|
G |
Syn1 |
synapsin I |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396
|
|
G |
Syp |
synaptophysin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
|
|
G |
Sytl4 |
synaptotagmin-like 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,135,496...97,185,867
Ensembl chr X:97,135,500...97,185,854
|
|
G |
Sytl5 |
synaptotagmin-like 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:12,775,529...13,030,134
Ensembl chr X:12,788,698...13,030,175
|
|
G |
Tab3 |
TGF-beta activated kinase 1 (MAP3K7) binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:49,972,414...50,044,658
Ensembl chr X:49,972,330...50,042,056
|
|
G |
Taf1 |
TATA-box binding protein associated factor 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:66,640,915...66,716,543
Ensembl chr X:66,640,982...66,716,543
|
|
G |
Taf7l |
TATA-box binding protein associated factor 7-like |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023
|
|
G |
Taf9b |
TATA-box binding protein associated factor 9b |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:71,289,290...71,300,142
Ensembl chr X:71,289,290...71,300,604
|
|
G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
|
|
G |
Tasl |
TLR adaptor interacting with endolysosomal SLC15A4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:50,403,962...50,423,141
Ensembl chr X:50,361,248...50,423,269
|
|
G |
Tbc1d25 |
TBC1 domain family, member 25 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
|
|
G |
Tbc1d8b |
TBC1 domain family member 8B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:103,319,181...103,407,137
Ensembl chr X:103,319,340...103,407,133
|
|
G |
Tbx22 |
T-box transcription factor 22 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
|
|
G |
Tceal1 |
transcription elongation factor A like 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:100,058,485...100,060,439
Ensembl chr X:100,058,132...100,060,551
|
|
G |
Tceal3 |
transcription elongation factor A like 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:100,010,677...100,012,637
Ensembl chr X:100,010,690...100,012,654
|
|
G |
Tceal5 |
transcription elongation factor A like 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:99,204,422...99,207,373
Ensembl chr X:99,204,429...99,207,353
|
|
G |
Tceal7 |
transcription elongation factor A like 7 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:99,228,405...99,230,551
Ensembl chr X:99,228,458...99,230,543
|
|
G |
Tceal8 |
transcription elongation factor A like 8 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:99,171,307...99,173,377
Ensembl chr X:99,171,177...99,173,710
|
|
G |
Tceal9 |
transcription elongation factor A like 9 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:99,245,645...99,247,720
Ensembl chr X:99,228,458...99,247,763
|
|
G |
Tcp11x2 |
t-complex 11 family, X-linked 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:98,591,191...98,640,800
Ensembl chr X:98,591,189...98,640,763
|
|
G |
Tenm1 |
teneurin transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:121,400,466...122,289,877
Ensembl chr X:121,403,649...122,290,207
|
|
G |
Tent5d |
terminal nucleotidyltransferase 5D |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:72,901,287...72,974,562
Ensembl chr X:72,901,241...72,970,573
|
|
G |
Tex11 |
testis expressed 11 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:65,932,904...66,196,525
Ensembl chr X:65,932,988...66,196,187
|
|
G |
Tex13a |
testis expressed 13A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:101,598,992...101,601,951
Ensembl chr X:101,600,495...101,601,933
|
|
G |
Tex13b |
testis expressed 13B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:104,490,937...104,511,224
Ensembl chr X:104,490,091...104,494,201
|
|
G |
Tex28 |
testis expressed 28 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
|
|
G |
Tfe3 |
transcription factor binding to IGHM enhancer 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
|
|
G |
Tgif2lx2 |
TGFB-induced factor homeobox 2-like, X-linked 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:84,109,203...84,110,264
Ensembl chr X:84,109,220...84,110,274
|
|
G |
Thoc2 |
THO complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:120,634,966...120,749,569
Ensembl chr X:120,634,968...120,749,513
|
|
G |
Timm17b |
translocase of inner mitochondrial membrane 17b |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416
|
|
G |
Timm8a1 |
translocase of inner mitochondrial membrane 8A1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
|
|
G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
|
|
G |
Tktl1 |
transketolase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
|
|
G |
Tmem164 |
transmembrane protein 164 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:106,288,019...106,448,642
Ensembl chr X:106,289,371...106,448,640
|
|
G |
Tmem185a |
transmembrane protein 185A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:149,143,026...149,167,757
Ensembl chr X:149,143,031...149,167,757
|
|
G |
Tmem255a |
transmembrane protein 255A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008
|
|
G |
Tmem35a |
transmembrane protein 35A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,503,350...97,514,198
Ensembl chr X:97,503,350...97,514,197
|
|
G |
Tmem47 |
transmembrane protein 47 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:45,421,405...45,447,900
Ensembl chr X:45,421,405...45,447,900
|
|
G |
Tmsb15b2 |
thymosin beta 15B2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:100,298,705...100,300,820
Ensembl chr X:100,298,514...100,300,886
|
|
G |
Tnmd |
tenomodulin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,057,137...97,072,634
Ensembl chr X:97,057,137...97,072,634
|
|
G |
Trex2 |
three prime repair exonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
|
|
G |
Trmt2b |
tRNA methyltransferase 2 homolog B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,425,712...97,483,821
|
|
G |
Tro |
trophinin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:19,563,395...19,574,507
Ensembl chr X:19,563,517...19,572,953
|
|
G |
Trpc5 |
transient receptor potential cation channel, subfamily C, member 5 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:107,946,163...108,230,991
