|
G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy |
OMIM ClinVar 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:7876858 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: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: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: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:24768737 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:27084228 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:30787906 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:34826210 PMID:34946879 PMID:35053399 PMID:35076462 PMID:35196747 PMID:35466195 PMID:35535697 PMID:35645283 More...
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RGD:1598655 |
NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
|
|
G |
Acsbg1 |
acyl-CoA synthetase bubblegum family member 1 |
|
ISO |
|
RGD |
PMID:15800013 |
RGD:11065111 |
NCBI chrNW_004955450:703,874...744,782
Ensembl chrNW_004955450:701,517...745,126
|
|
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...
|
|
NCBI chrNW_004955580:586,986...600,299
|
|
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...
|
|
NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471
|
|
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...
|
|
NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734
|
|
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...
|
|
NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
|
|
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...
|
|
NCBI chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168
|
|
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...
|
|
NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663
|
|
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...
|
|
NCBI chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661
|
|
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...
|
|
NCBI chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435
|
|
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...
|
|
NCBI chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389
|
|
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...
|
|
NCBI chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780
|
|
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...
|
|
NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
|
|
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 chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243
|
|
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 chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455
|
|
G |
Emd |
emerin |
|
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 chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
|
|
G |
F8 |
coagulation factor VIII |
|
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 chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
|
|
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 chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849
|
|
G |
Fam50a |
family with sequence similarity 50 member 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 chrNW_004955580:941,620...947,763
|
|
G |
Flna |
filamin 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 chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
|
|
G |
Fundc2 |
FUN14 domain containing 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 chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400
|
|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
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...
|
|
NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
|
|
G |
Gab3 |
GRB2 associated binding protein 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...
|
|
NCBI chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037
|
|
G |
Gdi1 |
GDP dissociation inhibitor 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...
|
|
NCBI chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081
|
|
G |
Haus7 |
HAUS augmin like complex subunit 7 |
|
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...
|
|
NCBI chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734
|
|
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 chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597
|
|
G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
|
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
|
|
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 chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
|
|
G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
|
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
|
|
G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory 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...
|
|
NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
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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 chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622
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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 chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
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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 chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617
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G |
LOC102021406 |
histone H2A |
|
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 chrNW_004955593:911,641...911,919
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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 chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
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G |
Mmp10 |
matrix metallopeptidase 10 |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chrNW_004955412:5,965,388...5,976,353
Ensembl chrNW_004955412:5,965,394...5,976,382
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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G |
Mpp1 |
MAGUK p55 scaffold 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 chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866
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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 chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142
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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 chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608
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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 chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
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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 chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917
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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 chrNW_004955424:22,799,568...22,830,718
Ensembl chrNW_004955424:22,799,568...22,830,718
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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 chrNW_004955454:6,097,251...6,115,430
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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 chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772
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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 chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445
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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 chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065
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G |
Rab39b |
RAB39B, member RAS oncogene family |
|
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 chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009
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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 chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
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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 chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439
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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 chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673
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G |
Slc6a8 |
solute carrier family 6 member 8 |
|
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 chrNW_004955580:419,696...426,727
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G |
Smim9 |
small integral membrane protein 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 chrNW_004955594:803,406...816,735
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
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NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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G |
Srpk3 |
SRSF protein kinase 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 chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709
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G |
Ssr4 |
signal sequence receptor subunit 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 chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
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 chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791
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G |
Tex28 |
testis expressed 28 |
|
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 chrNW_004955580:781,339...791,284
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
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G |
Tktl1 |
transketolase 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 chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
|
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 chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757
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G |
Trex2 |
three prime repair exonuclease 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 chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426
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G |
Ubl4a |
ubiquitin like 4A |
|
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 chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368
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G |
Vbp1 |
VHL binding 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 chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796
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G |
Zfp92 |
ZFP92 zinc finger 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 chrNW_004955580:185,250...197,329
Ensembl chrNW_004955580:190,538...193,967
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G |
Znf185 |
zinc finger protein 185 with LIM domain |
|
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 chrNW_004955498:8,185,997...8,248,910
Ensembl chrNW_004955498:8,185,994...8,253,209
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G |
Cabp4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:30718709 |
|
NCBI chrNW_004955422:18,023,639...18,028,845
Ensembl chrNW_004955422:18,023,639...18,028,845
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
OMIM ClinVar |
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 PMID:22183355 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28341476 PMID:28492532 PMID:28838317 PMID:30718709 PMID:30825406 More...
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NCBI chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364
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G |
Whrn |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:28492532 PMID:30718709 |
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NCBI chrNW_004955419:13,116,001...13,207,266
Ensembl chrNW_004955419:13,116,001...13,207,266
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G |
Slc16a2 |
solute carrier family 16 member 2 |
|
ISO |
ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy |
OMIM ClinVar |
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 chrNW_004955562:305,850...455,764
Ensembl chrNW_004955562:306,051...458,889
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G |
Elf4 |
E74 like ETS transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 |
OMIM ClinVar |
PMID:25741868 PMID:27932483 PMID:34326534 PMID:35266071 |
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NCBI chrNW_004955473:4,934,770...4,986,283
Ensembl chrNW_004955473:4,942,385...4,986,433
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: Mild hemophilia A |
ClinVar |
PMID:29357978 |
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NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
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G |
Arhgap4 |
Rho GTPase activating protein 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:586,986...600,299
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471
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G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734
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G |
Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
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G |
Bcap31 |
B cell receptor associated protein 31 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168
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G |
Bgn |
biglycan |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663
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G |
Brcc3 |
BRCA1/BRCA2-containing complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661
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G |
Ccnq |
cyclin Q |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435
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G |
Clic2 |
chloride intracellular channel 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389
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G |
Cmc4 |
C-X9-C motif containing 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
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G |
Dnase1l1 |
deoxyribonuclease 1 like 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria |
ClinVar |
PMID:1719174 PMID:9345098 PMID:9384614 PMID:9536098 PMID:10480214 PMID:11238270 PMID:11748843 PMID:11968085 PMID:14662265 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17576681 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23409742 PMID:23660394 PMID:24033266 PMID:24365856 PMID:24962355 PMID:25652404 PMID:25741868 PMID:26471271 PMID:26845103 PMID:28492532 PMID:29334594 PMID:30831263 PMID:31333075 PMID:31559736 PMID:31568572 More...
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NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243
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G |
Dusp9 |
dual specificity phosphatase 9 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455
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G |
Emd |
emerin |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849
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G |
Fam50a |
family with sequence similarity 50 member A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:941,620...947,763
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G |
Fkbp1a |
FKBP prolyl isomerase 1A |
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ISO |
OMIM:302060 |
MouseDO |
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NCBI chrNW_004955596:580,106...606,210
Ensembl chrNW_004955596:580,106...603,255
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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G |
Fundc2 |
FUN14 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria |
ClinVar |
PMID:1303182 PMID:5673160 PMID:6714978 PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15315792 PMID:15996881 PMID:16427346 PMID:16528451 PMID:16601897 PMID:16684786 PMID:18046504 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22293322 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:25741868 PMID:26471271 PMID:27535533 PMID:27880809 PMID:28492532 PMID:28583873 PMID:29300386 PMID:29334594 PMID:30097005 PMID:31609781 PMID:33069889 More...
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NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
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G |
Gab3 |
GRB2 associated binding protein 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081
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G |
Haus7 |
HAUS augmin like complex subunit 7 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734
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G |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
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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: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
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G |
Irak1 |
interleukin 1 receptor associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
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G |
Lage3 |
L antigen family member 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617
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G |
LOC102021406 |
histone H2A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955593:911,641...911,919
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G |
Mecp2 |
methyl-CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
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G |
Mest |
mesoderm specific transcript |
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ISO |
OMIM:302060 |
MouseDO |
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NCBI chrNW_004955479:11,116,705...11,135,061
Ensembl chrNW_004955479:11,122,007...11,135,061
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G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866
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G |
Mtcp1 |
mature T cell proliferation 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142
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G |
Naa10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
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G |
Pdzd4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917
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G |
Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772
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G |
Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445
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G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065
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G |
Rab39b |
RAB39B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009
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G |
Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
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G |
Rpl10 |
ribosomal protein L10 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439
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G |
Slc10a3 |
solute carrier family 10 member 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:419,696...426,727
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G |
Smim9 |
small integral membrane protein 9 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955594:803,406...816,735
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G |
Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709
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G |
Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II |
OMIM ClinVar |
PMID:972179 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345058 PMID:9345098 PMID:9382096 PMID:9382097 PMID:9384614 PMID:9536098 PMID:10480214 PMID:10484795 PMID:11238270 PMID:11735032 PMID:11748843 PMID:11896212 PMID:11968085 PMID:12032589 PMID:12468278 PMID:12529714 PMID:12930833 PMID:14654353 PMID:14662265 PMID:15098233 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16548007 PMID:16601897 PMID:16684786 PMID:16873891 PMID:16880272 PMID:16906470 PMID:17241629 PMID:17394203 PMID:17576681 PMID:17846786 PMID:19037987 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:19846429 PMID:20530761 PMID:20730588 PMID:20812380 PMID:21300850 PMID:21659346 PMID:21932011 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23031367 PMID:23206890 PMID:23345479 PMID:23361305 PMID:23409742 PMID:23606313 PMID:23656970 PMID:23660394 PMID:24033266 PMID:24342716 PMID:24365856 PMID:24813252 PMID:24887148 PMID:24962355 PMID:25112388 PMID:25652404 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26471271 PMID:26724946 PMID:26845103 PMID:26895103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:28855170 PMID:29077208 PMID:29089047 PMID:29247119 PMID:29334594 PMID:29476731 PMID:30122738 PMID:30471092 PMID:30831263 PMID:31333075 PMID:31559736 PMID:31568572 PMID:31647997 PMID:31737537 PMID:32619718 PMID:33500567 PMID:34906502 PMID:35104856 More...
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NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791
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G |
Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:781,339...791,284
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G |
Tktl1 |
transketolase like 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757
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G |
Trex2 |
three prime repair exonuclease 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426
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G |
Ubl4a |
ubiquitin like 4A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368
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G |
Vbp1 |
VHL binding protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796
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G |
Zfp92 |
ZFP92 zinc finger protein |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955580:185,250...197,329
Ensembl chrNW_004955580:190,538...193,967
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G |
Znf185 |
zinc finger protein 185 with LIM domain |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
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 chrNW_004955498:8,185,997...8,248,910
Ensembl chrNW_004955498:8,185,994...8,253,209
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G |
Phf6 |
PHD finger protein 6 |
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ISO |
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders |
OMIM 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:27698851 PMID:28492532 PMID:28539120 PMID:28554332 PMID:30630810 PMID:35662002 More...
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NCBI chrNW_004955473:527,005...586,589
Ensembl chrNW_004955473:527,005...586,627
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G |
Maoa |
amine oxidase [flavin-containing] A |
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ISO |
ClinVar Annotator: match by term: Brunner syndrome | ClinVar Annotator: match by term: MAOA-related condition |
OMIM ClinVar |
PMID:8211186 PMID:9536098 PMID:11700166 PMID:17296899 PMID:17576681 PMID:20340138 PMID:22382802 PMID:24169519 PMID:25741868 PMID:25807999 PMID:28492532 PMID:30452590 More...
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NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
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G |
Maob |
monoamine oxidase B |
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ISO |
ClinVar Annotator: match by term: Brunner syndrome |
ClinVar |
PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 PMID:30452590 More...
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NCBI chrNW_004955516:4,328,286...4,473,419
Ensembl chrNW_004955516:4,328,476...4,472,593
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G |
Ndp |
norrin cystine knot growth factor NDP |
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ISO |
ClinVar Annotator: match by term: Brunner syndrome |
ClinVar |
PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 PMID:30452590 More...
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NCBI chrNW_004955516:4,218,703...4,244,774
Ensembl chrNW_004955516:4,218,703...4,244,846
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G |
Cd40lg |
CD40 ligand |
disease_progression |
ISO |
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM |
OMIM ClinVar RGD |
PMID:21841160 PMID:25741868 |
RGD:5490298 |
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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G |
Aifm1 |
apoptosis inducing factor mitochondria associated 1 |
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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 |
OMIM 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 chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428
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G |
Rab33a |
RAB33A, member RAS oncogene family |
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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 chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177
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Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy |
OMIM ClinVar |
PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 PMID:25491489 PMID:25741868 PMID:28492532 PMID:32781272 PMID:33493137 More...
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NCBI chrNW_004955490:8,303,775...8,330,713
Ensembl chrNW_004955490:8,303,775...8,330,713
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Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: CK syndrome |
OMIM ClinVar |
PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
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Aifm1 |
apoptosis inducing factor mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy |
OMIM ClinVar |
PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 PMID:25741868 PMID:25986071 PMID:26173962 PMID:26467025 PMID:28492532 PMID:31850270 More...
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NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428
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Rab33a |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy |
ClinVar |
PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 PMID:25741868 PMID:25986071 PMID:26173962 PMID:26467025 PMID:28492532 PMID:31850270 More...
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NCBI chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177
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Magt1 |
magnesium transporter 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC |
OMIM ClinVar |
PMID:24550228 PMID:25135935 PMID:25741868 PMID:28492532 PMID:31036665 |
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NCBI chrNW_004955557:1,294,408...1,336,164
Ensembl chrNW_004955557:1,290,615...1,336,198
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Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y |
ClinVar |
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NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
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Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y |
ClinVar |
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NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445
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Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y |
ClinVar |
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NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709
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Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: CDG IY | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y |
OMIM ClinVar |
PMID:24218363 PMID:25326635 PMID:25741868 PMID:26264460 |
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NCBI chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498
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Irs4 |
insulin receptor substrate 4 |
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ISO |
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 |
OMIM ClinVar |
PMID:25741868 PMID:30061370 |
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NCBI chrNW_004955490:7,135,969...7,139,802
Ensembl chrNW_004955490:7,135,969...7,139,802
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Nyx |
nyctalopin |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 1A | ClinVar Annotator: match by term: NYX-related condition |
OMIM ClinVar |
PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:19578023 PMID:23406521 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004955565:1,258,724...1,262,283
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Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2 |
OMIM ClinVar |
PMID:9529339 PMID:9662399 PMID:9662400 PMID:10900517 PMID:11281458 PMID:12111638 PMID:12187427 PMID:12719097 PMID:15807819 PMID:15897456 PMID:16199547 PMID:17525176 PMID:17949918 PMID:19578023 PMID:22183355 PMID:22194652 PMID:23714322 PMID:24033266 PMID:24051672 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28041643 PMID:28492532 PMID:28838317 PMID:30576320 PMID:30718709 PMID:30825406 PMID:33037074 PMID:36909829 More...
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NCBI chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364
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Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: Dent disease | ClinVar Annotator: match by term: Dent's disease |
ClinVar |
PMID:11136179 PMID:15719255 PMID:15814539 PMID:15895257 PMID:16822791 PMID:18038239 PMID:19076289 PMID:19546586 PMID:22876375 PMID:24081861 PMID:25741868 PMID:25907713 PMID:27889724 PMID:28492532 PMID:31672324 PMID:32683654 More...
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NCBI chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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Ocrl |
OCRL inositol polyphosphate-5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Dent disease |
ClinVar |
PMID:15108291 PMID:21031565 PMID:21971085 PMID:27398910 PMID:29300302 |
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NCBI chrNW_004955473:5,429,084...5,482,377
Ensembl chrNW_004955473:5,431,395...5,482,385
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Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED | ClinVar Annotator: match by term: Nephrolithiasis 2 |
OMIM ClinVar |
PMID:7874126 PMID:7915957 PMID:8559248 PMID:8950885 PMID:9062355 PMID:9187673 PMID:9259268 PMID:9328929 PMID:9734595 PMID:9853249 PMID:10469281 PMID:10906159 PMID:11136179 PMID:12637640 PMID:14569459 PMID:15052463 PMID:15086899 PMID:15719255 PMID:15895257 PMID:16041495 PMID:16247550 PMID:16822791 PMID:16861240 PMID:18038239 PMID:18184518 PMID:19076289 PMID:19546586 PMID:19546591 PMID:19657328 PMID:19673950 PMID:19806368 PMID:21305656 PMID:22876375 PMID:24081861 PMID:25001568 PMID:25326635 PMID:25741868 PMID:25907713 PMID:26822237 PMID:27117801 PMID:27889724 PMID:28492532 PMID:28580211 PMID:30773290 PMID:31328266 PMID:31672324 PMID:31674016 PMID:31852738 PMID:32201916 PMID:32289351 PMID:32683654 PMID:33532864 PMID:35738466 More...