Ensembl chr X:107,939,131...108,230,991
|
|
G |
Trpc5os |
TRPC5 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:108,025,172...108,044,201
Ensembl chr X:108,024,924...108,046,581
|
|
G |
Tsc22d3 |
TSC22 domain family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:104,217,898...104,277,886
Ensembl chr X:104,217,925...104,276,861
|
|
G |
Tspan6 |
tetraspanin 6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,092,394...97,099,659
Ensembl chr X:97,092,388...97,099,309
|
|
G |
Tspan7 |
tetraspanin 7 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:12,208,783...12,306,092
Ensembl chr X:12,208,783...12,306,131
|
|
G |
Tspyl2 |
TSPY-like 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:21,439,478...21,445,208
Ensembl chr X:21,439,478...21,445,089
|
|
G |
Tsr2 |
TSR2, ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
|
|
G |
Txlng |
taxilin gamma |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:31,864,111...31,912,931
Ensembl chr X:31,864,111...31,912,926
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G |
Uba1 |
ubiquitin-like modifier activating enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
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G |
Ube2a |
ubiquitin-conjugating enzyme E2A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,114,339...116,125,076
Ensembl chr X:116,113,875...116,125,070
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G |
Ubl4a |
ubiquitin-like 4A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 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 |
Ubqln2 |
ubiquilin 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505
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G |
Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
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G |
Uprt |
uracil phosphoribosyltransferase homolog |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:69,516,573...69,546,811
Ensembl chr X:69,516,738...69,546,797
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G |
Usp11 |
ubiquitin specific peptidase 11 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,473,349...1,489,520
Ensembl chr X:1,473,350...1,489,520
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G |
Usp26 |
ubiquitin specific peptidase 26 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:131,317,200...131,363,964
Ensembl chr X:131,319,194...131,363,970
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G |
Usp27x |
ubiquitin specific peptidase 27, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912
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G |
Usp51 |
ubiquitin specific peptidase 51 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:18,374,940...18,381,472
Ensembl chr X:18,376,930...18,379,888
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G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
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G |
Utp14a |
UTP14A small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,439,282...127,464,634
Ensembl chr X:127,439,268...127,464,633
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G |
Uxt |
ubiquitously-expressed, prefoldin-like chaperone |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,126,110...1,138,670
Ensembl chr X:1,126,162...1,138,663
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G |
Vcf2 |
VCP nuclear cofactor family member 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:19,310,182...19,393,156
Ensembl chr X:19,349,560...19,378,486
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G |
Vegfd |
vascular endothelial growth factor D |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295
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G |
Vgll1 |
vestigial-like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:134,979,657...134,996,007
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G |
Vma21 |
vacuolar ATPase assembly factor VMA21 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
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NCBI chr X:149,491,709...149,501,010
Ensembl chr X:149,491,738...149,499,272
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G |
Vsig1 |
V-set and immunoglobulin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:104,607,031...104,640,128
Ensembl chr X:104,607,031...104,639,249
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G |
Vsig4 |
V-set and immunoglobulin domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:61,144,926...61,170,212
Ensembl chr X:61,144,928...61,170,212
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G |
Was |
WASP actin nucleation promoting factor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
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G |
Wdr13 |
WD repeat domain 13 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727
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G |
Wdr44 |
WD repeat domain 44 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:114,481,890...114,587,307
Ensembl chr X:114,482,006...114,587,224
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G |
Wdr45 |
WD repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
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G |
Wnk3 |
WNK lysine deficient protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:20,156,260...20,299,252
Ensembl chr X:20,157,041...20,296,821
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G |
Xiap |
X-linked inhibitor of apoptosis |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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G |
Xist |
X inactive specific transcript |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:68,474,987...68,492,500
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G |
Xk |
X-linked Kx blood group antigen, Kell and VPS13A binding protein |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:13,436,412...13,472,830
Ensembl chr X:13,436,418...13,472,830
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G |
Xkrx |
XK related, X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,341,158...97,353,175
Ensembl chr X:97,341,152...97,354,759
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G |
Xpnpep2 |
X-prolyl aminopeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,287,765...127,317,036
Ensembl chr X:127,287,979...127,317,223
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G |
Yipf6 |
Yip1 domain family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:64,039,602...64,051,715
Ensembl chr X:64,040,952...64,054,702
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G |
Yy2 |
YY2 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:37,438,425...37,442,047
Ensembl chr X:37,410,811...37,464,430
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G |
Zbtb33 |
zinc finger and BTB domain containing 33 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023
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G |
Zc3h12b |
zinc finger CCCH-type containing 12B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:60,615,616...60,849,278
Ensembl chr X:60,615,682...60,844,832
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G |
Zc4h2 |
zinc finger C4H2-type containing |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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G |
Zcchc12 |
zinc finger CCHC-type containing 12 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692
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G |
Zcchc13 |
zinc finger CCHC-type containing 13 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:68,643,568...68,644,671
Ensembl chr X:68,643,549...68,665,131
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G |
Zdhhc15 |
zinc finger DHHC-type palmitoyltransferase 15 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:69,568,086...69,701,756
Ensembl chr X:69,574,124...69,701,756
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G |
Zdhhc9 |
zinc finger DHHC-type palmitoyltransferase 9 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,352,340...127,388,245
Ensembl chr X:127,352,345...127,388,245
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G |
Zfp157 |
zinc finger protein 157 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698
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G |
Zfp182 |
zinc finger protein 182 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:927,439...1,001,474
Ensembl chr X:899,439...1,000,954
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G |
Zfp185 |
zinc finger protein 185 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 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 |
Zfp275 |
zinc finger protein 275 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
|
|
NCBI chr X:151,057,530...151,074,392
Ensembl chr X:151,057,573...151,074,276
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G |
Zfp280c |
zinc finger protein 280C |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:127,716,403...127,807,600
Ensembl chr X:127,717,983...127,779,825
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G |
Zfp449 |
zinc finger protein 449 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:134,120,820...134,140,921
Ensembl chr X:134,122,636...134,140,924
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G |
Zfp711 |
zinc finger protein 711 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:77,646,300...77,679,398
Ensembl chr X:77,646,558...77,678,045
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G |
Zfp75d |
zinc finger protein 75D |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:134,035,116...134,053,765
Ensembl chr X:134,036,143...134,051,519
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G |
Zfp92 |
ZFP92 zinc finger protein |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 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 |
Zfx |
zinc finger protein X-linked |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:58,804,690...58,853,155
Ensembl chr X:58,804,691...58,853,265
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G |
Zic3 |
Zic family member 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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G |
Zmat1 |
zinc finger, matrin-type 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:98,168,388...98,199,415
Ensembl chr X:98,168,456...98,199,733
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G |
Zmym3 |
zinc finger MYM-type containing 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:66,528,585...66,544,234
Ensembl chr X:66,528,585...66,544,782
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G |
Znf81L |
zinc finger protein 81 like |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,030,103...1,126,078
Ensembl chr X:1,036,153...1,126,102
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G |
Zrsr2 |
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
|
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G |
Zxda |
zinc finger, X-linked, duplicated A |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:59,760,871...59,766,010
Ensembl chr X:59,763,210...59,765,903
|
|
G |
Zxdb |
zinc finger, X-linked, duplicated B |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:59,700,765...59,706,737
Ensembl chr X:59,701,178...59,703,871 Ensembl chr X:59,701,178...59,703,871
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|
G |
Atp6ap2 |
ATPase H+ transporting accessory protein 2 |
|
ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
|
NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
|
|
G |
Bcor |
BCL6 co-repressor |
|
ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
|
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
|
ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19165920 PMID:19377476 PMID:20029458 PMID:21609947 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22495306 PMID:22709267 PMID:23165780 PMID:23406872 PMID:23871722 PMID:23901204 PMID:24505460 PMID:24781210 PMID:24893065 PMID:25326635 PMID:25326637 PMID:25640679 PMID:25741868 PMID:25886057 PMID:26467025 PMID:27173948 PMID:27652284 PMID:27799067 PMID:28132688 PMID:28407358 PMID:28492532 PMID:28783747 PMID:28944139 PMID:29691940 PMID:29878067 PMID:30549415 PMID:31474318 PMID:31785789 PMID:33090494 PMID:33504798 More...