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NCBI chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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Inpp5b |
inositol polyphosphate-5-phosphatase B |
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ISO |
ClinVar Annotator: match by term: Dent disease type 2 |
ClinVar |
PMID:28018608 |
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NCBI chrNW_004955452:15,628,852...15,682,514
Ensembl chrNW_004955452:15,629,724...15,681,754
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Ocrl |
OCRL inositol polyphosphate-5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Dent disease type 2 |
OMIM ClinVar |
PMID:1321346 PMID:8504307 PMID:15627218 PMID:16381338 PMID:17162149 PMID:17384968 PMID:19390221 PMID:21031565 PMID:22381590 PMID:23047739 PMID:24081861 PMID:25480730 PMID:25741868 PMID:26694549 PMID:27625797 PMID:27708066 PMID:28018608 PMID:28492532 PMID:28803024 PMID:31674016 PMID:34125233 PMID:34139759 More...
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NCBI chrNW_004955473:5,429,084...5,482,377
Ensembl chrNW_004955473:5,431,395...5,482,385
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Abca3 |
ATP binding cassette subfamily A member 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:14,933,550...14,989,492
Ensembl chrNW_004955442:14,933,550...14,989,492
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Aldh7a1 |
aldehyde dehydrogenase 7 family member A1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:23953072 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129
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Alg13 |
ALG13 UDP-N-acetylglucosaminyltransferase subunit |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955490:4,069,866...4,140,494
Ensembl chrNW_004955490:4,069,494...4,140,532
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Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:35638461 |
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NCBI chrNW_004955475:4,020,922...4,214,464
Ensembl chrNW_004955475:4,017,632...4,214,563
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Arx |
aristaless related homeobox |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
OMIM ClinVar |
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12177367 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12379852 PMID:12640086 PMID:12874418 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15726411 PMID:15850492 PMID:16078051 PMID:16199547 PMID:16235064 PMID:16523516 PMID:16995578 PMID:17331656 PMID:17480217 PMID:17490853 PMID:17576681 PMID:17641262 PMID:17664401 PMID:17668384 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19507262 PMID:19606478 PMID:19738637 PMID:20148114 PMID:20300201 PMID:20506206 PMID:21108397 PMID:21204215 PMID:21204226 PMID:21496008 PMID:22252899 PMID:22922607 PMID:23039062 PMID:23246292 PMID:23757202 PMID:24643514 PMID:24781210 PMID:25741868 PMID:26029707 PMID:26337422 PMID:26467025 PMID:28174645 PMID:28387369 PMID:28492532 PMID:29152528 PMID:29778428 PMID:30108342 PMID:30255221 PMID:31145546 PMID:31324350 PMID:31623504 PMID:31691806 PMID:31791873 PMID:32139178 PMID:32313153 PMID:32383243 PMID:32613771 PMID:33951346 PMID:35121198 More...
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NCBI chrNW_004955509:5,326,145...5,338,250
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Bricd5 |
BRICHOS domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:15,054,116...15,056,506
Ensembl chrNW_004955442:15,055,513...15,060,526
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Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595
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Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32820246 PMID:33497533 |
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NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
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Caskin1 |
CASK interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:15,075,427...15,092,786
Ensembl chrNW_004955442:15,030,219...15,092,786
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Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 More...
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NCBI chrNW_004955442:14,864,935...14,890,802
Ensembl chrNW_004955442:14,865,954...14,890,709
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Cdkl5 |
cyclin dependent kinase like 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485
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Cfap96 |
cilia and flagella associated protein 96 |
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ISO |
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chrNW_004955403:23,617,764...23,634,689
Ensembl chrNW_004955403:23,619,399...23,634,731
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Chd2 |
chromodomain helicase DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321
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Csnk1e |
casein kinase 1 epsilon |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
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NCBI chrNW_004955413:24,560,889...24,591,669
Ensembl chrNW_004955413:24,560,900...24,591,669
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Dnase1l2 |
deoxyribonuclease 1 like 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:15,028,168...15,031,110
Ensembl chrNW_004955442:15,028,168...15,031,110
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Dnm1 |
dynamin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:30097719 PMID:32909139 PMID:36413998 |
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NCBI chrNW_004955570:752,335...781,770
Ensembl chrNW_004955570:752,335...781,770
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E4f1 |
E4F transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:15,031,210...15,041,437
Ensembl chrNW_004955442:15,030,363...15,041,877
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Eci1 |
enoyl-CoA delta isomerase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:15,010,412...15,027,014
Ensembl chrNW_004955442:15,010,412...15,027,014
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Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955533:2,879,437...2,938,952
Ensembl chrNW_004955533:2,573,599...2,938,952
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Gnao1 |
G protein subunit alpha o1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955433:14,004,813...14,170,631
Ensembl chrNW_004955433:14,004,813...14,172,707
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Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955513:5,154,864...5,178,636
Ensembl chrNW_004955513:5,154,864...5,178,636
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Hcn1 |
hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24747641 |
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NCBI chrNW_004955446:17,146,915...17,457,843
Ensembl chrNW_004955446:17,151,311...17,457,888
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Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
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NCBI chrNW_004955406:8,000,269...8,021,554
Ensembl chrNW_004955406:8,000,269...8,021,554
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Itpa |
inosine triphosphatase |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:26224535 PMID:28492532 |
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NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
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Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 More...
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NCBI chrNW_004955435:14,074,346...14,080,026
Ensembl chrNW_004955435:14,074,346...14,078,806
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Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:14534157 PMID:23692823 PMID:25741868 PMID:27779742 PMID:28492532 |
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NCBI chrNW_004955528:737,416...792,885
Ensembl chrNW_004955528:737,416...791,321
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Maf |
MAF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24369382 PMID:24456803 PMID:25411445 PMID:25741868 PMID:26467025 PMID:27959697 PMID:28492532 PMID:29358611 PMID:29390993 PMID:30356099 PMID:31130284 PMID:31780880 PMID:31957018 More...
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NCBI chrNW_004955522:2,514,313...2,519,694
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Mlst8 |
MTOR associated protein, LST8 homolog |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:15,056,363...15,060,300
Ensembl chrNW_004955442:15,056,363...15,060,300
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G |
Napb |
NSF attachment protein beta |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:33189936 |
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NCBI chrNW_004955415:30,392,692...30,427,773
Ensembl chrNW_004955415:30,392,165...30,427,773
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Nrxn2 |
neurexin 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
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NCBI chrNW_004955422:20,444,109...20,551,870
Ensembl chrNW_004955422:20,391,722...20,551,870
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Ntn3 |
netrin 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:14,838,076...14,840,857
Ensembl chrNW_004955442:14,838,076...14,840,857
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Pacs2 |
phosphofurin acidic cluster sorting protein 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:26626314 PMID:28135719 PMID:28191890 PMID:28492532 PMID:28628100 PMID:28867141 PMID:29656858 PMID:30290155 PMID:30904718 PMID:31036916 PMID:31231135 PMID:32416568 PMID:33243487 PMID:34782754 More...
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NCBI chrNW_004955538:3,559,738...3,616,862
Ensembl chrNW_004955538:3,559,724...3,619,649
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Pcdh19 |
protocadherin 19 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253
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Pcyt1b |
phosphate cytidylyltransferase 1B, choline |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
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NCBI chrNW_004955509:4,896,208...4,990,101
Ensembl chrNW_004955509:4,896,190...4,990,149
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Pdk3 |
pyruvate dehydrogenase kinase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
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NCBI chrNW_004955509:4,809,422...4,888,802
Ensembl chrNW_004955509:4,809,399...4,878,976
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Pgp |
phosphoglycolate phosphatase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:15,051,149...15,053,123
Ensembl chrNW_004955442:15,051,183...15,052,289
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Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377
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Plcb1 |
phospholipase C beta 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955415:18,210,608...18,915,099
Ensembl chrNW_004955415:18,210,662...18,915,158
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Pola1 |
DNA polymerase alpha 1, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
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NCBI chrNW_004955509:5,007,385...5,319,683
Ensembl chrNW_004955509:5,007,182...5,319,894
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Rab26 |
RAB26, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:15,114,333...15,119,481
Ensembl chrNW_004955442:15,114,333...15,120,123
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Reps2 |
RALBP1 associated Eps domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955519:1,131,027...1,358,313
Ensembl chrNW_004955519:1,136,519...1,358,313
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Rnps1 |
RNA binding protein with serine rich domain 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:14,995,404...15,009,358
Ensembl chrNW_004955442:14,995,404...15,009,358
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Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:11940708 PMID:12083760 PMID:16458823 PMID:17347258 PMID:18930999 PMID:20522430 PMID:21248271 PMID:22151702 PMID:23195492 PMID:23808377 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26544041 PMID:28079314 PMID:28387369 PMID:28492532 PMID:29100083 PMID:30619928 PMID:31864146 PMID:32056211 PMID:32090326 PMID:35571373 More...
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NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
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Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
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Slc25a12 |
solute carrier family 25 member 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737
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St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955537:3,258,076...3,458,742
Ensembl chrNW_004955537:3,258,076...3,458,742
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Synj1 |
synaptojanin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955407:32,094,076...32,175,676
Ensembl chrNW_004955407:32,093,479...32,175,795
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Szt2 |
SZT2 subunit of KICSTOR complex |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955537:2,968,839...3,017,863
Ensembl chrNW_004955537:2,968,839...3,017,863
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Tbc1d24 |
TBC1 domain family member 24 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms |
ClinVar |
PMID:3402014 PMID:9536098 PMID:10574461 PMID:10741954 PMID:16199547 PMID:16855591 PMID:17576681 PMID:18414213 PMID:20727515 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24729539 PMID:24729547 PMID:24848745 PMID:25169651 PMID:25326637 PMID:25401298 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:27669036 PMID:27784474 PMID:28072960 PMID:28252636 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:28726039 PMID:29100083 PMID:29176366 PMID:29358611 PMID:29429257 PMID:29655203 PMID:29671961 PMID:29933521 PMID:30108545 PMID:30139988 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30680869 PMID:30776697 PMID:30866059 PMID:31112829 PMID:31216405 PMID:31257402 PMID:31618474 PMID:31780880 PMID:31922275 PMID:32004315 PMID:32369273 PMID:32581362 PMID:32860223 PMID:33063868 PMID:33229591 PMID:33281559 PMID:33333793 PMID:33619735 PMID:33726816 PMID:33986365 PMID:34020146 More...
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NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
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Tedc2 |
tubulin epsilon and delta complex 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:14,856,517...14,862,391
Ensembl chrNW_004955442:14,856,269...14,862,338
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Traf7 |
TNF receptor associated factor 7 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:15,092,955...15,112,842
Ensembl chrNW_004955442:15,092,955...15,112,840
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Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
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Ufsp2 |
UFM1 specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chrNW_004955403:23,634,967...23,655,429
Ensembl chrNW_004955403:23,634,924...23,655,429
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Wwox |
WW domain containing oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms |
ClinVar |
PMID:9536098 PMID:11572989 PMID:11956080 PMID:16199547 PMID:17576681 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24369382 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25640679 PMID:25741868 PMID:26077850 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27717089 PMID:27848944 PMID:27884173 PMID:27959697 PMID:28130116 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29808465 PMID:29852413 PMID:29905011 PMID:30356099 PMID:30746283 PMID:30853297 PMID:30919572 PMID:31130284 PMID:31216405 PMID:31618474 PMID:31623504 PMID:31780880 PMID:31957018 PMID:35573960 PMID:35701389 More...
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NCBI chrNW_004955522:1,265,732...2,185,372
Ensembl chrNW_004955522:1,265,404...2,184,562
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G |
Amer1 |
APC membrane recruitment protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955475:4,451,094...4,470,750
Ensembl chrNW_004955475:4,463,023...4,466,406
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Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 8 |
OMIM ClinVar |
PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 PMID:17893116 PMID:18414213 PMID:18615734 PMID:21633362 PMID:21731583 PMID:22612257 PMID:23033978 PMID:25568878 PMID:25678704 PMID:25741868 PMID:26467025 PMID:26834553 PMID:27238888 PMID:28492532 PMID:28589176 PMID:28620718 PMID:28708303 PMID:29130122 PMID:30914922 PMID:31054490 PMID:31069529 PMID:32005694 PMID:32593896 PMID:32860008 PMID:32939676 PMID:33860439 PMID:35638461 More...