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|
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
|
|
G |
Cxhxorf38 |
similar to human chromosome X open reading frame 38 |
|
ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
|
NCBI chr X:10,128,070...10,150,904
Ensembl chr X:10,129,657...10,150,900
|
|
G |
Ddx3x |
DEAD-box helicase 3, X-linked |
|
ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
|
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
|
|
G |
Gpr34 |
G protein-coupled receptor 34 |
|
ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23901204 PMID:28492532 More...
|
|
NCBI chr X:9,104,829...9,113,796
Ensembl chr X:9,104,565...9,148,601
|
|
G |
Gpr82 |
G protein-coupled receptor 82 |
|
ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23901204 PMID:28492532 More...
|
|
NCBI chr X:9,079,016...9,084,696
Ensembl chr X:9,080,254...9,081,240
|
|
G |
Ldlr |
low density lipoprotein receptor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type |
ClinVar |
PMID:1301956 PMID:9654205 PMID:9974426 PMID:11139254 PMID:11317361 PMID:11641914 PMID:11754108 PMID:15199436 PMID:15241806 PMID:15864114 PMID:17196209 PMID:17335829 PMID:17539906 PMID:17765246 PMID:18206115 PMID:18263977 PMID:19026292 PMID:19118540 PMID:19446849 PMID:20145306 PMID:20506408 PMID:20663204 PMID:21310417 PMID:21865347 PMID:21925044 PMID:22390909 PMID:22698793 PMID:23375686 PMID:24033266 PMID:24507775 PMID:25461735 PMID:25463123 PMID:25487149 PMID:25637381 PMID:25647241 PMID:25741868 PMID:25936317 PMID:26020417 PMID:26036859 PMID:26238499 PMID:26467025 PMID:26723464 PMID:27765764 PMID:27824480 PMID:27998977 PMID:28492532 PMID:28965616 PMID:29261184 PMID:30710474 PMID:31345425 PMID:31447099 PMID:31617323 PMID:32041611 PMID:32660911 PMID:32719484 PMID:32770674 PMID:32977124 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33740630 PMID:33975813 PMID:34037665 PMID:34167030 PMID:35535697 More...
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NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Med14 |
mediator complex subunit 14 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
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NCBI chr X:10,036,749...10,127,910
Ensembl chr X:10,036,805...10,126,240
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Mpc1l |
mitochondrial pyruvate carrier 1-like |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
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NCBI chr X:10,146,274...10,147,145
Ensembl chr X:10,146,293...10,147,145
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Nyx |
nyctalopin |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
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NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
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Usp9x |
ubiquitin specific peptidase 9, X-linked |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
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NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
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Ube2a |
ubiquitin-conjugating enzyme E2A |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Nascimento type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16909393 PMID:20412111 PMID:25741868 PMID:32415735 |
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NCBI chr X:116,114,339...116,125,076
Ensembl chr X:116,113,875...116,125,070
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Fancb |
FA complementation group B |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type |
ClinVar |
PMID:20479760 PMID:25741868 PMID:28588452 |
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NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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Glra2 |
glycine receptor, alpha 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type |
OMIM ClinVar |
PMID:20479760 PMID:25741868 PMID:26370147 PMID:28588452 PMID:35294868 |
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NCBI chr X:29,020,377...29,241,666
Ensembl chr X:29,020,557...29,241,666
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Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type |
ClinVar |
PMID:17436253 PMID:24357419 PMID:28492532 |
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NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Apln |
apelin |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type |
ClinVar |
PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532 |
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NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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Bcorl1 |
BCL6 co-repressor-like 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type |
ClinVar |
PMID:17436253 PMID:24357419 PMID:28492532 |
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NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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Elf4 |
E74 like ETS transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type |
ClinVar |
PMID:17436253 PMID:24357419 PMID:28492532 |
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NCBI chr X:127,587,401...127,639,063
Ensembl chr X:127,590,650...127,630,200
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Ocrl |
OCRL, inositol polyphosphate-5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type |
ClinVar |
PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532 |
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NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362
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Sash3 |
SAM and SH3 domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type |
ClinVar |
PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532 |
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NCBI chr X:127,326,815...127,341,521
Ensembl chr X:127,326,859...127,341,519
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Utp14a |
UTP14A small subunit processome component |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type |
ClinVar |
PMID:17436253 PMID:24357419 PMID:28492532 |
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NCBI chr X:127,439,282...127,464,634
Ensembl chr X:127,439,268...127,464,633
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Xpnpep2 |
X-prolyl aminopeptidase 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type |
ClinVar |
PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532 |
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NCBI chr X:127,287,765...127,317,036
Ensembl chr X:127,287,979...127,317,223
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Zdhhc9 |
zinc finger DHHC-type palmitoyltransferase 9 |
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ISO ISS |
OMIM:300799 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:17436253 PMID:17576681 PMID:19377476 PMID:22796527 PMID:24357419 PMID:24811172 PMID:25649377 PMID:25741868 PMID:28492532 PMID:28687527 PMID:29681091 More...
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NCBI chr X:127,352,340...127,388,245
Ensembl chr X:127,352,345...127,388,245
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Rbmx |
RNA binding motif protein, X-linked |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Shashi type |
OMIM CTD ClinVar |
PMID:10677307 PMID:25256757 PMID:25741868 |
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NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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Phf8 |
PHD finger protein 8 |
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ISO ISS |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type OMIM:300263 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:10398231 PMID:16199551 PMID:17594395 PMID:17661819 PMID:25741868 PMID:28492532 PMID:35469323 More...
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NCBI chr X:20,524,103...20,623,459
Ensembl chr X:20,524,558...20,623,410
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Sms |
spermine synthase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SMS-Related Disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Snyder type |
OMIM CTD ClinVar |
PMID:5823961 PMID:14508504 PMID:18550699 PMID:19206178 PMID:19377476 PMID:22612257 PMID:23696453 PMID:23805436 PMID:23897707 PMID:25741868 PMID:25888122 PMID:26174906 PMID:26467025 PMID:26761001 PMID:28492532 PMID:31580924 PMID:33624935 PMID:34177437 More...
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NCBI chr X:37,516,949...37,572,657
Ensembl chr X:37,516,931...37,570,822
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Aff2 |
ALF transcription elongation factor 2 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE |
ClinVar |
PMID:25741868 |
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NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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Camta1 |
calmodulin binding transcription activator 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE |
ClinVar |
PMID:25741868 |
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NCBI chr 5:161,510,283...162,356,902
Ensembl chr 5:161,510,283...162,356,723
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Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: HUWE1-related condition | ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:6107045 PMID:7943042 PMID:7943044 PMID:9536098 PMID:16700052 PMID:17576681 PMID:18252223 PMID:19377476 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:25741869 PMID:25985138 PMID:27130160 PMID:27884935 PMID:28492532 PMID:29118367 PMID:29180823 PMID:30797980 PMID:35887114 More...
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NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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Ski |
Ski proto-oncogene |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
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ISO |
ClinVar Annotator: match by term: CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR | ClinVar Annotator: match by term: HSD10 mitochondrial disease | ClinVar Annotator: match by term: HSD17B10-Related Disorder CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10521307 PMID:11102558 PMID:12112118 PMID:12555940 PMID:12696021 PMID:12872843 PMID:15059617 PMID:15342248 PMID:16148061 PMID:16176262 PMID:17236142 PMID:17618155 PMID:18996107 PMID:20077426 PMID:22132097 PMID:23266819 PMID:24549042 PMID:25526675 PMID:25741868 PMID:26950678 PMID:28333917 PMID:28492532 PMID:31654490 PMID:34765396 More...
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NCBI chr X:21,089,142...21,091,603
Ensembl chr X:21,089,122...21,109,488
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Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Lujan Syndrome | ClinVar Annotator: match by term: MED12-related intellectual disability syndrome | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.N1007S(human) |
OMIM ClinVar CTD RGD |
PMID:6711603 PMID:10405444 PMID:16199547 PMID:17334363 PMID:17369503 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:23395478 PMID:24039113 PMID:24077912 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26338144 PMID:26350204 PMID:27980443 PMID:28369444 PMID:28492532 PMID:30006928 PMID:30729724 PMID:31322785 PMID:31536828 PMID:32174975 PMID:32371413 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34008892 PMID:36271811 PMID:17369503 More...
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RGD:12910949 |
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Taf1 |
TATA-box binding protein associated factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33 | ClinVar Annotator: match by term: TAF1-related syndromic intellectual disability |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26637982 PMID:28492532 PMID:29302074 PMID:31646703 PMID:31985533 PMID:32396742 PMID:33098347 More...
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NCBI chr X:66,640,915...66,716,543
Ensembl chr X:66,640,982...66,716,543
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Rpl10 |
ribosomal protein L10 |
susceptibility |
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 |
ClinVar OMIM |
PMID:7626060 PMID:18258260 PMID:25316788 PMID:25741868 PMID:25846674 PMID:26290468 More...
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NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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Cnksr2 |
connector enhancer of kinase suppressor of Ras 2 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HOUGE TYPE |
OMIM ClinVar |
PMID:25223753 PMID:25644381 PMID:25741868 PMID:28098945 PMID:28492532 |
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NCBI chr X:36,908,135...37,148,337
Ensembl chr X:36,907,850...37,150,555
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Rlim |
ring finger protein, LIM domain interacting |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: RLIM-related syndromic intellectual disability | ClinVar Annotator: match by term: TONNE-KALSCHEUER SYNDROME |
OMIM CTD ClinVar |
PMID:25644381 PMID:25735484 PMID:25741868 PMID:29728705 PMID:29742418 |
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NCBI chr X:68,983,259...69,004,368
Ensembl chr X:68,988,375...69,004,271
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Pola1 |
DNA polymerase alpha 1, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, van Esch type |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27019227 PMID:28492532 PMID:31006512 More...