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NCBI chrNW_004955475:4,020,922...4,214,464
Ensembl chrNW_004955475:4,017,632...4,214,563
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Asb12 |
ankyrin repeat and SOCS box containing 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955475:4,429,854...4,436,633
Ensembl chrNW_004955475:4,433,390...4,437,337
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Mtmr8 |
myotubularin related protein 8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955475:4,358,264...4,391,349
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Zc4h2 |
zinc finger C4H2-type containing |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955475:4,569,263...4,604,571
Ensembl chrNW_004955475:4,568,005...4,604,577
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Tsr2 |
TSR2 ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis |
OMIM ClinVar |
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955475:1,698,926...1,703,404
Ensembl chrNW_004955475:1,698,136...1,703,404
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Akap6 |
A-kinase anchoring protein 6 |
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ISO |
mRNA:decreased expression:heart |
RGD |
PMID:14511675 |
RGD:14349026 |
NCBI chrNW_004955409:28,067,814...28,516,881
Ensembl chrNW_004955409:28,077,621...28,516,944
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Cd4 |
CD4 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21641384 |
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NCBI chrNW_004955413:4,400,326...4,422,110
Ensembl chrNW_004955413:4,408,390...4,421,535
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Dag1 |
dystroglycan 1 |
|
ISO |
protein:decreased expression:skeletal muscle protein:increased degradation:skeletal muscle |
RGD |
PMID:7630355 PMID:11445638 PMID:15833425 |
RGD:11073211 RGD:11537476 RGD:11552581 |
NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312
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Dmd |
dystrophin |
treatment |
ISO |
ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy |
OMIM ClinVar RGD |
PMID:1301174 PMID:1301934 PMID:1307253 PMID:1363782 PMID:1383546 PMID:1496988 PMID:1513469 PMID:1549596 PMID:1601417 PMID:1785409 PMID:1864612 PMID:1868831 PMID:1889805 PMID:2040695 PMID:2063877 PMID:2071150 PMID:2136098 PMID:2261642 PMID:2316519 PMID:2354438 PMID:2383276 PMID:2573997 PMID:2691353 PMID:3393617 PMID:7041906 PMID:7496177 PMID:7581396 PMID:7599634 PMID:7599638 PMID:7611292 PMID:7649554 PMID:7668256 PMID:7747792 PMID:7825571 PMID:7825572 PMID:7849724 PMID:7853367 PMID:7881286 PMID:7897627 PMID:7951251 PMID:7951253 PMID:7981590 PMID:7981690 PMID:8004097 PMID:8034300 PMID:8149204 PMID:8160755 PMID:8199594 PMID:8281150 PMID:8301652 PMID:8317478 PMID:8353493 PMID:8361506 PMID:8364587 PMID:8401539 PMID:8401582 PMID:8413368 PMID:8423832 PMID:8429320 PMID:8452597 PMID:8499922 PMID:8533818 PMID:8543940 PMID:8589698 PMID:8628480 PMID:8784808 PMID:8789442 PMID:8817332 PMID:8840114 PMID:8840119 PMID:9007319 PMID:9028449 PMID:9040743 PMID:9067763 PMID:9143930 PMID:9170407 PMID:9195228 PMID:9225508 PMID:9298822 PMID:9441825 PMID:9447607 PMID:9470882 PMID:9536098 PMID:9544849 PMID:9619643 PMID:9628192 PMID:9760747 PMID:9800909 PMID:9805122 PMID:9937601 PMID:10094565 PMID:10196701 PMID:10320864 PMID:10392746 PMID:10464635 PMID:10465346 PMID:10480348 PMID:10533061 PMID:10541573 PMID:10612827 PMID:10722962 PMID:10832829 PMID:10841222 PMID:10909857 PMID:11039581 PMID:11185740 PMID:11241855 PMID:11257468 PMID:11381192 PMID:11388892 PMID:11409318 PMID:11524473 PMID:11710958 PMID:12111668 PMID:12123485 PMID:12233050 PMID:12324874 PMID:12354438 PMID:12359139 PMID:12398835 PMID:12467752 PMID:12632325 PMID:12673664 PMID:12674656 PMID:12754415 PMID:12754707 PMID:12794683 PMID:12920092 PMID:13679720 PMID:14514278 PMID:14641995 PMID:14652441 PMID:14659407 PMID:14695533 PMID:14961551 PMID:14962982 PMID:14973546 PMID:14977063 PMID:15038390 PMID:15253946 PMID:15319032 PMID:15351422 PMID:15528988 PMID:15637982 PMID:15643612 PMID:15655674 PMID:15684864 PMID:15723292 PMID:15841391 PMID:15845029 PMID:15952989 PMID:15976104 PMID:15979033 PMID:16030524 PMID:16049303 PMID:16077730 PMID:16199547 PMID:16331671 PMID:16439068 PMID:16566881 PMID:16770791 PMID:16834926 PMID:16883524 PMID:16917894 PMID:16936400 PMID:16950195 PMID:17024373 PMID:17041906 PMID:17124406 PMID:17145200 PMID:17253928 PMID:17259292 PMID:17380674 PMID:17435279 PMID:17561468 PMID:17576681 PMID:17680544 PMID:17726484 PMID:17826093 PMID:17854090 PMID:17880784 PMID:17952667 PMID:18054699 PMID:18055393 PMID:18059005 PMID:18261911 PMID:18348289 PMID:18353051 PMID:18393226 PMID:18403565 PMID:18445268 PMID:18583217 PMID:18646563 PMID:18652600 PMID:18653336 PMID:18663755 PMID:18683213 PMID:18752307 PMID:18853462 PMID:18974567 PMID:19001018 PMID:19040728 PMID:19065519 PMID:19073314 PMID:19074751 PMID:19084397 PMID:19158079 PMID:19206170 PMID:19230662 PMID:19309270 PMID:19367636 PMID:19409785 PMID:19449031 PMID:19449433 PMID:19461958 PMID:19530190 PMID:19602481 PMID:19730022 PMID:19760747 PMID:19763152 PMID:19783145 PMID:19793655 PMID:19823873 PMID:19835634 PMID:19837995 PMID:19907931 PMID:19937601 PMID:19959795 PMID:20031633 PMID:20036901 PMID:20098710 PMID:20153965 PMID:20307669 PMID:20381484 PMID:20457930 PMID:20485447 PMID:20630757 PMID:20683981 PMID:20696926 PMID:20847377 PMID:20944443 PMID:21104870 PMID:21150048 PMID:21180173 PMID:21228398 PMID:21273767 PMID:21396098 PMID:21399986 PMID:21402533 PMID:21515508 PMID:21520333 PMID:21525508 PMID:21550932 PMID:21815800 PMID:21851881 PMID:21896784 PMID:21969337 PMID:21972111 PMID:22090376 PMID:22092019 PMID:22102647 PMID:22144684 PMID:22161109 PMID:22182525 PMID:22223181 PMID:22234188 PMID:22234189 PMID:22369279 PMID:22379338 PMID:22406018 PMID:22510846 PMID:22678781 PMID:22776072 PMID:22894145 PMID:22910583 PMID:22980762 PMID:23092449 PMID:23224783 PMID:23251671 PMID:23276443 PMID:23299917 PMID:23299919 PMID:23349452 PMID:23352160 PMID:23438214 PMID:23440719 PMID:23453023 PMID:23536893 PMID:23588064 PMID:23667215 PMID:23695957 PMID:23756440 PMID:23757202 PMID:23818053 PMID:23829870 PMID:23871722 PMID:23914114 PMID:24010700 PMID:24033266 PMID:24055113 PMID:24066114 PMID:24099565 PMID:24123366 PMID:24217213 PMID:24236769 PMID:24265581 PMID:24274981 PMID:24292997 PMID:24300647 PMID:24302611 PMID:24349052 PMID:24504883 PMID:24505439 PMID:24690944 PMID:24770780 PMID:24835530 PMID:24871807 PMID:24892813 PMID:24928015 PMID:25007885 PMID:25056178 PMID:25076844 PMID:25108525 PMID:25133751 PMID:25163546 PMID:25193336 PMID:25214167 PMID:25227141 PMID:25231023 PMID:25244321 PMID:25326637 PMID:25333069 PMID:25340340 PMID:25348330 PMID:25353622 PMID:25434822 PMID:25447171 PMID:25474345 PMID:25482253 PMID:25525159 PMID:25612904 PMID:25636106 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25761239 PMID:25937795 PMID:25972034 PMID:26046366 PMID:26066469 PMID:26081009 PMID:26110187 PMID:26140716 PMID:26260725 PMID:26272908 PMID:26284620 PMID:26350204 PMID:26365249 PMID:26392559 PMID:26455815 PMID:26467025 PMID:26594346 PMID:26676145 PMID:26718981 PMID:26735901 PMID:26740235 PMID:26743743 PMID:26745801 PMID:26836830 PMID:26911353 PMID:26934379 PMID:26951757 PMID:26968818 PMID:26990548 PMID:27009627 PMID:27122458 PMID:27135274 PMID:27178005 PMID:27206868 PMID:27234031 PMID:27263301 PMID:27290639 PMID:27350676 PMID:27363342 PMID:27425820 PMID:27515321 PMID:27582364 PMID:27593222 PMID:27708273 PMID:27750387 PMID:27854212 PMID:27854218 PMID:27896284 PMID:27898983 PMID:27930565 PMID:28100912 PMID:28116794 PMID:28181471 PMID:28181689 PMID:28247318 PMID:28318817 PMID:28332368 PMID:28407826 PMID:28416588 PMID:28492532 PMID:28495050 PMID:28503591 PMID:28526893 PMID:28569743 PMID:28610567 PMID:28701297 PMID:28750076 PMID:28777860 PMID:28798025 PMID:28859693 PMID:28878337 PMID:28878402 PMID:29016797 PMID:29188604 PMID:29196072 PMID:29246534 PMID:29261181 PMID:29304097 PMID:29365344 PMID:29386531 PMID:29390271 PMID:29511324 PMID:29517769 PMID:29578119 PMID:29581631 PMID:29604111 PMID:29610182 PMID:29641567 PMID:29778277 PMID:29792937 PMID:29847600 PMID:29874176 PMID:29892087 PMID:29901616 PMID:29961767 PMID:29970176 PMID:29973226 PMID:30086531 PMID:30275481 PMID:30293248 PMID:30342905 PMID:30406066 PMID:30415094 PMID:30467404 PMID:30564623 PMID:30816495 PMID:30827497 PMID:30833962 PMID:30907348 PMID:30938079 PMID:30944907 PMID:31069529 PMID:31081998 PMID:31127727 PMID:31139960 PMID:31197268 PMID:31216405 PMID:31302907 PMID:31333075 PMID:31379145 PMID:31397097 PMID:31404137 PMID:31412794 PMID:31443951 PMID:31475473 PMID:31514951 PMID:31568572 PMID:31648988 PMID:31661024 PMID:31671740 PMID:31690835 PMID:31705731 PMID:31706698 PMID:31708335 PMID:31719299 PMID:31727011 PMID:31737537 PMID:31919629 PMID:31983221 PMID:32013268 PMID:32047267 PMID:32055135 PMID:32169422 PMID:32176650 PMID:32194622 PMID:32358784 PMID:32403337 PMID:32419263 PMID:32488064 PMID:32528171 PMID:32559196 PMID:32669210 PMID:32746448 PMID:32813700 PMID:32860008 PMID:32906206 PMID:32962870 PMID:32969603 PMID:33029525 PMID:33101180 PMID:33106653 PMID:33144682 PMID:33238405 PMID:33250842 PMID:33420945 PMID:33644936 PMID:33773883 PMID:33829027 PMID:33843695 PMID:34008892 PMID:34103343 PMID:34106991 PMID:34268379 PMID:34297739 PMID:34327855 PMID:34404389 PMID:34629887 PMID:34906502 PMID:34950096 PMID:35135626 PMID:35165973 PMID:35428841 PMID:36315559 PMID:36409343 More...
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RGD:12880007 |
NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
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G |
Gk |
glycerol kinase |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:28492532 PMID:31705731 More...
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NCBI chrNW_004955531:106,761...183,347
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G |
Itga7 |
integrin subunit alpha 7 |
treatment |
ISO |
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RGD |
PMID:23319059 |
RGD:13601981 |
NCBI chrNW_004955458:3,322,735...3,343,275
Ensembl chrNW_004955458:3,321,259...3,343,275
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
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RGD |
PMID:23977226 |
RGD:13204809 |
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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G |
Nos1 |
nitric oxide synthase 1 |
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ISO |
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RGD |
PMID:9542584 |
RGD:13825135 |
NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
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G |
Nr0b1 |
nuclear receptor subfamily 0 group B member 1 |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:28492532 PMID:31705731 More...
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NCBI chrNW_004955531:567,491...572,329
Ensembl chrNW_004955531:567,173...572,331
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G |
Pkp2 |
plakophilin 2 |
|
ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 PMID:33919104 More...
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NCBI chrNW_004955505:2,878,001...2,959,299
Ensembl chrNW_004955505:2,878,081...2,958,404
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G |
Pla2g6 |
phospholipase A2 group VI |
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ISO |
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RGD |
PMID:22934738 |
RGD:12910703 |
NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537
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G |
Postn |
periostin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21641384 |
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NCBI chrNW_004955431:8,510,646...8,544,901
Ensembl chrNW_004955431:8,510,624...8,544,971
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G |
Snta1 |
syntrophin alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955422:27,844,699...27,872,104
Ensembl chrNW_004955422:27,844,853...27,871,547
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G |
Stx1b |
syntaxin 1B |
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ISO |
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RGD |
PMID:26604869 |
RGD:12903957 |
NCBI chrNW_004955493:7,838,684...7,857,700
Ensembl chrNW_004955493:7,838,684...7,857,700
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G |
Stxbp1 |
syntaxin binding protein 1 |
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ISO |
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RGD |
PMID:26604869 |
RGD:12903957 |
NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759
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G |
Tab3 |
TGF-beta activated kinase 1 (MAP3K7) binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:28492532 PMID:31705731 More...
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NCBI chrNW_004955535:3,547,556...3,612,705
Ensembl chrNW_004955535:3,585,243...3,612,790
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G |
Tasl |
TLR adaptor interacting with endolysosomal SLC15A4 |
|
ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:28492532 PMID:31705731 More...
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NCBI chrNW_004955531:207,614...293,127
Ensembl chrNW_004955531:267,216...293,127
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G |
Tgfb1 |
transforming growth factor beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21641384 |
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NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
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ISO |
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RGD |
PMID:15616792 |
RGD:1580161 |
NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820
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G |
Utrn |
utrophin |
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ISO |
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RGD |
PMID:9288751 |
RGD:737706 |
NCBI chrNW_004955436:15,730,416...16,237,379
Ensembl chrNW_004955436:15,730,020...16,231,919
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G |
Eda |
ectodysplasin A |
|
ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
OMIM ClinVar |
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10469321 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12947561 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18688569 PMID:18821982 PMID:19278982 PMID:19438931 PMID:19504606 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:19960895 PMID:20077893 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23687000 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24631698 PMID:24648697 PMID:24689965 PMID:24715423 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25640679 PMID:25741868 PMID:25846883 PMID:26273176 PMID:26345974 PMID:26411740 PMID:26502894 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27264909 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:29676859 PMID:30088137 PMID:30117778 PMID:31129666 PMID:31306530 PMID:31489414 PMID:31652981 PMID:31796081 PMID:31852928 PMID:31924237 PMID:33205897 PMID:33502802 PMID:33943035 PMID:34573371 PMID:34863015 PMID:34906502 PMID:35023123 PMID:36071541 PMID:36294409 More...
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NCBI chrNW_004955475:9,177,911...9,592,150
Ensembl chrNW_004955475:9,178,234...9,588,440
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G |
Eda2r |
ectodysplasin A2 receptor |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
ClinVar |
PMID:22889853 |
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NCBI chrNW_004955475:6,080,153...6,143,339
Ensembl chrNW_004955475:6,087,687...6,143,432
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G |
Mvk |
mevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
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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: Ectodermal dysplasia and immunodeficiency 1 |
OMIM ClinVar |
PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 More...
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NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
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G |
Mcfd2 |
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit |
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ISO |
ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2 |
OMIM ClinVar |
PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:31064749 |
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NCBI chrNW_004955441:13,766,683...13,776,305
Ensembl chrNW_004955441:13,764,144...13,777,628
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G |
C3 |
complement C3 |
|
ISO |
protein:increased expression:blood |
RGD |
PMID:6912882 |
RGD:11041156 |
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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G |
Cd40lg |
CD40 ligand |
treatment |
ISO |
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RGD |
PMID:11776297 |
RGD:11352263 |
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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G |
Cfb |
complement factor B |
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ISO |
protein:increased expression:blood |
RGD |
PMID:6912882 |
RGD:11041156 |
NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464
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G |
Cfp |
complement factor properdin |
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ISO |
protein:increased expression:blood |
RGD |
PMID:6912882 |
RGD:11041156 |
NCBI chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492
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G |
F2 |
coagulation factor II, thrombin |
treatment |
ISO |
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RGD |
PMID:26635073 |
RGD:11565076 |
NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
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G |
F7 |
coagulation factor VII |
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ISO |
ClinVar Annotator: match by term: Hemophilia |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955404:685,170...692,797
Ensembl chrNW_004955404:680,594...693,665
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G |
F8 |
coagulation factor VIII |
treatment |
ISO |
ClinVar Annotator: match by term: F8-related condition | ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital | ClinVar Annotator: match by term: Hemophilia, classic |
OMIM ClinVar RGD |
PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1412186 PMID:1523102 PMID:1559571 PMID:1569180 PMID:1569181 PMID:1639429 PMID:1643024 PMID:1671991 PMID:1840568 PMID:1851341 PMID:1908096 PMID:1908817 PMID:1923751 PMID:1924291 PMID:1969840 PMID:1973901 PMID:1979502 PMID:2104741 PMID:2104766 PMID:2105106 PMID:2105906 PMID:2106480 PMID:2107542 PMID:2109644 PMID:2110545 PMID:2121026 PMID:2121641 PMID:2125022 PMID:2159433 PMID:2473810 PMID:2493803 PMID:2495245 PMID:2498882 PMID:2506948 PMID:2510835 PMID:2563431 PMID:2567219 PMID:2831458 PMID:2833855 PMID:2835307 PMID:2861360 PMID:2887317 PMID:2901224 PMID:2907841 PMID:2986011 PMID:2987704 PMID:2993888 PMID:3035554 PMID:3097553 PMID:3122181 PMID:3131627 PMID:3137981 PMID:6253938 PMID:6438527 PMID:7579394 PMID:7662970 PMID:7728145 PMID:7794769 PMID:7959679 PMID:7984443 PMID:8011517 PMID:8052958 PMID:8054459 PMID:8069313 PMID:8281136 PMID:8307558 PMID:8322269 PMID:8449505 PMID:8485051 PMID:8490618 PMID:8497853 PMID:8547094 PMID:8576960 PMID:8584995 PMID:8639447 PMID:8644728 PMID:8759905 PMID:9184393 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9594277 PMID:9792405 PMID:9829908 PMID:9886318 PMID:10215414 PMID:10338101 PMID:10404764 PMID:10468616 PMID:10519986 PMID:10609755 PMID:10896236 PMID:10910910 PMID:10910913 PMID:11102988 PMID:11110718 PMID:11179760 PMID:11189482 PMID:11251334 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11554935 PMID:11713379 PMID:11748850 PMID:11843836 PMID:11857744 PMID:11858487 PMID:12139751 PMID:12204009 PMID:12325022 PMID:12351418 PMID:12406074 PMID:12871415 PMID:12884004 PMID:15471879 PMID:15569173 PMID:15625837 PMID:15670040 PMID:15710596 PMID:15735794 PMID:15741993 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16128892 PMID:16173970 PMID:16601827 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17209060 PMID:17222201 PMID:17445092 PMID:17498081 PMID:17550859 PMID:17610549 PMID:17610560 PMID:18034822 PMID:18184865 PMID:18217193 PMID:18299331 PMID:18371163 PMID:18387975 PMID:18403393 PMID:18479430 PMID:18565236 PMID:18600086 PMID:18691168 PMID:19369668 PMID:19377476 PMID:19448530 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19719548 PMID:19719828 PMID:19740093 PMID:20028422 PMID:20102490 PMID:20108389 PMID:20148980 PMID:20193250 PMID:20300295 PMID:20301578 PMID:20331753 PMID:20331761 PMID:20431853 PMID:20533009 PMID:20536985 PMID:20800587 PMID:20860608 PMID:21070499 PMID:21217077 PMID:21371196 PMID:21462120 PMID:21645180 PMID:21645224 PMID:21645226 PMID:21689372 PMID:21751985 PMID:21838755 PMID:21883705 PMID:21910785 PMID:22103590 PMID:22117735 PMID:22759210 PMID:22958177 PMID:23534532 PMID:23551875 PMID:23625609 PMID:23711237 PMID:23711294 PMID:23809411 PMID:23812942 PMID:23913812 PMID:23926300 PMID:23961341 PMID:23963097 PMID:24033266 PMID:24086941 PMID:24108539 PMID:24118398 PMID:24134483 PMID:24845853 PMID:24953131 PMID:24975702 PMID:25326637 PMID:25628142 PMID:25708597 PMID:25741868 PMID:25741908 PMID:25824987 PMID:25854144 PMID:25948085 PMID:25955082 PMID:26308136 PMID:26383047 PMID:26879396 PMID:26897466 PMID:27292088 PMID:27868395 PMID:28252515 PMID:28492532 PMID:29296726 PMID:29381227 PMID:29388750 PMID:30534853 PMID:30913330 PMID:31064749 PMID:31899798 PMID:32166871 PMID:32190902 PMID:32497379 PMID:32581362 PMID:32897612 PMID:33245802 PMID:33706050 PMID:34272389 PMID:34355501 PMID:34751920 PMID:35014236 PMID:35770352 PMID:36007526 More...
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RGD:10450757 RGD:150520060 |
NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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G |
F9 |
coagulation factor IX |
|
ISO |
ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
ClinVar |
PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 PMID:1968152 PMID:2066105 PMID:2087690 PMID:2198809 PMID:2220823 PMID:2472424 PMID:2752109 PMID:2773937 PMID:2929599 PMID:3181127 PMID:5298508 PMID:6603618 PMID:7482402 PMID:7797466 PMID:7873393 PMID:7937052 PMID:8055323 PMID:8091381 PMID:8257988 PMID:8314564 PMID:8320491 PMID:8401514 PMID:8470048 PMID:8680410 PMID:8772212 PMID:9222764 PMID:9450791 PMID:10094553 PMID:10192459 PMID:10373456 PMID:10595634 PMID:10698280 PMID:10739381 PMID:10874302 PMID:11122099 PMID:11328285 PMID:12588353 PMID:12687663 PMID:14675097 PMID:15178576 PMID:15569175 PMID:15921378 PMID:16643212 PMID:17014892 PMID:18479429 PMID:19699296 PMID:22103590 PMID:22544209 PMID:22639855 PMID:23093250 PMID:24375831 PMID:24759143 PMID:25326637 PMID:25741868 PMID:27529981 PMID:27734074 PMID:27865967 PMID:28193338 PMID:28492532 PMID:28722788 PMID:29656491 PMID:29993188 PMID:31064749 PMID:32155688 PMID:32267853 PMID:32581362 PMID:34272389 PMID:34355501 PMID:34590426 PMID:34708896 PMID:35770352 More...
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NCBI chrNW_004955489:5,747,718...5,780,899
Ensembl chrNW_004955489:5,749,187...5,780,866
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Fundc2 |
FUN14 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A |
ClinVar |
PMID:2105106 PMID:2563431 |
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NCBI chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400
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Hmox1 |
heme oxygenase 1 |
treatment |
ISO |
DNA:repeat:promoter |
RGD |
PMID:23716558 |
RGD:10755564 |
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
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Ifng |
interferon gamma |
treatment |
ISO |
DNA:SNP: :+874 A>T (human) |
RGD |
PMID:25930091 |
RGD:11055683 |
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Il10 |
interleukin 10 |
treatment |
ISO |
DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) |
RGD |
PMID:20082647 |
RGD:11049183 |
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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LOC102021406 |
histone H2A |
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ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
ClinVar |
PMID:2105106 PMID:22759210 |
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NCBI chrNW_004955593:911,641...911,919
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Mpp1 |
MAGUK p55 scaffold protein 1 |
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ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
ClinVar |
PMID:2105106 |
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NCBI chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866
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Mthfr |
methylenetetrahydrofolate reductase |
severity no_association |
ISO |
DNA:SNP: :677C>T (human) DNA:SNP: :1298A>C (human) |
RGD |
PMID:22411997 |
RGD:10449409 |
NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
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Plat |
plasminogen activator, tissue type |
treatment |
ISO |
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RGD |
PMID:1419807 |
RGD:11552591 |
NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394
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Smim9 |
small integral membrane protein 9 |
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ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
ClinVar |
PMID:2105106 |
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NCBI chrNW_004955594:803,406...816,735
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Tfpi |
tissue factor pathway inhibitor |
treatment |
ISO |
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RGD |
PMID:22355108 PMID:24263002 PMID:24687919 |
RGD:11060141 RGD:11060147 RGD:11060256 |
NCBI chrNW_004955403:10,925,155...11,004,229
Ensembl chrNW_004955403:10,924,893...11,004,284
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Tgfb1 |
transforming growth factor beta 1 |
treatment |
ISO |
DNA:polymorphism: :869T>C(rs1982037)(human) |
RGD |
PMID:25930091 |
RGD:11055683 |
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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Vwf |
von Willebrand factor |
treatment |
ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
RGD ClinVar |
PMID:25741868 PMID:25955153 |
RGD:11073776 |
NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571
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F8 |
coagulation factor VIII |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11886462 |
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NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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Lman1 |
lectin, mannose binding 1 |
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ISO |
ClinVar Annotator: match by term: FMFD I |
OMIM ClinVar |
PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 |
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NCBI chrNW_004955402:43,465,556...43,495,789
Ensembl chrNW_004955402:43,464,722...43,496,048
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Mcfd2 |
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit |
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ISO |
ClinVar Annotator: match by term: FMFD I |
ClinVar |
PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 |
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NCBI chrNW_004955441:13,766,683...13,776,305
Ensembl chrNW_004955441:13,764,144...13,777,628
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Fancb |
FA complementation group B |
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ISO |
ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B |
OMIM ClinVar |
PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 PMID:23613520 PMID:24033266 PMID:25168418 PMID:25741868 PMID:28492532 PMID:32106311 PMID:32546565 More...
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NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814
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Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.R28L (c.83G>T) (human) |
CTD RGD |
PMID:19200522 |
RGD:11576290 |
NCBI chrNW_004955565:879,560...1,242,727
Ensembl chrNW_004955565:879,830...1,237,692
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Flna |
filamin A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17632775 |
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NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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Med12 |
mediator complex subunit 12 |
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ISO |
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 |
ClinVar |
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:34573309 PMID:36271811 More...
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NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
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CUNHXorf65 |
chromosome unknown CXorf65 homolog |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955475:10,674,333...10,676,485
Ensembl chrNW_004955475:10,674,197...10,677,048
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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 chrNW_004955475:10,666,024...10,673,717
Ensembl chrNW_004955475:10,665,987...10,674,110
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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 chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910
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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 chrNW_004955475:10,676,592...10,680,565
Ensembl chrNW_004955475:10,676,870...10,680,517
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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 chrNW_004955475:10,854,148...10,858,802
Ensembl chrNW_004955475:10,854,270...10,858,636
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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:34573309 PMID:36271811 More...
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NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
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Nlgn3 |
neuroligin 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955475:10,712,170...10,735,857
Ensembl chrNW_004955475:10,712,170...10,735,857
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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 chrNW_004955475:10,833,514...10,853,460
Ensembl chrNW_004955475:10,833,189...10,853,519
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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 chrNW_004955475:10,457,859...10,463,828
Ensembl chrNW_004955475:10,457,787...10,464,514
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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 chrNW_004955475:10,632,938...10,641,452
Ensembl chrNW_004955475:10,474,697...10,641,723
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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 chrNW_004955475:10,930,175...11,006,876
Ensembl chrNW_004955475:10,930,192...11,005,724
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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 chrNW_004955475:10,057,708...10,432,087
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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 chrNW_004955475:10,801,637...10,818,123
Ensembl chrNW_004955475:10,801,255...10,818,375
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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 chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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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 chrNW_004955565:879,560...1,242,727
Ensembl chrNW_004955565:879,830...1,237,692
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Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1 |
OMIM ClinVar |
PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 PMID:16417552 PMID:16596676 PMID:16822260 PMID:16835913 PMID:18414213 PMID:22522697 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30986657 PMID:35000503 More...
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NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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Lage3 |
L antigen family member 3 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked |
OMIM ClinVar |
PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 |
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NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617
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Adgrg2 |
adhesion G protein-coupled receptor G2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955586:359,573...477,277
Ensembl chrNW_004955586:359,567...479,325
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Bclaf3 |
BCLAF1 and THRAP3 family member 3 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955509:383,083...435,163
Ensembl chrNW_004955509:381,959...417,347
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Bend2 |
BEN domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955519:104,726...155,418
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Cdkl5 |
cyclin dependent kinase like 5 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485
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Eif1ax |
eukaryotic translation initiation factor 1A X-linked |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955509:577,975...594,028
Ensembl chrNW_004955509:577,975...594,028
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Map3k15 |
mitogen-activated protein kinase kinase kinase 15 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955586:5,856...99,662
Ensembl chrNW_004955586:5,345...99,534
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Map7d2 |
MAP7 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955509:447,053...568,590
Ensembl chrNW_004955509:450,486...494,290
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Nhs |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955519:596,216...919,352
Ensembl chrNW_004955519:599,682...918,762
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Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928
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Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I |
OMIM ClinVar |
PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:7959740 PMID:8733133 PMID:8733134 PMID:9536098 PMID:9600238 PMID:9835437 PMID:9870210 PMID:10330341 PMID:11286390 PMID:12862311 PMID:16199547 PMID:17304053 PMID:17576681 PMID:17689125 PMID:18076117 PMID:19763152 PMID:20307669 PMID:21634085 PMID:21646031 PMID:21857251 PMID:21911307 PMID:22406018 PMID:22899091 PMID:23578772 PMID:24055370 PMID:25070466 PMID:25266922 PMID:25315662 PMID:25741868 PMID:25741869 PMID:26157701 PMID:26944031 PMID:27103379 PMID:28085675 PMID:28283841 PMID:28468868 PMID:28492532 PMID:28600779 PMID:28627441 PMID:30659246 PMID:30945684 PMID:31248825 PMID:31508908 PMID:31987065 PMID:32244026 PMID:32387637 PMID:34093448 PMID:34117828 PMID:34277355 More...
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NCBI chrNW_004955586:482,353...549,512
Ensembl chrNW_004955586:482,353...552,616
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Ppef1 |
protein phosphatase with EF-hand domain 1 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955586:597,620...761,433
Ensembl chrNW_004955586:597,164...760,136
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Rai2 |
retinoic acid induced 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955519:494,463...553,839
Ensembl chrNW_004955519:494,463...553,839
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Rps6ka3 |
ribosomal protein S6 kinase A3 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955509:600,415...701,833
Ensembl chrNW_004955509:600,284...701,837
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G |
Scml1 |
Scm polycomb group protein like 1 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955519:578,343...591,299
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G |
Scml2 |
Scm polycomb group protein like 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955519:16,839...84,226
Ensembl chrNW_004955519:3,696...84,237
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G |
Sh3kbp1 |
SH3 domain containing kinase binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chrNW_004955509:6,157...344,930
Ensembl chrNW_004955509:4,960...345,012
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G |
Phka1 |
phosphorylase kinase regulatory subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: GSD IXd | ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition |
OMIM ClinVar |
PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 PMID:12825073 PMID:15637709 PMID:16199547 PMID:17576681 PMID:18401027 PMID:22238410 PMID:25640679 PMID:25741868 PMID:26242992 PMID:28492532 PMID:29667327 PMID:32528171 More...
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NCBI chrNW_004955475:12,020,278...12,172,427
Ensembl chrNW_004955475:12,020,629...12,172,443
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G |
Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXd |
ClinVar |
PMID:10330341 PMID:12862311 PMID:23578772 PMID:25741868 PMID:27103379 PMID:28492532 PMID:28627441 PMID:31508908 More...
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NCBI chrNW_004955586:482,353...549,512
Ensembl chrNW_004955586:482,353...552,616
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G |
Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Phosphorylase kinase deficiency of liver |
ClinVar |
PMID:7711737 PMID:10330341 PMID:16199547 PMID:25741868 PMID:28492532 PMID:32244026 PMID:34117828 More...
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NCBI chrNW_004955586:482,353...549,512
Ensembl chrNW_004955586:482,353...552,616
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G |
Atp11c |
ATPase phospholipid transporting 11C |
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ISO |
ClinVar Annotator: match by term: Hereditary factor IX deficiency disease |
ClinVar |
PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 PMID:28492532 More...
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NCBI chrNW_004955489:5,394,553...5,567,295
Ensembl chrNW_004955489:5,394,357...5,567,405
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G |
CUNHXorf66 |
chromosome unknown CXorf66 homolog |
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ISO |
ClinVar Annotator: match by term: Hereditary factor IX deficiency disease |
ClinVar |
PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 PMID:28492532 More...
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NCBI chrNW_004955489:5,318,531...5,327,883
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G |
F2 |
coagulation factor II, thrombin |
treatment |
ISO |
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RGD |
PMID:26635073 |
RGD:11565076 |
NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease |
ClinVar |
PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1671991 PMID:1908096 PMID:1924291 PMID:1979502 PMID:2104741 PMID:2106480 PMID:2493803 PMID:2498882 PMID:2506948 PMID:2833855 PMID:2987704 PMID:6438527 PMID:7728145 PMID:7794769 PMID:8281136 PMID:8307558 PMID:8449505 PMID:8490618 PMID:8547094 PMID:8584995 PMID:8639447 PMID:8644728 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9829908 PMID:9886318 PMID:10338101 PMID:10404764 PMID:10519986 PMID:10896236 PMID:10910910 PMID:10910913 PMID:11102988 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11843836 PMID:11857744 PMID:12139751 PMID:12204009 PMID:12871415 PMID:15569173 PMID:15625837 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16128892 PMID:16173970 PMID:16601827 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17222201 PMID:17445092 PMID:17610549 PMID:18034822 PMID:18387975 PMID:18403393 PMID:18565236 PMID:18600086 PMID:18691168 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19719828 PMID:20102490 PMID:20148980 PMID:20193250 PMID:20300295 PMID:20331753 PMID:20533009 PMID:20800587 PMID:20860608 PMID:21070499 PMID:21371196 PMID:21645180 PMID:21751985 PMID:21838755 PMID:21883705 PMID:22103590 PMID:23625609 PMID:23711294 PMID:23812942 PMID:23926300 PMID:25741868 PMID:25824987 PMID:25854144 PMID:29296726 PMID:31064749 PMID:32166871 PMID:34355501 More...