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NCBI chr X:58,034,617...58,348,612
Ensembl chr X:58,034,619...58,348,536
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Zc3h12b |
zinc finger CCCH-type containing 12B |
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ISO |
ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted |
ClinVar |
PMID:25741868 |
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NCBI chr X:60,615,616...60,849,278
Ensembl chr X:60,615,682...60,844,832
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Zc4h2 |
zinc finger C4H2-type containing |
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ISO |
ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted |
OMIM ClinVar |
PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 |
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NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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Hdac8 |
histone deacetylase 8 |
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ISO |
DNA:snp:intron:c.164+5G>A (human) |
RGD |
PMID:22889856 |
RGD:13208817 |
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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Las1l |
LAS1-like, ribosome biogenesis factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Wilson-Turner syndrome |
OMIM CTD ClinVar |
PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532 |
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NCBI chr X:60,851,969...60,873,717
Ensembl chr X:60,851,962...60,873,687
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Zc3h12b |
zinc finger CCCH-type containing 12B |
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ISO |
ClinVar Annotator: match by term: Wilson-Turner syndrome |
ClinVar |
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NCBI chr X:60,615,616...60,849,278
Ensembl chr X:60,615,682...60,844,832
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Ctbp1 |
C-terminal binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Wittwer syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
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Fgfrl1 |
fibroblast growth factor receptor-like 1 |
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ISO |
ClinVar Annotator: match by term: Wittwer syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
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Letm1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Wittwer syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
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Nsd2 |
nuclear receptor binding SET domain protein 2 |
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ISO |
ClinVar Annotator: match by term: Wittwer syndrome |
ClinVar |
PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 PMID:30345613 More...
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NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
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Nuf2 |
NUF2 component of NDC80 kinetochore complex |
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ISO |
ClinVar Annotator: match by term: Wittwer syndrome |
ClinVar |
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NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766
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Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
ClinVar Annotator: match by term: FGD1-Related Disorders | ClinVar Annotator: match by term: FGD1-related condition DNA:deletion:cds:c.2189delA (human) DNA:nonsense mutation:cds:p.W447X (human) DNA:mutations:multiple (human) DNA:insertion:cds:c.2121_2122insG (human) |
OMIM ClinVar RGD |
PMID:14560308 PMID:21739585 PMID:23211637 PMID:25046119 PMID:25741868 PMID:26029706 PMID:28492532 PMID:29276006 PMID:16353258 PMID:23211637 PMID:20082460 PMID:7954831 More...
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RGD:11554031, RGD:11554030, RGD:11554029, RGD:11554024 |
NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566
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Tsr2 |
TSR2, ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: FGD1-related condition |
ClinVar |
PMID:25741868 |
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NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
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Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 |
ClinVar |
PMID:25741868 |
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NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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Slc9a7 |
solute carrier family 9 member A7 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 108 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30335141 |
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NCBI chr X:2,214,064...2,395,052
Ensembl chr X:2,214,441...2,388,012
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Aff2 |
ALF transcription elongation factor 2 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 109 |
OMIM ClinVar |
PMID:18414213 PMID:21739600 PMID:22773736 PMID:23562910 PMID:25741868 PMID:28492532 More...
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NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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Serpina1 |
serpin family A member 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 |
ClinVar |
PMID:1608473 PMID:1889260 PMID:2339709 PMID:2575668 PMID:2696185 PMID:2700304 PMID:2904702 PMID:2989709 PMID:3264419 PMID:3484754 PMID:3500183 PMID:3537008 PMID:3875547 PMID:6306478 PMID:7045697 PMID:7227484 PMID:8970361 PMID:9041988 PMID:9195389 PMID:9569237 PMID:12034572 PMID:14522813 PMID:15115878 PMID:15454649 PMID:15978931 PMID:17964515 PMID:18294358 PMID:18340647 PMID:18414213 PMID:18515255 PMID:18682522 PMID:19083091 PMID:19398551 PMID:19444872 PMID:19738092 PMID:20301692 PMID:20981092 PMID:21067581 PMID:21228398 PMID:21637600 PMID:21960536 PMID:22426792 PMID:22735536 PMID:22912729 PMID:22933512 PMID:22971141 PMID:22975760 PMID:23484243 PMID:23632999 PMID:23837941 PMID:23858502 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24328305 PMID:24428606 PMID:24518491 PMID:24592811 PMID:25181470 PMID:25637381 PMID:25738741 PMID:25741868 PMID:25966443 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26647313 PMID:26672964 PMID:26771213 PMID:26831755 PMID:26987331 PMID:27153395 PMID:27246852 PMID:27535533 PMID:27959697 PMID:28146470 PMID:28492532 PMID:29083408 PMID:29153744 PMID:29431110 PMID:29618937 PMID:29644095 PMID:29882371 PMID:30068317 PMID:30068662 PMID:30254761 PMID:30739910 PMID:31028937 PMID:31216405 PMID:31447099 PMID:31564432 PMID:31980526 PMID:32087139 PMID:32699024 PMID:33144682 PMID:33726816 PMID:34408828 PMID:34408829 More...
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NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Fgf13 |
fibroblast growth factor 13 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 110 |
OMIM ClinVar |
PMID:34184986 |
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NCBI chr X:137,276,498...137,800,056
Ensembl chr X:137,276,511...137,800,391
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G |
Zmym3 |
zinc finger MYM-type containing 3 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 112 | ClinVar Annotator: match by term: ZMYM3-related condition |
OMIM ClinVar |
PMID:24721225 PMID:25741868 PMID:36586412 |
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NCBI chr X:66,528,585...66,544,234
Ensembl chr X:66,528,585...66,544,782
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G |
Cstf2 |
cleavage stimulation factor subunit 2 |
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ISO |
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OMIM |
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NCBI chr X:97,253,559...97,279,476
Ensembl chr X:97,253,586...97,279,476
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Clic2 |
chloride intracellular channel 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome |
OMIM CTD ClinVar |
PMID:21630357 PMID:22814392 PMID:25741868 |
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NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome |
CTD OMIM ClinVar |
PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 PMID:4413922 PMID:8177735 PMID:9038338 PMID:9377804 PMID:9546328 PMID:10232754 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10986043 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11035019 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11106359 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11462237 PMID:11469283 PMID:11524741 PMID:11738860 PMID:11738864 PMID:11738865 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11772708 PMID:11805248 PMID:11807877 PMID:11885030 PMID:11896459 PMID:11896461 PMID:11913567 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12081725 PMID:12111643 PMID:12111644 PMID:12161600 PMID:12180070 PMID:12210319 PMID:12325019 PMID:12325033 PMID:12384770 PMID:12418965 PMID:12552569 PMID:12566531 PMID:12567420 PMID:12615169 PMID:12673788 PMID:12707946 PMID:12719401 PMID:12746405 PMID:12746406 PMID:12750821 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12966523 PMID:14560307 PMID:14598336 PMID:14649554 PMID:14729826 PMID:14974082 PMID:15057977 PMID:15173251 PMID:15211631 PMID:15287421 PMID:15389714 PMID:15526954 PMID:15557528 PMID:15558314 PMID:15578581 PMID:15689435 PMID:15718369 PMID:15737703 PMID:15866439 PMID:16077729 PMID:16080119 PMID:16122633 PMID:16183801 PMID:16376510 PMID:16473305 PMID:16629931 PMID:16672765 PMID:16690727 PMID:16708070 PMID:16763963 PMID:16832102 PMID:16844334 PMID:16879196 PMID:16905679 PMID:16966553 PMID:17084570 PMID:17089071 PMID:17101771 PMID:17142618 PMID:17171659 PMID:17236109 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17383248 PMID:17387578 PMID:17420824 PMID:17427193 PMID:17881312 PMID:17914728 PMID:17986102 PMID:18058624 PMID:18174548 PMID:18174559 PMID:18332345 PMID:18337588 PMID:18414213 PMID:18499664 PMID:18562141 PMID:18678449 PMID:18842453 PMID:18989701 PMID:19133691 PMID:19168818 PMID:19189931 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19442733 PMID:19552836 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19914908 PMID:20031356 PMID:20093853 PMID:20098342 PMID:20116947 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20479760 PMID:20625242 PMID:20631224 PMID:20661168 PMID:20728410 PMID:20815036 PMID:21160487 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21764336 PMID:21831886 PMID:21878110 PMID:21954873 PMID:21982064 PMID:22277191 PMID:22368975 PMID:22476991 PMID:22497713 PMID:22516699 PMID:22525432 PMID:22670143 PMID:22923521 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23421866 PMID:23452848 PMID:23488948 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23859859 PMID:23921973 PMID:24033266 PMID:24321989 PMID:24328834 PMID:24399845 PMID:24453408 PMID:24508304 PMID:24511209 PMID:24621584 PMID:24715477 PMID:24743294 PMID:24916645 PMID:24970834 PMID:25167861 PMID:25283752 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25634563 PMID:25741868 PMID:26175308 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26490184 PMID:26604147 PMID:26647311 PMID:26741492 PMID:26755454 PMID:26795593 PMID:26800272 PMID:26842955 PMID:26936630 PMID:26984561 PMID:27159028 PMID:27255190 PMID:27353517 PMID:27442528 PMID:27465203 PMID:27781091 PMID:27799067 PMID:27929079 PMID:28135719 PMID:28250423 PMID:28351539 PMID:28394482 PMID:28465761 PMID:28492532 PMID:28785396 PMID:28831199 PMID:29046627 PMID:29482495 PMID:29655203 PMID:29720203 PMID:29758562 PMID:29961512 PMID:30081849 PMID:30083362 PMID:30536762 PMID:30564305 PMID:30573328 PMID:30673959 PMID:30868116 PMID:30945278 PMID:31138832 PMID:31535341 PMID:31816669 PMID:31958484 PMID:32214227 PMID:32393352 PMID:32472557 PMID:32477112 PMID:32581362 PMID:32860008 PMID:34324427 PMID:34837432 PMID:35606502 PMID:36430969 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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Sil1 |
SIL1 nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome |
ClinVar |
PMID:19471582 PMID:22995991 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31258504 PMID:33250842 More...