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NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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G |
F9 |
coagulation factor IX |
treatment |
ISO |
ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hemophilia B Brandenburg | ClinVar Annotator: match by term: Hemophilia B leyden | ClinVar Annotator: match by term: Hemophilia B, Factor IX Deficiency | ClinVar Annotator: match by term: Hemophilia b(m) | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease |
OMIM ClinVar RGD |
PMID:734633 PMID:884315 PMID:1346077 PMID:1346975 PMID:1357229 PMID:1517205 PMID:1579901 PMID:1598234 PMID:1615485 PMID:1615486 PMID:1631121 PMID:1631558 PMID:1680287 PMID:1680373 PMID:1733855 PMID:1796396 PMID:1864609 PMID:1873221 PMID:1897528 PMID:1902289 PMID:1958666 PMID:1968152 PMID:1969838 PMID:1972560 PMID:1986380 PMID:1998585 PMID:2004020 PMID:2020563 PMID:2066105 PMID:2087690 PMID:2093364 PMID:2111833 PMID:2198809 PMID:2212858 PMID:2220823 PMID:2270538 PMID:2320433 PMID:2339358 PMID:2342576 PMID:2352926 PMID:2355000 PMID:2370049 PMID:2372509 PMID:2388855 PMID:2438804 PMID:2450455 PMID:2472424 PMID:2494175 PMID:2563663 PMID:2564457 PMID:2570235 PMID:2592373 PMID:2714791 PMID:2738071 PMID:2741941 PMID:2743975 PMID:2752109 PMID:2753873 PMID:2757966 PMID:2762170 PMID:2773937 PMID:2775660 PMID:2821070 PMID:2831715 PMID:2841226 PMID:2846283 PMID:2848757 PMID:2873459 PMID:2875754 PMID:2886685 PMID:2917196 PMID:2929599 PMID:2992643 PMID:3009023 PMID:3029178 PMID:3181127 PMID:3243764 PMID:3262389 PMID:3392024 PMID:3401602 PMID:3411192 PMID:3416069 PMID:3461460 PMID:3651597 PMID:3790720 PMID:3857619 PMID:3965513 PMID:4033760 PMID:4045960 PMID:4163943 PMID:5298508 PMID:5450691 PMID:6603618 PMID:6843667 PMID:7062952 PMID:7101232 PMID:7482402 PMID:7677806 PMID:7734378 PMID:7797466 PMID:7873393 PMID:7937052 PMID:7989034 PMID:8055323 PMID:8091381 PMID:8178822 PMID:8199596 PMID:8217825 PMID:8251390 PMID:8257988 PMID:8304338 PMID:8314564 PMID:8318985 PMID:8320491 PMID:8352232 PMID:8365725 PMID:8392713 PMID:8401514 PMID:8412791 PMID:8434583 PMID:8463288 PMID:8470048 PMID:8499919 PMID:8499951 PMID:8594556 PMID:8602635 PMID:8680410 PMID:8772212 PMID:8825645 PMID:8833911 PMID:8990015 PMID:9222764 PMID:9450791 PMID:9525872 PMID:9536098 PMID:9590153 PMID:9600455 PMID:10090477 PMID:10094553 PMID:10192459 PMID:10373456 PMID:10595634 PMID:10647899 PMID:10698280 PMID:10739381 PMID:10874302 PMID:10942410 PMID:10980527 PMID:11013449 PMID:11122099 PMID:11328285 PMID:12588353 PMID:12687663 PMID:12709378 PMID:12780784 PMID:12997790 PMID:14675097 PMID:15086324 PMID:15178576 PMID:15569175 PMID:15613048 PMID:15921378 PMID:16199547 PMID:16270648 PMID:16643212 PMID:17014892 PMID:17397055 PMID:17576681 PMID:18479429 PMID:18540896 PMID:18624698 PMID:19236374 PMID:19262239 PMID:19286883 PMID:19522246 PMID:19686262 PMID:19699296 PMID:19763152 PMID:19815722 PMID:19846852 PMID:20059559 PMID:20301668 PMID:20305539 PMID:20307669 PMID:20351275 PMID:20695909 PMID:21118338 PMID:21122306 PMID:22103590 PMID:22406018 PMID:22544209 PMID:22639855 PMID:22707612 PMID:23093250 PMID:23472758 PMID:23617593 PMID:23689273 PMID:23913812 PMID:23998594 PMID:24375831 PMID:24533955 PMID:24759143 PMID:24816826 PMID:25251685 PMID:25326637 PMID:25470321 PMID:25582609 PMID:25741868 PMID:25851415 PMID:25929987 PMID:26612714 PMID:27109384 PMID:27213901 PMID:27227676 PMID:27501440 PMID:27529981 PMID:27734074 PMID:27824213 PMID:27865967 PMID:28168417 PMID:28193338 PMID:28492532 PMID:28722788 PMID:28752769 PMID:28834196 PMID:29296726 PMID:29405493 PMID:29450643 PMID:29517974 PMID:29656491 PMID:29923114 PMID:29993188 PMID:30576981 PMID:30648777 PMID:30817051 PMID:31026269 PMID:31064749 PMID:31234407 PMID:31272859 PMID:31395865 PMID:31840356 PMID:32155688 PMID:32267853 PMID:32581362 PMID:32596782 PMID:32766856 PMID:32875744 PMID:32935414 PMID:34272389 PMID:34355501 PMID:34590426 PMID:34626083 PMID:34708896 PMID:34880139 PMID:35391506 PMID:35770352 PMID:35842956 PMID:36163649 More...
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RGD:10450761 RGD:10450764 |
NCBI chrNW_004955489:5,747,718...5,780,899
Ensembl chrNW_004955489:5,749,187...5,780,866
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G |
Mcf2 |
MCF.2 cell line derived transforming sequence |
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ISO |
ClinVar Annotator: match by term: Hereditary factor IX deficiency disease |
ClinVar |
PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 PMID:28492532 More...
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NCBI chrNW_004955489:5,613,310...5,715,688
Ensembl chrNW_004955489:5,665,530...5,709,891
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G |
Sox3 |
SRY-box transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary factor IX deficiency disease |
ClinVar |
PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 PMID:28492532 More...
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NCBI chrNW_004955489:4,817,753...4,819,858
Ensembl chrNW_004955489:4,817,753...4,819,131
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G |
Morf4l2 |
mortality factor 4 like 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chrNW_004955548:682,409...685,886
Ensembl chrNW_004955548:682,409...685,900
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G |
Plp1 |
proteolipid protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
OMIM ClinVar |
PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7488049 PMID:7522741 PMID:7531827 PMID:7539212 PMID:7539213 PMID:7679906 PMID:8012387 PMID:8320699 PMID:8659540 PMID:8723686 PMID:8786077 PMID:8956049 PMID:9056547 PMID:9106132 PMID:9247276 PMID:9427151 PMID:9489796 PMID:9536098 PMID:9633722 PMID:9634530 PMID:9934976 PMID:10319885 PMID:10319897 PMID:10417279 PMID:11093273 PMID:12601703 PMID:12910435 PMID:14452137 PMID:14745569 PMID:15450775 PMID:15712223 PMID:16199547 PMID:16287154 PMID:16380909 PMID:16844304 PMID:17438221 PMID:17576681 PMID:18160035 PMID:18414213 PMID:18470932 PMID:19328639 PMID:19825935 PMID:19955111 PMID:20022439 PMID:21679407 PMID:22016529 PMID:22101368 PMID:22343157 PMID:22695888 PMID:23344956 PMID:23347225 PMID:24088041 PMID:24139698 PMID:24519770 PMID:24890387 PMID:24936452 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26786043 PMID:26795593 PMID:27535533 PMID:28366443 PMID:28492532 PMID:29451896 PMID:30314286 PMID:30337681 PMID:31448840 PMID:33504798 PMID:34782662 PMID:35012964 More...
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NCBI chrNW_004955548:781,522...797,246
Ensembl chrNW_004955548:781,015...797,935
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G |
Rab9b |
RAB9B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:1384324 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7488049 PMID:7522741 PMID:7531827 PMID:7539212 PMID:7679906 PMID:8012387 PMID:8320699 PMID:8723686 PMID:8786077 PMID:8956049 PMID:9056547 PMID:9106132 PMID:9247276 PMID:9427151 PMID:9489796 PMID:9536098 PMID:9634530 PMID:9934976 PMID:10319897 PMID:10417279 PMID:11093273 PMID:12601703 PMID:12910435 PMID:14452137 PMID:14745569 PMID:15450775 PMID:15712223 PMID:16199547 PMID:16287154 PMID:16380909 PMID:16844304 PMID:17438221 PMID:17576681 PMID:18160035 PMID:18414213 PMID:18470932 PMID:19328639 PMID:19825935 PMID:19955111 PMID:20022439 PMID:21679407 PMID:22016529 PMID:22101368 PMID:22343157 PMID:22695888 PMID:23344956 PMID:23347225 PMID:24088041 PMID:24139698 PMID:24519770 PMID:24890387 PMID:24936452 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26786043 PMID:26795593 PMID:27535533 PMID:28366443 PMID:28492532 PMID:29451896 PMID:30314286 PMID:30337681 PMID:33504798 PMID:34782662 PMID:35012964 More...
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NCBI chrNW_004955548:825,208...829,815
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G |
Spast |
spastin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955441:471,609...521,920
Ensembl chrNW_004955441:485,815...520,452
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G |
Tceal1 |
transcription elongation factor A like 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chrNW_004955548:655,219...655,671
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G |
Ap4b1 |
adaptor related protein complex 4 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955435:17,163,099...17,173,427
Ensembl chrNW_004955435:17,163,099...17,173,427
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G |
Dclre1b |
DNA cross-link repair 1B |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 |
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NCBI chrNW_004955435:17,173,975...17,179,986
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544 PMID:20301779 PMID:25741868 PMID:28492532 PMID:31027506 More...
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NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
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ISO |
DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) |
RGD |
PMID:23959892 |
RGD:152977765 |
NCBI chrNW_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia |
ClinVar |
PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 |
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NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
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G |
Aldh16a1 |
aldehyde dehydrogenase 16 family member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23348497 |
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NCBI chrNW_004955559:1,376,862...1,390,861
Ensembl chrNW_004955559:1,376,977...1,390,841
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G |
Ccdc160 |
coiled-coil domain containing 160 |
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ISO |
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
ClinVar |
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
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NCBI chrNW_004955473:725,822...742,698
Ensembl chrNW_004955473:725,193...736,944
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G |
Gpc3 |
glypican 3 |
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ISO |
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
ClinVar |
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
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NCBI chrNW_004955473:969,627...1,431,706
Ensembl chrNW_004955473:969,800...1,431,483
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
OMIM ClinVar |
PMID:1301916 PMID:1483694 PMID:1487231 PMID:1551676 PMID:1781350 PMID:1937471 PMID:2071157 PMID:2246854 PMID:2323782 PMID:2347587 PMID:2516172 PMID:2738157 PMID:2896620 PMID:2928313 PMID:3198771 PMID:3358423 PMID:3384338 PMID:6087154 PMID:6204922 PMID:6309910 PMID:6706936 PMID:7987318 PMID:8111415 PMID:8125482 PMID:9288634 PMID:9536098 PMID:9799086 PMID:10518289 PMID:10737990 PMID:11018746 PMID:11068166 PMID:11891689 PMID:15386453 PMID:15505382 PMID:15571220 PMID:16199547 PMID:16549399 PMID:17027311 PMID:17454734 PMID:17483691 PMID:17576681 PMID:18600506 PMID:19016344 PMID:20176575 PMID:20981450 PMID:22132984 PMID:22157001 PMID:22999896 PMID:23597535 PMID:23975452 PMID:25136576 PMID:25481104 PMID:25741868 PMID:27288985 PMID:28045594 PMID:28492532 PMID:29185864 More...
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NCBI chrNW_004955473:462,940...510,006
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G |
Phf6 |
PHD finger protein 6 |
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ISO |
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
ClinVar |
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
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NCBI chrNW_004955473:527,005...586,589
Ensembl chrNW_004955473:527,005...586,627
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G |
Anos1 |
anosmin 1 |
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ISO |
ClinVar Annotator: match by term: ANOS1-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia |
OMIM ClinVar |
PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 PMID:9536098 PMID:9589672 PMID:9713559 PMID:11044805 PMID:11297579 PMID:12050219 PMID:12727945 PMID:15001591 PMID:15605412 PMID:16199547 PMID:16882753 PMID:17054399 PMID:17576681 PMID:18259106 PMID:21681106 PMID:22035731 PMID:23100014 PMID:23410897 PMID:23533228 PMID:23643382 PMID:23721716 PMID:23849776 PMID:24031091 PMID:25064402 PMID:25077900 PMID:25339597 PMID:25636053 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26708526 PMID:26862482 PMID:27657687 PMID:28122887 PMID:28295047 PMID:28492532 PMID:28566479 PMID:28708303 PMID:28915117 PMID:29211946 PMID:29758562 PMID:30098700 PMID:31200363 PMID:31602316 PMID:32870266 More...
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NCBI chrNW_004955499:6,486,287...6,686,739
Ensembl chrNW_004955499:6,486,682...6,687,484
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G |
Gjb2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30431684 |
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NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
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Mbtps2 |
membrane bound transcription factor peptidase, site 2 |
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ISO |
ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome |
OMIM ClinVar |
PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 PMID:24313295 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004955509:2,185,054...2,222,497
Ensembl chrNW_004955509:2,184,522...2,222,505
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G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome |
ClinVar |
PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 |
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NCBI chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046
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Aopep |
aminopeptidase O (putative) |
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ISO |
ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement |
ClinVar |
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NCBI chrNW_004955422:21,680,488...22,020,935
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G |
Fancb |
FA complementation group B |
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ISO |
ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814
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Fancc |
FA complementation group C |
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ISO |
ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement |
ClinVar |
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NCBI chrNW_004955422:22,031,825...22,246,478
Ensembl chrNW_004955422:22,032,258...22,247,044
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Igsf1 |
immunoglobulin superfamily member 1 |
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ISO |
ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement |
OMIM ClinVar |
PMID:23143598 PMID:23966245 PMID:25741868 PMID:27310681 PMID:28492532 PMID:30086211 More...
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NCBI chrNW_004955473:3,702,471...3,715,506
Ensembl chrNW_004955473:3,699,517...3,715,514
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G |
Akap4 |
A-kinase anchoring protein 4 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:1,358,086...1,367,838
Ensembl chrNW_004955543:1,357,997...1,367,897
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G |
Araf |
A-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955516:521,479...532,980
Ensembl chrNW_004955516:521,479...533,212
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G |
Bmp15 |
bone morphogenetic protein 15 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:2,304,112...2,345,376
Ensembl chrNW_004955543:2,339,659...2,345,406
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Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364
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G |
Ccdc120 |
coiled-coil domain containing 120 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:577,078...594,076
Ensembl chrNW_004955543:587,321...592,544
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Ccdc22 |
coiled-coil domain containing 22 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:19471859 PMID:28492532 PMID:30443250 |
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NCBI chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753
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G |
Ccnb3 |
cyclin B3 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:1,377,932...1,444,327
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Cdk16 |
cyclin dependent kinase 16 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955516:860,474...873,338
Ensembl chrNW_004955516:860,480...873,338
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G |
Cfp |
complement factor properdin |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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Dgkk |
diacylglycerol kinase kappa |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:1,468,328...1,601,101
Ensembl chrNW_004955543:1,468,328...1,601,101
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Dock8 |
dedicator of cytokinesis 8 |
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ISO |
DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) |
RGD |
PMID:29058101 |
RGD:40886273 |
NCBI chrNW_004955434:4,849,147...5,050,545
Ensembl chrNW_004955434:4,867,016...5,049,118
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Ebp |
EBP cholestenol delta-isomerase |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
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G |
Elk1 |
ETS transcription factor ELK1 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871
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G |
Eras |
ES cell expressed Ras |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:381,756...383,093
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G |
Foxp3 |
forkhead box P3 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
OMIM ClinVar |
PMID:3375136 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 PMID:11137993 PMID:11295725 PMID:11768393 PMID:12161590 PMID:14671208 PMID:15096376 PMID:16199547 PMID:16630773 PMID:16741580 PMID:16920951 PMID:17576681 PMID:17586580 PMID:17635943 PMID:18414213 PMID:18795917 PMID:18820676 PMID:18931102 PMID:18951619 PMID:19189134 PMID:19471859 PMID:19633572 PMID:20537998 PMID:20650610 PMID:21036387 PMID:22000569 PMID:22581967 PMID:22590469 PMID:23313429 PMID:23534934 PMID:24033266 PMID:24250806 PMID:24258212 PMID:24792626 PMID:24916357 PMID:24982679 PMID:25326164 PMID:25363768 PMID:25546394 PMID:25741868 PMID:25911531 PMID:26467025 PMID:26661331 PMID:26748374 PMID:26748735 PMID:27167055 PMID:28289675 PMID:28492532 PMID:28778586 PMID:28783662 PMID:28993341 PMID:29193502 PMID:29241729 PMID:29312905 PMID:29896738 PMID:29907148 PMID:30191644 PMID:30293990 PMID:30385752 PMID:30443250 PMID:30510991 PMID:30805323 PMID:30894704 PMID:31027649 PMID:31130284 PMID:31990476 PMID:32279225 PMID:32531870 PMID:33046911 PMID:33194927 PMID:33523441 PMID:33637067 PMID:33751536 PMID:33833438 PMID:34216291 More...