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NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
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Thoc2 |
THO complex subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome |
OMIM CTD ClinVar |
PMID:1605217 PMID:8825049 PMID:25741868 PMID:26166480 PMID:28492532 |
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NCBI chr X:120,634,966...120,749,569
Ensembl chr X:120,634,968...120,749,513
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Dcx |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation |
OMIM ClinVar |
PMID:9489699 PMID:9489700 PMID:9618162 PMID:10369164 PMID:10749977 PMID:11071144 PMID:11175293 PMID:11331616 PMID:11468322 PMID:12552055 PMID:12838518 PMID:17111359 PMID:18414213 PMID:18685874 PMID:22857951 PMID:23365099 PMID:25326635 PMID:25741868 PMID:25868952 PMID:28492532 PMID:29671837 PMID:29706646 PMID:30979500 PMID:31069529 PMID:32238909 PMID:32570172 PMID:34145886 PMID:35213059 More...
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NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Arx |
aristaless related homeobox |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia DNA:mutations:multiple (human) |
OMIM CTD ClinVar RGD |
PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 PMID:14722918 PMID:17664401 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19738637 PMID:20300201 PMID:22252899 PMID:22922607 PMID:23246292 PMID:23757202 PMID:24781210 PMID:25741868 PMID:26029707 PMID:28492532 PMID:32139178 PMID:12379852 More...
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RGD:11565832 |
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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Rbmx |
RNA binding motif protein, X-linked |
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ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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Ophn1 |
oligophrenin 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 60 | ClinVar Annotator: match by term: OPHN1-related condition CTD Direct Evidence: marker/mechanism DNA:deletion:exon:p.T214fs34* (human) DNA:deletion:exon, intron DNA:duplication:exon: c.1385insAAGAATTC (human) DNA:deletion:exon 7:r.487_597del (c.781_891del) (human) |
OMIM ClinVar CTD RGD |
PMID:9582072 PMID:10818214 PMID:12807966 PMID:16199547 PMID:16221952 PMID:18414213 PMID:20528889 PMID:23552953 PMID:25741868 PMID:26467025 PMID:26542245 PMID:28492532 PMID:32238909 PMID:33638601 PMID:34906502 PMID:16158428 PMID:18261018 PMID:12807966 PMID:20528889 PMID:24105372 More...
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RGD:13207450, RGD:13207446, RGD:13207445, RGD:13207444, RGD:13207443 |
NCBI chr X:63,599,746...63,976,678
Ensembl chr X:63,603,042...63,976,633
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Sox3 |
SRY-box transcription factor 3 |
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ISO |
DNA:duplication:cds:c.712_744dup (human) |
RGD |
PMID:12428212 |
RGD:11535974 |
NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678
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Atrx |
ATRX, chromatin remodeler |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1 | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1 DNA:mutation:exon:c. 6740A>C (p.H224P)(human) DNA:nonsense mutation:exon:324C>T (p.R37X) (human) DNA:missense mutation:exon:c.3868G>A (p.R1272Q) (human) |
OMIM CTD ClinVar RGD |
PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 PMID:8968741 PMID:9244431 PMID:9326931 PMID:10398234 PMID:10398237 PMID:10632111 PMID:10995512 PMID:11050622 PMID:12116232 PMID:15508018 PMID:15591283 PMID:16813605 PMID:16955409 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21267006 PMID:23681356 PMID:24289169 PMID:24327140 PMID:24690944 PMID:24728327 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:25936994 PMID:26350204 PMID:26467025 PMID:28027854 PMID:28371217 PMID:28492532 PMID:29706636 PMID:31130284 PMID:32595695 PMID:26997013 PMID:10632111 PMID:8630485 More...
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RGD:13442490, RGD:11040909, RGD:1599406 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Epor |
erythropoietin receptor |
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ISO |
ClinVar Annotator: match by term: Carpenter-Waziri syndrome |
ClinVar |
PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 |
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NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter-Waziri syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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