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NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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G |
Ftsj1 |
FtsJ RNA 2'-O-methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:42,524...49,835
Ensembl chrNW_004955543:40,728...53,111
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G |
Gata1 |
GATA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
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G |
Glod5 |
glyoxalase domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:320,087...321,311
Ensembl chrNW_004955543:319,985...323,393
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G |
Gpkow |
G-patch domain and KOW motifs |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:625,247...633,065
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G |
Gripap1 |
GRIP1 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:500,340...527,243
Ensembl chrNW_004955543:500,340...527,267
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G |
Hdac6 |
histone deacetylase 6 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071
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G |
Jade3 |
jade family PHD finger 3 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955516:998,854...1,133,013
Ensembl chrNW_004955516:998,725...1,061,279
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G |
Kcnd1 |
potassium voltage-gated channel subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:487,312...500,232
Ensembl chrNW_004955543:487,312...498,626
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G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207
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G |
Otud5 |
OTU deubiquitinase 5 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:452,172...484,564
Ensembl chrNW_004955543:452,121...484,560
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G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:383,984...387,885
Ensembl chrNW_004955543:384,123...387,744
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G |
Pim2 |
Pim-2 proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:444,314...449,201
Ensembl chrNW_004955543:444,314...449,201
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G |
Plp2 |
proteolipid protein 2 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:658,617...662,441
Ensembl chrNW_004955543:658,486...662,441
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G |
Porcn |
porcupine O-acyltransferase |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:75,870...91,575
Ensembl chrNW_004955543:75,875...91,975
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G |
Ppp1r3f |
protein phosphatase 1 regulatory subunit 3F |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:750,094...767,894
Ensembl chrNW_004955543:750,323...766,797
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G |
Pqbp1 |
polyglutamine binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:430,324...434,205
Ensembl chrNW_004955543:430,853...434,205
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G |
Praf2 |
PRA1 domain family member 2 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:594,662...597,695
Ensembl chrNW_004955543:594,606...598,264
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G |
Prickle3 |
prickle planar cell polarity protein 3 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:662,438...673,386
Ensembl chrNW_004955543:662,438...673,662
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G |
Rbm10 |
RNA binding motif protein 10 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955516:904,852...934,313
Ensembl chrNW_004955516:904,062...934,313
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G |
Rbm3 |
RNA binding motif protein 3 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:166,891...173,987
Ensembl chrNW_004955543:166,891...170,488
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G |
Rgn |
regucalcin |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955516:958,416...978,829
Ensembl chrNW_004955516:955,680...978,910
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G |
Rp2 |
RP2 activator of ARL3 GTPase |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955516:1,160,148...1,193,540
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G |
Shroom4 |
shroom family member 4 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:1,810,125...2,046,144
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G |
Slc35a2 |
solute carrier family 35 member A2 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:434,265...443,460
Ensembl chrNW_004955543:434,405...443,508
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G |
Slc38a5 |
solute carrier family 38 member 5 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:15,968...24,644
Ensembl chrNW_004955543:16,089...24,668
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G |
Slc9a7 |
solute carrier family 9 member A7 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955516:1,286,070...1,428,789
Ensembl chrNW_004955516:1,286,070...1,428,789
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G |
Spaca5 |
sperm acrosome associated 5 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955516:103,674...106,082
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G |
Suv39h1 |
SUV39H1 histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955543:258,479...271,128
Ensembl chrNW_004955543:258,479...272,473
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G |
Syn1 |
synapsin I |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955516:460,258...521,484
Ensembl chrNW_004955516:460,198...521,484
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G |
Syp |
synaptophysin |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955543:675,294...689,579
Ensembl chrNW_004955543:675,294...689,686
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G |
Tbc1d25 |
TBC1 domain family member 25 |
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ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955543:127,314...154,235
Ensembl chrNW_004955543:127,162...154,235
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G |
Tfe3 |
transcription factor binding to IGHM enhancer 3 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955543:547,037...561,073
Ensembl chrNW_004955543:547,037...561,073
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G |
Timm17b |
translocase of inner mitochondrial membrane 17B |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955543:425,076...430,767
Ensembl chrNW_004955543:425,076...430,767
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
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G |
Uba1 |
ubiquitin like modifier activating enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955516:876,542...898,763
Ensembl chrNW_004955516:876,354...891,206
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G |
Usp11 |
ubiquitin specific peptidase 11 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955516:840,708...858,201
Ensembl chrNW_004955516:841,114...857,322
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G |
Usp27x |
ubiquitin specific peptidase 27 X-linked |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955543:1,023,931...1,027,048
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G |
Uxt |
ubiquitously expressed prefoldin like chaperone |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955516:421,402...429,804
Ensembl chrNW_004955516:420,616...430,134
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G |
Was |
WASP actin nucleation promoting factor |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:243,618...253,489
Ensembl chrNW_004955543:247,631...253,274
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G |
Wdr13 |
WD repeat domain 13 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:182,279...190,435
Ensembl chrNW_004955543:182,279...190,435
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G |
Wdr45 |
WD repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963
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G |
Znf157 |
zinc finger protein 157 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955516:692,871...727,103
Ensembl chrNW_004955516:692,871...727,103
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G |
Znf182 |
zinc finger protein 182 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955516:93,596...148,739
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|
G |
Znf41 |
zinc finger protein 41 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
|
NCBI chrNW_004955516:611,591...646,109
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G |
Znf81 |
zinc finger protein 81 |
|
ISO |
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
ClinVar |
PMID:11137992 PMID:11137993 PMID:28492532 |
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NCBI chrNW_004955516:215,370...312,684
Ensembl chrNW_004955516:219,262...248,215
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|
G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
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|
G |
Arhgap4 |
Rho GTPase activating protein 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:586,986...600,299
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471
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|
G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734
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G |
Avpr2 |
arginine vasopressin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
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|
G |
Bcap31 |
B cell receptor associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168
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|
G |
Bgn |
biglycan |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663
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|
G |
Brcc3 |
BRCA1/BRCA2-containing complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661
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G |
Ccnq |
cyclin Q |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435
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G |
Clic2 |
chloride intracellular channel 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389
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|
G |
Cmc4 |
C-X9-C motif containing 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780
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|
G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
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|
G |
Dnase1l1 |
deoxyribonuclease 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243
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|
G |
Dusp9 |
dual specificity phosphatase 9 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455
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|
G |
Emd |
emerin |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
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G |
F8 |
coagulation factor VIII |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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|
G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849
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|
G |
Fam50a |
family with sequence similarity 50 member A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:941,620...947,763
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|
G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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|
G |
Fundc2 |
FUN14 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400
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|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
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|
G |
Gab3 |
GRB2 associated binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037
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|
G |
Gdi1 |
GDP dissociation inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081
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|
G |
Haus7 |
HAUS augmin like complex subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734
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|
G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597
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|
G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
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|
G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
OMIM ClinVar |
PMID:11590134 PMID:15229184 PMID:16950813 PMID:18222329 PMID:20529958 PMID:25741868 PMID:28993958 PMID:30422821 PMID:31965418 PMID:33224153 More...
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NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
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|
G |
Il9r |
interleukin 9 receptor |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955442:17,115,207...17,128,899
Ensembl chrNW_004955442:17,117,429...17,127,451
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|
G |
Irak1 |
interleukin 1 receptor associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622
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|
G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
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G |
Lage3 |
L antigen family member 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617
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|
G |
LOC102021406 |
histone H2A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955593:911,641...911,919
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|
G |
Mecp2 |
methyl-CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
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G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866
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|
G |
Mtcp1 |
mature T cell proliferation 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142
|
|
G |
Naa10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608
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G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917
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G |
Plxna3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772
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G |
Plxnb3 |
plexin B3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445
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G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065
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G |
Rab39b |
RAB39B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009
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G |
Renbp |
renin binding protein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
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G |
Rpl10 |
ribosomal protein L10 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439
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G |
Slc10a3 |
solute carrier family 10 member 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673
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G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:419,696...426,727
|
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G |
Smim9 |
small integral membrane protein 9 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:803,406...816,735
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G |
Spry3 |
sprouty RTK signaling antagonist 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:151,117...158,627
Ensembl chrNW_004955594:151,117...158,627
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G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709
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G |
Ssr4 |
signal sequence receptor subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791
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G |
Tex28 |
testis expressed 28 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:781,339...791,284
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G |
Tktl1 |
transketolase like 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757
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G |
Trex2 |
three prime repair exonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426
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G |
Ubl4a |
ubiquitin like 4A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368
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G |
Vamp7 |
vesicle associated membrane protein 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:20,496...72,648
Ensembl chrNW_004955594:18,727...72,654
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G |
Vbp1 |
VHL binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796
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|
|
G |
LOC102012042 |
cytochrome b-245 heavy chain |
|
ISO |
ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency |
OMIM ClinVar |
PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 PMID:9585602 PMID:10089913 PMID:10914676 PMID:11435314 PMID:12139950 PMID:17293536 PMID:17576681 PMID:18546332 PMID:19483051 PMID:21278736 PMID:23193493 PMID:24276928 PMID:25741868 PMID:28492532 PMID:29560547 PMID:30470980 More...
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|
NCBI chrNW_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912
|
|
|
G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 47 |
OMIM ClinVar |
PMID:25741868 PMID:27231034 PMID:28492532 PMID:28688840 PMID:29192153 PMID:29396028 PMID:32058063 PMID:32216104 PMID:35379322 More...
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|
NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734
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|
G |
Msn |
moesin |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to moesin deficiency | ClinVar Annotator: match by term: Immunodeficiency 50 |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:27405666 PMID:28378256 PMID:28492532 PMID:29556235 More...
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|
NCBI chrNW_004955475:5,301,856...5,370,378
Ensembl chrNW_004955475:5,301,910...5,370,691
|
|
|
G |
Sh3kbp1 |
SH3 domain containing kinase binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 61 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29636373 |
|
NCBI chrNW_004955509:6,157...344,930
Ensembl chrNW_004955509:4,960...345,012
|
|
|
G |
Armcx1 |
armadillo repeat containing X-linked 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955503:7,633,088...7,637,415
Ensembl chrNW_004955503:7,634,140...7,637,403
|
|
G |
Armcx2 |
armadillo repeat containing X-linked 2 |
|
ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955503:7,756,032...7,760,573
Ensembl chrNW_004955503:7,756,429...7,758,366
|
|
G |
Armcx3 |
armadillo repeat containing X-linked 3 |
|
ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:7,705,821...7,709,169
Ensembl chrNW_004955503:7,705,821...7,709,142
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Armcx4 |
armadillo repeat containing X-linked 4 |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:7,603,395...7,613,711
Ensembl chrNW_004955503:7,606,353...7,613,363
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Btk |
Bruton tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
OMIM ClinVar |
PMID:1240516 PMID:3486747 PMID:7627183 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8013627 PMID:8090769 PMID:8162018 PMID:8162056 PMID:8332900 PMID:8332901 PMID:8380905 PMID:8562928 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8723128 PMID:8834236 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9192269 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9536098 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10612838 PMID:10737994 PMID:10754312 PMID:10844531 PMID:10859027 PMID:10887125 PMID:11027452 PMID:11206059 PMID:11410123 PMID:11438999 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11555397 PMID:11668622 PMID:11742281 PMID:11809909 PMID:11892085 PMID:11956200 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:12768435 PMID:14974089 PMID:15024743 PMID:15112668 PMID:15358621 PMID:15661032 PMID:15821893 PMID:16159644 PMID:16199547 PMID:16297664 PMID:16712653 PMID:16729790 PMID:16862044 PMID:16943681 PMID:16951917 PMID:17045652 PMID:17327079 PMID:17576681 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19763152 PMID:19904586 PMID:20307669 PMID:20529312 PMID:20721470 PMID:21039741 PMID:21520333 PMID:21984432 PMID:22406018 PMID:22736418 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24307874 PMID:24383975 PMID:24477949 PMID:24586880 PMID:24658450 PMID:24869598 PMID:24885015 PMID:25082755 PMID:25189416 PMID:25270678 PMID:25640679 PMID:25741868 PMID:25777788 PMID:26915675 PMID:26931785 PMID:26960951 PMID:27199251 PMID:27512878 PMID:27535475 PMID:27577878 PMID:27593100 PMID:27980540 PMID:28049639 PMID:28212557 PMID:28236219 PMID:28359783 PMID:28418267 PMID:28492532 PMID:29202590 PMID:29424453 PMID:29496671 PMID:29503650 PMID:29709555 PMID:29875397 PMID:29921932 PMID:30018078 PMID:30072168 PMID:30240888 PMID:30290665 PMID:30311057 PMID:30564228 PMID:30697212 PMID:30882382 PMID:32067425 PMID:32117230 PMID:32441320 PMID:32455989 PMID:32477911 PMID:32499645 PMID:32552675 PMID:32581362 PMID:32888943 PMID:33013854 PMID:33154951 PMID:33224144 PMID:33225392 PMID:33377626 PMID:33815962 PMID:34029777 PMID:34182127 PMID:34262886 PMID:35382780 PMID:36029036 More...
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NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
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Cenpi |
centromere protein I |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:7,237,080...7,341,702
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G |
Cstf2 |
cleavage stimulation factor subunit 2 |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:6,949,901...6,971,281
Ensembl chrNW_004955503:6,949,823...6,975,030
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G |
Drp2 |
dystrophin related protein 2 |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:7,383,567...7,423,489
Ensembl chrNW_004955503:7,383,567...7,426,124
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Gla |
galactosidase alpha |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
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G |
Hnrnph2 |
heterogeneous nuclear ribonucleoprotein H2 |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:7,535,987...7,541,622
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Nox1 |
NADPH oxidase 1 |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:6,973,965...7,020,182
Ensembl chrNW_004955503:6,974,239...6,997,618
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Pcdh19 |
protocadherin 19 |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253
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Rpl36a |
ribosomal protein L36a |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:7,520,530...7,523,593
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Srpx2 |
sushi repeat containing protein X-linked 2 |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:6,795,793...6,817,779
Ensembl chrNW_004955503:6,795,734...6,821,119
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G |
Sytl4 |
synaptotagmin like 4 |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:6,821,263...6,899,983
Ensembl chrNW_004955503:6,821,236...6,899,983
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G |
Taf7l |
TATA-box binding protein associated factor 7 like |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:7,429,876...7,451,051
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Timm8a |
translocase of inner mitochondrial membrane 8A |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 PMID:22736418 PMID:28492532 More...
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NCBI chrNW_004955503:7,480,075...7,483,218
Ensembl chrNW_004955503:7,480,075...7,483,218
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Tmem35a |
transmembrane protein 35A |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:7,224,847...7,234,210
Ensembl chrNW_004955503:7,224,814...7,235,527
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G |
Tnmd |
tenomodulin |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:6,732,791...6,750,693
Ensembl chrNW_004955503:6,732,733...6,750,717
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G |
Tspan6 |
tetraspanin 6 |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:6,782,264...6,788,533
Ensembl chrNW_004955503:6,779,377...6,789,142
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G |
Xkrx |
XK related X-linked |
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ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955503:7,037,200...7,066,070
Ensembl chrNW_004955503:7,037,200...7,066,070
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G |
Ofd1 |
OFD1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 10 |
OMIM ClinVar |
PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 PMID:23033313 PMID:24884629 PMID:25741868 PMID:26092869 PMID:27081566 PMID:28492532 PMID:30401917 PMID:35112477 PMID:35728977 More...
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NCBI chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070
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G |
Gpc4 |
glypican 4 |
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ISO |
ClinVar Annotator: match by term: Keipert syndrome |
OMIM ClinVar |
PMID:4708024 PMID:25741868 PMID:30982611 |
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NCBI chrNW_004955473:1,546,615...1,655,822
Ensembl chrNW_004955473:1,546,326...1,655,822
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G |
Ar |
androgen receptor |
treatment |
ISO |
ClinVar Annotator: match by term: Bulbospinal neuronopathy X-linked recessive | ClinVar Annotator: match by term: Kennedy disease |
RGD ClinVar OMIM |
PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:22412043 PMID:25741868 PMID:26688387 PMID:26806084 PMID:26942099 PMID:27583472 PMID:28492532 PMID:28624954 PMID:30599484 More...
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RGD:11576229 |
NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
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Gdnf |
glial cell derived neurotrophic factor |
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ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:10447463 |
RGD:6218978 |
NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
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Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Lesch-Nyhan syndrome |
OMIM ClinVar |
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 More...
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NCBI chrNW_004955473:462,940...510,006
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant |
ClinVar |
PMID:1301916 PMID:2358296 PMID:10737990 PMID:17454734 PMID:20981450 PMID:22157001 PMID:22999896 PMID:25481104 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004955473:462,940...510,006
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis |
OMIM ClinVar |
PMID:7915957 PMID:8559248 PMID:9062355 PMID:9187673 PMID:9734595 PMID:11136179 PMID:15719255 PMID:15895257 PMID:16822791 PMID:18038239 PMID:19076289 PMID:19546586 PMID:19546591 PMID:22876375 PMID:24081861 PMID:25741868 PMID:25907713 PMID:26822237 PMID:27117801 PMID:27889724 PMID:28492532 PMID:28580211 PMID:31672324 PMID:32683654 More...
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NCBI chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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G |
Atn1 |
atrophin 1 |
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ISO |
ClinVar Annotator: match by term: X-linked hydrocephalus syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955413:4,511,251...4,524,037
Ensembl chrNW_004955413:4,516,532...4,522,831
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L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome |
OMIM ClinVar |
PMID:1303258 PMID:1870106 PMID:3460961 PMID:7493978 PMID:7562969 PMID:7762552 PMID:7881431 PMID:7920659 PMID:7920660 PMID:8062435 PMID:8401576 PMID:8401593 PMID:8826452 PMID:8929944 PMID:9195224 PMID:9268105 PMID:9279760 PMID:9300653 PMID:9521424 PMID:9536098 PMID:9610803 PMID:9643285 PMID:9744477 PMID:10469653 PMID:10767310 PMID:10797421 PMID:10908608 PMID:11438988 PMID:11772994 PMID:11857550 PMID:12442287 PMID:12725590 PMID:13889294 PMID:15108295 PMID:15148591 PMID:15555929 PMID:16199547 PMID:16650080 PMID:17328266 PMID:17576681 PMID:18136715 PMID:19617634 PMID:19641926 PMID:19846429 PMID:19953645 PMID:20447653 PMID:20621658 PMID:21271669 PMID:21688291 PMID:22973895 PMID:23820807 PMID:24155914 PMID:25644381 PMID:25666757 PMID:25741868 PMID:26467025 PMID:26891472 PMID:28492532 PMID:30249681 PMID:30712878 PMID:31069529 PMID:31319225 PMID:31474318 PMID:31504653 PMID:31680349 PMID:32416898 PMID:32488064 More...
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NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
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G |
Chrdl1 |
chordin like 1 |
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ISO |
ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea |
ClinVar |
PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 |
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NCBI chrNW_004955490:5,108,308...5,218,679
Ensembl chrNW_004955490:5,108,308...5,257,445
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G |
Ltbp2 |
latent transforming growth factor beta binding protein 2 |
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ISO |
associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) |
RGD |
PMID:22025892 |
RGD:156451371 |
NCBI chrNW_004955523:919,220...1,005,747
Ensembl chrNW_004955523:932,347...1,003,256
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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 |
OMIM ClinVar |
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 |
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NCBI chrNW_004955509:4,437,044...4,457,819
Ensembl chrNW_004955509:4,436,750...4,457,819
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G |
Ebp |
EBP cholestenol delta-isomerase |
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ISO |
ClinVar Annotator: match by term: MEND syndrome |
OMIM ClinVar |
PMID:11038443 PMID:12503101 PMID:12966533 PMID:18414213 PMID:20949533 PMID:23307567 PMID:24459067 PMID:24700572 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
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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 chrNW_004955484:8,862,221...8,867,881
Ensembl chrNW_004955484:8,862,206...8,867,771
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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 chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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G |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 |
OMIM 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 chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597
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G |
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 chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622
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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 chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
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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 chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608
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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 chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
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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 chrNW_004955580:781,339...791,284
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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 chrNW_004955484:8,857,015...8,859,091
Ensembl chrNW_004955484:8,857,684...8,858,592
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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 chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470
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G |
Ltbp2 |
latent transforming growth factor beta binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma |
OMIM ClinVar |
PMID:19361779 PMID:19656777 PMID:20179738 PMID:21081970 PMID:22025892 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004955523:919,220...1,005,747
Ensembl chrNW_004955523:932,347...1,003,256
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G |
Ammecr1 |
AMMECR nuclear protein 1 |
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ISO |
ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
OMIM ClinVar |
PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 PMID:29174631 PMID:29193635 More...
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NCBI chrNW_004955490:5,538,445...5,657,959
Ensembl chrNW_004955490:5,538,415...5,658,097
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G |
Rtl9 |
retrotransposon Gag like 9 |
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ISO |
ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
ClinVar |
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NCBI chrNW_004955490:5,409,277...5,420,508
Ensembl chrNW_004955490:5,409,202...5,415,202
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G |
Tmem164 |
transmembrane protein 164 |
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ISO |
ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
ClinVar |
PMID:21681106 PMID:27811305 PMID:28089922 |
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NCBI chrNW_004955490:5,673,204...5,850,427
Ensembl chrNW_004955490:5,673,145...5,850,427
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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 chrNW_004955473:10,345,407...10,370,535
Ensembl chrNW_004955473:10,346,943...10,370,575
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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 chrNW_004955473:10,620,264...10,765,806
Ensembl chrNW_004955473:10,626,626...10,709,167
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Ace2 |
angiotensin converting enzyme 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495
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Ap1s2 |
adaptor related protein complex 1 subunit sigma 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chrNW_004955519:2,351,754...2,370,650
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Asb11 |
ankyrin repeat and SOCS box containing 11 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chrNW_004955519:2,875,287...2,896,122
Ensembl chrNW_004955519:2,875,212...2,896,191
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Asb9 |
ankyrin repeat and SOCS box containing 9 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chrNW_004955519:2,902,802...2,941,358
Ensembl chrNW_004955519:2,902,802...2,941,433
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Bmx |
BMX non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chrNW_004955519:2,638,081...2,689,601
Ensembl chrNW_004955519:2,638,081...2,689,650
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Ca5b |
carbonic anhydrase 5B |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chrNW_004955519:2,415,722...2,455,052
Ensembl chrNW_004955519:2,412,289...2,455,280
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Cltrn |
collectrin, amino acid transport regulator |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chrNW_004955519:2,522,154...2,569,722
Ensembl chrNW_004955519:2,522,155...2,570,972
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Fancb |
FA complementation group B |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814
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Mospd2 |
motile sperm domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chrNW_004955519:3,290,137...3,336,817
Ensembl chrNW_004955519:3,286,847...3,337,286
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Piga |
phosphatidylinositol glycan anchor biosynthesis class A |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
OMIM ClinVar |
PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 PMID:9536098 PMID:10087994 PMID:15307104 PMID:17576681 PMID:19377476 PMID:22305531 PMID:24259184 PMID:24259288 PMID:24357517 PMID:24706016 PMID:24759409 PMID:25326635 PMID:25590979 PMID:25741868 PMID:26467025 PMID:26545172 PMID:27353043 PMID:28133863 PMID:28441409 PMID:28492532 PMID:29159939 PMID:29310717 PMID:29314583 PMID:29656098 PMID:31164858 PMID:31175295 PMID:31618474 PMID:31704190 PMID:32176464 PMID:32220244 PMID:32452540 PMID:32694024 PMID:33333793 PMID:33763700 PMID:34355501 PMID:34782754 More...
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NCBI chrNW_004955519:2,852,605...2,865,848
Ensembl chrNW_004955519:2,852,555...2,867,600
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Pir |
pirin |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chrNW_004955519:2,698,207...2,813,201
Ensembl chrNW_004955519:2,698,172...2,813,206
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Vegfd |
vascular endothelial growth factor D |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chrNW_004955519:2,813,475...2,845,856
Ensembl chrNW_004955519:2,813,438...2,845,915
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Zrsr2 |
zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chrNW_004955519:2,377,955...2,402,446
Ensembl chrNW_004955519:2,378,246...2,394,561
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Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis |
OMIM ClinVar |
PMID:1303257 PMID:7920187 PMID:7984150 PMID:8037205 PMID:8104196 PMID:8999963 PMID:9452109 PMID:9711877 PMID:10820168 PMID:11095010 PMID:11134505 PMID:11232028 PMID:11754100 PMID:11916004 PMID:11920339 PMID:15166253 PMID:15872203 PMID:16319185 PMID:16580609 PMID:16825342 PMID:16843086 PMID:16845277 PMID:17229917 PMID:19179480 PMID:20159941 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27117808 PMID:27355191 PMID:28492532 PMID:29398133 PMID:29546600 PMID:33996673 More...
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NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
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Kif4a |
kinesin family member 4A |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, X-linked 100 |
OMIM ClinVar |
PMID:24812067 PMID:25741868 PMID:28492532 PMID:34346154 |
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NCBI chrNW_004955475:9,845,633...9,969,965
Ensembl chrNW_004955475:9,845,633...9,970,564
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Mid2 |
midline 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, X-linked 101 |
OMIM ClinVar |
PMID:24115387 PMID:25741868 |
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NCBI chrNW_004955490:7,977,771...8,168,912
Ensembl chrNW_004955490:7,973,211...8,088,427
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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 chrNW_004955565:1,479,040...1,602,070
Ensembl chrNW_004955565:1,479,040...1,602,070
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Klhl15 |
kelch like family member 15 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 |
OMIM ClinVar |
PMID:24817631 PMID:25644381 PMID:25741868 |
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NCBI chrNW_004955509:4,377,975...4,439,287
Ensembl chrNW_004955509:4,375,240...4,439,287
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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 chrNW_004955544:1,619,742...2,095,314
Ensembl chrNW_004955544:1,620,838...2,095,220
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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 |
OMIM ClinVar |
PMID:25644381 PMID:25741868 PMID:26394714 PMID:28492532 PMID:29267967 PMID:29758562 PMID:35887114 More...
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NCBI chrNW_004955544:586,991...1,152,195
Ensembl chrNW_004955544:584,686...1,151,938
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Msl3 |
MSL complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 |
ClinVar |
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NCBI chrNW_004955544:1,523,369...1,541,012
Ensembl chrNW_004955544:1,523,310...1,541,019
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Usp27x |
ubiquitin specific peptidase 27 X-linked |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105 |
OMIM ClinVar |
PMID:25644381 PMID:25741868 PMID:38182161 |
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NCBI chrNW_004955543:1,023,931...1,027,048
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Pak3 |
p21 (RAC1) activated kinase 3 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47 |
OMIM ClinVar |
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 chrNW_004955490:4,538,933...4,833,851
Ensembl chrNW_004955490:4,545,457...4,662,862
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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 chrNW_004955489:8,360,027...8,459,309
Ensembl chrNW_004955489:8,360,072...8,459,377
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Tspan7 |
tetraspanin 7 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 |
OMIM ClinVar |
PMID:10655063 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955566:75,576...203,512
Ensembl chrNW_004955566:75,576...206,827
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Rab39b |
RAB39B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72 |
OMIM ClinVar |
PMID:11050621 PMID:19377476 PMID:20159109 PMID:25741868 PMID:26467025 PMID:26739247 PMID:28492532 More...
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NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009
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Ftsj1 |
FtsJ RNA 2'-O-methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9 |
OMIM ClinVar |
PMID:8288232 PMID:10398246 PMID:15162322 PMID:15342698 PMID:17221867 PMID:25741868 More...
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NCBI chrNW_004955543:42,524...49,835
Ensembl chrNW_004955543:40,728...53,111
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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 |
OMIM ClinVar |
PMID:15185169 PMID:23020937 PMID:24721225 PMID:25741868 PMID:27222290 PMID:28554332 More...
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NCBI chrNW_004955475:9,992,888...10,056,197
Ensembl chrNW_004955475:9,992,215...10,056,348
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Brwd3 |
bromodomain and WD repeat domain containing 3 |
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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 |
OMIM ClinVar |
PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 PMID:28492532 PMID:30628072 PMID:36414205 PMID:36937954 More...
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NCBI chrNW_004955529:834,459...992,259
Ensembl chrNW_004955529:842,940...992,413
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Syp |
synaptophysin |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96 |
OMIM ClinVar |
PMID:19377476 PMID:23966691 PMID:25741868 |
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NCBI chrNW_004955543:675,294...689,579
Ensembl chrNW_004955543:675,294...689,686
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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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955475:550,643...671,771
Ensembl chrNW_004955475:551,159...671,747
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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 chrNW_004955559:1,647,685...1,650,553
Ensembl chrNW_004955559:1,647,685...1,650,553
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Usp9x |
ubiquitin specific peptidase 9 X-linked |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 | ClinVar Annotator: match by term: USP9X-related neurodevelopmental disorder |
OMIM ClinVar |
PMID:19377476 PMID:24607389 PMID:25741868 PMID:26833328 PMID:28492532 PMID:31443933 PMID:33298948 More...
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NCBI chrNW_004955565:1,479,040...1,602,070
Ensembl chrNW_004955565:1,479,040...1,602,070
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Arx |
aristaless related homeobox |
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ISO |
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 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 chrNW_004955509:5,326,145...5,338,250
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Fzd4 |
frizzled class receptor 4 |
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ISO |
ClinVar Annotator: match by term: Atrophia bulborum hereditaria |
ClinVar |
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
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NCBI chrNW_004955414:6,094,585...6,103,910
Ensembl chrNW_004955414:6,094,585...6,098,865
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Ndp |
norrin cystine knot growth factor NDP |
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ISO |
ClinVar Annotator: match by term: Atrophia bulborum hereditaria |
OMIM ClinVar |
PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 PMID:7795608 PMID:7814011 PMID:8069314 PMID:8240113 PMID:8268931 PMID:8535448 PMID:8790105 PMID:8832723 PMID:8990009 PMID:9143917 PMID:9143918 PMID:9382152 PMID:10484772 PMID:10773814 PMID:11337749 PMID:11748312 PMID:14635119 PMID:15776010 PMID:16970763 PMID:17296899 PMID:17334993 PMID:20340138 PMID:20385941 PMID:20491809 PMID:22563645 PMID:22786811 PMID:23141577 PMID:25711638 PMID:25741868 PMID:26158506 PMID:26547627 PMID:28492532 PMID:30097784 PMID:30311386 PMID:30452590 PMID:31030433 PMID:31456290 More...
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NCBI chrNW_004955516:4,218,703...4,244,774
Ensembl chrNW_004955516:4,218,703...4,244,846
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Prss23 |
serine protease 23 |
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ISO |
ClinVar Annotator: match by term: Atrophia bulborum hereditaria |
ClinVar |
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
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NCBI chrNW_004955414:6,202,383...6,213,521
Ensembl chrNW_004955414:6,202,383...6,213,521
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Tspan12 |
tetraspanin 12 |
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ISO |
ClinVar Annotator: match by term: Atrophia bulborum hereditaria |
ClinVar |
PMID:25250762 |
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NCBI chrNW_004955479:2,570,937...2,636,884
Ensembl chrNW_004955479:2,570,937...2,635,857
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Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 |
OMIM ClinVar |
PMID:17262856 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28794991 PMID:29353736 PMID:31288420 More...
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NCBI chrNW_004955534:152,291...154,183
Ensembl chrNW_004955534:152,300...154,183
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Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 |
OMIM ClinVar |
PMID:25741868 PMID:25772934 PMID:26741492 PMID:27488349 PMID:28050600 PMID:28492532 PMID:30423443 PMID:31243186 PMID:36252119 More...
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NCBI chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207
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Atp7a |
ATPase copper transporting alpha |
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ISO |
ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome |
OMIM ClinVar |
PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:10319589 PMID:10739752 PMID:11241493 PMID:11350187 PMID:11431706 PMID:15596607 PMID:15981243 PMID:16199547 PMID:17108763 PMID:18414213 PMID:19153371 PMID:20170900 PMID:20652413 PMID:20799318 PMID:21208200 PMID:21494555 PMID:21716286 PMID:22210628 PMID:22552817 PMID:23281160 PMID:24033266 PMID:24919650 PMID:25741868 PMID:28119449 PMID:28492532 More...
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NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393
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Actrt1 |
actin related protein T1 |
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ISO |
ClinVar Annotator: match by term: Lowe syndrome |
ClinVar |
PMID:17142121 |
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NCBI chrNW_004955473:6,849,016...6,850,445
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Apln |
apelin |
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ISO |
ClinVar Annotator: match by term: Lowe syndrome |
ClinVar |
PMID:22965764 PMID:28492532 |
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NCBI chrNW_004955473:5,346,822...5,356,359
Ensembl chrNW_004955473:5,346,747...5,356,359
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Ocrl |
OCRL inositol polyphosphate-5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome |
OMIM ClinVar |
PMID:8504307 PMID:9199559 PMID:9536098 PMID:9632163 PMID:9682219 PMID:9788721 PMID:10364518 PMID:10767176 PMID:10923037 PMID:11149618 PMID:14981612 PMID:15627218 PMID:16199547 PMID:16381338 PMID:17142121 PMID:17162149 PMID:17384968 PMID:17576681 PMID:17765681 PMID:18500547 PMID:19390221 PMID:19795375 PMID:19902262 PMID:20301653 PMID:21031565 PMID:21225285 PMID:21233288 PMID:21666675 PMID:22381590 PMID:22965764 PMID:23047739 PMID:24081861 PMID:24711037 PMID:24912603 PMID:25305077 PMID:25326635 PMID:25480730 PMID:25741868 PMID:26694549 PMID:27059748 PMID:27625797 PMID:27708066 PMID:28492532 PMID:28669993 PMID:28803024 PMID:28973083 PMID:29300302 PMID:30773290 PMID:31672324 PMID:31674016 PMID:32712215 PMID:34125233 PMID:34139759 PMID:34586410 PMID:34680992 PMID:35006361 PMID:35919034 More...
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NCBI chrNW_004955473:5,429,084...5,482,377
Ensembl chrNW_004955473:5,431,395...5,482,385
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Sash3 |
SAM and SH3 domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Lowe syndrome |
ClinVar |
PMID:22965764 PMID:28492532 |
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NCBI chrNW_004955473:5,224,635...5,237,066
Ensembl chrNW_004955473:5,222,408...5,237,260
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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: Lowe syndrome |
ClinVar |
PMID:17142121 |
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NCBI chrNW_004955473:5,498,738...5,572,863
Ensembl chrNW_004955473:5,498,674...5,573,169
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Xpnpep2 |
X-prolyl aminopeptidase 2 |
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ISO |
ClinVar Annotator: match by term: Lowe syndrome |
ClinVar |
PMID:22965764 PMID:28492532 |
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NCBI chrNW_004955473:5,248,065...5,274,469
Ensembl chrNW_004955473:5,245,746...5,274,698
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Zdhhc9 |
zinc finger DHHC-type palmitoyltransferase 9 |
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ISO |
ClinVar Annotator: match by term: Lowe syndrome |
ClinVar |
PMID:22965764 PMID:28492532 |
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NCBI chrNW_004955473:5,174,575...5,208,767
Ensembl chrNW_004955473:5,174,563...5,208,767
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Mid1 |
midline 1 |
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ISO |
ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I |
OMIM ClinVar |
PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 PMID:17221865 PMID:18360914 PMID:18949047 PMID:20671548 PMID:21326312 PMID:23757202 PMID:25207814 PMID:25304119 PMID:25741868 PMID:25874572 PMID:27749392 PMID:28492532 PMID:29456483 PMID:32926417 More...
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NCBI chrNW_004955544:2,379,766...2,718,282
Ensembl chrNW_004955544:2,484,854...2,719,112
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Mbtps2 |
membrane bound transcription factor peptidase, site 2 |
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ISO |
ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19 |
OMIM ClinVar |
PMID:25741868 PMID:27380894 |
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NCBI chrNW_004955509:2,185,054...2,222,497
Ensembl chrNW_004955509:2,184,522...2,222,505
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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 chrNW_004955473:2,002,475...2,291,868
Ensembl chrNW_004955473:2,002,725...2,289,662
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Ar |
androgen receptor |
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ISO |
ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome | ClinVar Annotator: match by term: Reifenstein syndrome |
ClinVar OMIM |
PMID:1303262 PMID:1307250 PMID:1430233 PMID:1598912 PMID:2010552 PMID:2594783 PMID:2918059 PMID:7581399 PMID:7671849 PMID:8040309 PMID:8096390 PMID:8097257 PMID:8281139 PMID:8325932 PMID:8446106 PMID:8628719 PMID:8723113 PMID:8823308 PMID:8824883 PMID:9345099 PMID:9543136 PMID:9768671 PMID:9851768 PMID:9856504 PMID:9921903 PMID:10221692 PMID:10485299 PMID:10502786 PMID:10543676 PMID:10946887 PMID:10999818 PMID:11788616 PMID:11788673 PMID:15001585 PMID:15109605 PMID:15925895 PMID:16083860 PMID:16450583 PMID:16804045 PMID:20011049 PMID:23808476 PMID:24321103 PMID:24737579 PMID:25241384 PMID:25326637 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26778393 PMID:26806084 PMID:27267075 PMID:27583472 PMID:27854360 PMID:28186600 PMID:28261839 PMID:28492532 PMID:28624954 PMID:29237170 PMID:30668521 PMID:32985417 PMID:33750429 More...
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NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
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Arx |
aristaless related homeobox |
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ISO |
ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome |
OMIM 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: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 More...
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NCBI chrNW_004955509:5,326,145...5,338,250
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Bex2 |
brain expressed X-linked 2 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:31690835 |
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NCBI chrNW_004955548:439,061...505,418
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Bex3 |
brain expressed X-linked 3 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:31690835 |
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NCBI chrNW_004955548:526,844...528,406
Ensembl chrNW_004955548:526,549...529,753
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Esx1 |
ESX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
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NCBI chrNW_004955548:1,087,441...1,095,070
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Fam199x |
family with sequence similarity 199, X-linked |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
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NCBI chrNW_004955548:1,017,047...1,046,580
Ensembl chrNW_004955548:1,016,991...1,046,580
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Gjc2 |
gap junction protein gamma 2 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:15192806 PMID:23143715 PMID:25741868 PMID:28492532 PMID:31319225 |
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NCBI chrNW_004955581:291,537...294,752
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Il1rapl2 |
interleukin 1 receptor accessory protein like 2 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
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NCBI chrNW_004955548:1,462,746...2,623,622
Ensembl chrNW_004955548:1,518,695...2,623,232
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Lmnb1 |
lamin B1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004955521:4,583,691...4,612,271
Ensembl chrNW_004955521:4,583,671...4,612,271
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Morf4l2 |
mortality factor 4 like 2 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 PMID:31690835 More...
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NCBI chrNW_004955548:682,409...685,886
Ensembl chrNW_004955548:682,409...685,900
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Plp1 |
proteolipid protein 1 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild |
OMIM ClinVar |
PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7488049 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:9633722 PMID:9634530 PMID:10319897 PMID:10417279 PMID:11071483 PMID:11093273 PMID:12297985 PMID:12605435 PMID:12910435 PMID:15712223 PMID:16380909 PMID:16778599 PMID:18414213 PMID:18470932 PMID:18835559 PMID:19396823 PMID:20022439 PMID:20301361 PMID:21679407 PMID:22016529 PMID:22343157 PMID:22695888 PMID:23347225 PMID:24088041 PMID:24139698 PMID:24519770 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26786043 PMID:26795593 PMID:27535533 PMID:28286750 PMID:28492532 PMID:29451896 PMID:31690835 More...
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NCBI chrNW_004955548:781,522...797,246
Ensembl chrNW_004955548:781,015...797,935
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Rab9b |
RAB9B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild |
ClinVar |
PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7488049 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:9633722 PMID:9634530 PMID:10319897 PMID:10417279 PMID:11071483 PMID:11093273 PMID:12297985 PMID:12605435 PMID:12910435 PMID:15712223 PMID:16380909 PMID:16778599 PMID:18414213 PMID:18470932 PMID:18835559 PMID:19396823 PMID:20022439 PMID:20301361 PMID:21679407 PMID:22016529 PMID:22343157 PMID:22695888 PMID:23347225 PMID:24088041 PMID:24139698 PMID:24519770 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26786043 PMID:26795593 PMID:27535533 PMID:28286750 PMID:28492532 PMID:29451896 PMID:31690835 More...
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NCBI chrNW_004955548:825,208...829,815
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Slc25a53 |
solute carrier family 25 member 53 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
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NCBI chrNW_004955548:947,623...1,008,085
Ensembl chrNW_004955548:947,623...1,003,086
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Tceal1 |
transcription elongation factor A like 1 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 PMID:31690835 More...
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NCBI chrNW_004955548:655,219...655,671
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Tceal7 |
transcription elongation factor A like 7 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:31690835 |
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NCBI chrNW_004955548:467,664...470,196
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Tceal8 |
transcription elongation factor A like 8 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:31690835 |
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NCBI chrNW_004955548:391,202...393,533
Ensembl chrNW_004955548:391,202...393,533
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Tceal9 |
transcription elongation factor A like 9 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:31690835 |
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NCBI chrNW_004955548:505,524...507,210
Ensembl chrNW_004955548:505,592...507,360
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Zcchc18 |
zinc finger CCHC-type containing 18 |
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ISO |
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease |
ClinVar |
PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More...
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NCBI chrNW_004955548:956,736...959,379
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Acox1 |
acyl-CoA oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy |
OMIM ClinVar |
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 chrNW_004955506:6,286,824...6,309,764
Ensembl chrNW_004955506:6,286,648...6,312,716
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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 chrNW_004955506:6,252,146...6,286,675
Ensembl chrNW_004955506:6,250,726...6,287,093
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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 chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
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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 chrNW_004955413:4,251,608...4,262,095
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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 chrNW_004955493:6,023...31,418
Ensembl chrNW_004955493:6,023...31,418
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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 chrNW_004955413:6,471,933...6,480,475
Ensembl chrNW_004955413:6,471,953...6,480,469
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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 chrNW_004955413:4,511,251...4,524,037
Ensembl chrNW_004955413:4,516,532...4,522,831
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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 chrNW_004955413:4,652,156...4,660,897
Ensembl chrNW_004955413:4,652,308...4,660,304
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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 chrNW_004955413:4,663,643...4,670,454
Ensembl chrNW_004955413:4,662,303...4,670,638
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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 chrNW_004955413:4,620,450...4,630,860
Ensembl chrNW_004955413:4,620,450...4,630,860
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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 chrNW_004955413:6,707,003...6,715,689
Ensembl chrNW_004955413:6,707,689...6,715,689
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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 chrNW_004955413:4,102,740...4,107,739
Ensembl chrNW_004955413:4,103,126...4,107,420
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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 chrNW_004955413:4,400,326...4,422,110
Ensembl chrNW_004955413:4,408,390...4,421,535
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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 chrNW_004955413:4,448,711...4,450,917
Ensembl chrNW_004955413:4,448,917...4,450,553
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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 chrNW_004955413:4,191,619...4,228,225
Ensembl chrNW_004955413:4,191,619...4,228,225
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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 chrNW_004955413:5,267,548...5,276,969
Ensembl chrNW_004955413:5,267,161...5,277,090
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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 chrNW_004955413:5,256,523...5,261,385
Ensembl chrNW_004955413:5,256,440...5,262,938
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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 chrNW_004955413:4,690,637...4,719,929
Ensembl chrNW_004955413:4,690,637...4,719,929
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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 chrNW_004955413:4,337,117...4,343,640
Ensembl chrNW_004955413:4,337,117...4,343,722
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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 chrNW_004955413:4,563,864...4,570,809
Ensembl chrNW_004955413:4,563,864...4,570,809
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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 chrNW_004955413:4,498,625...4,506,769
Ensembl chrNW_004955413:4,498,625...4,506,769
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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 chrNW_004955413:6,692,343...6,705,760
Ensembl chrNW_004955413:6,686,398...6,703,173
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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 chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
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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 chrNW_004955413:6,493,734...6,516,315
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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 chrNW_004955413:4,440,693...4,447,419
Ensembl chrNW_004955413:4,440,693...4,447,416
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Gpr162 |
G protein-coupled receptor 162 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:4,425,609...4,428,901
Ensembl chrNW_004955413:4,425,344...4,428,901
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Iffo1 |
intermediate filament family orphan 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:4,167,461...4,180,043
Ensembl chrNW_004955413:4,167,461...4,180,042
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Ing4 |
inhibitor of growth family member 4 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:4,263,647...4,274,476
Ensembl chrNW_004955413:4,263,647...4,274,476
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G |
Lag3 |
lymphocyte activating 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:4,379,529...4,385,456
Ensembl chrNW_004955413:4,378,972...4,385,909
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G |
LOC102009926 |
chromosome unknown open reading frame, human C12orf57 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:4,524,236...4,525,760
Ensembl chrNW_004955413:4,524,236...4,525,760
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G |
Lpar5 |
lysophosphatidic acid receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:4,238,312...4,249,869
Ensembl chrNW_004955413:4,238,319...4,249,869
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G |
Lpcat3 |
lysophosphatidylcholine acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:4,571,028...4,605,097
Ensembl chrNW_004955413:4,571,028...4,605,097
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G |
Lrrc23 |
leucine rich repeat containing 23 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:4,491,443...4,498,283
Ensembl chrNW_004955413:4,491,573...4,498,283
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G |
Ltbr |
lymphotoxin beta receptor |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:4,031,659...4,038,396
Ensembl chrNW_004955413:4,031,754...4,038,992
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G |
Mfap5 |
microfibril associated protein 5 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:6,401,429...6,415,177
Ensembl chrNW_004955413:6,402,293...6,413,992
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G |
Mlf2 |
myeloid leukemia factor 2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:4,359,936...4,364,284
Ensembl chrNW_004955413:4,359,936...4,364,284
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G |
Mrpl51 |
mitochondrial ribosomal protein L51 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:4,135,206...4,136,392
Ensembl chrNW_004955413:4,135,206...4,136,392
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G |
Nanog |
Nanog homeobox |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:6,561,323...6,565,770
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G |
Ncapd2 |
non-SMC condensin I complex subunit D2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:4,136,492...4,160,550
Ensembl chrNW_004955413:4,137,216...4,160,550
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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 chrNW_004955413:6,737,785...6,751,672
Ensembl chrNW_004955413:6,737,785...6,754,162
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G |
Nop2 |
NOP2 nucleolar protein |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:4,180,463...4,190,827
Ensembl chrNW_004955413:4,180,573...4,190,490
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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 chrNW_004955413:4,429,558...4,440,602
Ensembl chrNW_004955413:4,429,633...4,440,256
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
OMIM ClinVar |
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:33389129 PMID:33584783 PMID:35346031 More...
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NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766
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G |
Phb2 |
prohibitin 2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:4,557,969...4,563,697
Ensembl chrNW_004955413:4,558,259...4,563,582
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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 chrNW_004955413:4,309,104...4,314,961
Ensembl chrNW_004955413:4,309,104...4,314,961
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G |
Ptms |
parathymosin |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:4,376,955...4,378,253
Ensembl chrNW_004955413:4,376,955...4,377,759
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G |
Ptpn6 |
protein tyrosine phosphatase non-receptor type 6 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:4,525,954...4,547,177
Ensembl chrNW_004955413:4,525,954...4,547,177
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G |
Rbp5 |
retinol binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:4,682,477...4,689,949
Ensembl chrNW_004955413:4,682,477...4,689,949
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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 |
|
NCBI chrNW_004955413:6,298,833...6,362,812
Ensembl chrNW_004955413:6,306,414...6,346,278
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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 |
|
NCBI chrNW_004955413:4,000,083...4,023,596
Ensembl chrNW_004955413:3,999,613...4,023,596
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G |
Tapbpl |
TAP binding protein like |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:4,108,044...4,116,413
Ensembl chrNW_004955413:4,108,052...4,115,760
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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 chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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G |
Tpi1 |
triosephosphate isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
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G |
Usp5 |
ubiquitin specific peptidase 5 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:4,451,530...4,466,832
Ensembl chrNW_004955413:4,451,622...4,466,832
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G |
Vamp1 |
vesicle associated membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:4,117,367...4,124,149
Ensembl chrNW_004955413:4,117,367...4,124,149
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G |
Znf384 |
zinc finger protein 384 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:4,277,059...4,302,638
Ensembl chrNW_004955413:4,278,248...4,290,550
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G |
Pgk1 |
phosphoglycerate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-Related Disorder | ClinVar Annotator: match by term: PGK1-related condition |
OMIM ClinVar |
PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 PMID:3840329 PMID:4676843 PMID:5764452 PMID:6770677 PMID:6933565 PMID:7391028 PMID:7577653 PMID:8043870 PMID:9512313 PMID:9744480 PMID:16412025 PMID:16567715 PMID:16671097 PMID:16740138 PMID:19157875 PMID:22348148 PMID:23934111 PMID:25741868 PMID:26975778 PMID:27848944 PMID:28492532 PMID:31175295 More...
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NCBI chrNW_004955557:1,566,534...1,584,799
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Phosphoribosylpyrophosphate synthetase superactivity |
OMIM ClinVar |
PMID:171280 PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:17701900 PMID:19161981 PMID:20301731 PMID:24033266 PMID:25741868 PMID:26089585 PMID:28492532 PMID:28967191 More...
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NCBI chrNW_004955490:8,303,775...8,330,713
Ensembl chrNW_004955490:8,303,775...8,330,713
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G |
Wnk3 |
WNK lysine deficient protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Prieto syndrome |
OMIM ClinVar |
PMID:3121220 PMID:25741868 PMID:26350204 PMID:35678782 |
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NCBI chrNW_004955475:1,441,068...1,641,599
Ensembl chrNW_004955475:1,446,498...1,642,061
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G |
Pof1b |
POF1B actin binding protein |
|
ISO |
ClinVar Annotator: match by term: Premature ovarian failure 2B |
OMIM ClinVar |
PMID:15459172 PMID:16773570 PMID:21940798 PMID:25676666 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004955529:4,137,746...4,224,542
Ensembl chrNW_004955529:4,136,480...4,224,537
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G |
Znf711 |
zinc finger protein 711 |
|
ISO |
ClinVar Annotator: match by term: Premature ovarian failure 2B |
ClinVar |
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NCBI chrNW_004955529:4,108,202...4,134,696
Ensembl chrNW_004955529:4,111,128...4,136,415
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G |
Cldn16 |
claudin 16 |
|
ISO |
ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement |
ClinVar |
|
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NCBI chrNW_004955420:17,684,752...17,714,639
Ensembl chrNW_004955420:17,693,573...17,715,211
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G |
Cldn19 |
claudin 19 |
|
ISO |
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement |
OMIM ClinVar |
PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 PMID:25410674 PMID:25741868 PMID:27530400 PMID:28492532 PMID:28893421 PMID:33025205 PMID:33532864 PMID:34805638 More...
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NCBI chrNW_004955537:2,265,711...2,271,096
Ensembl chrNW_004955537:2,265,711...2,271,289
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G |
Egf |
epidermal growth factor |
|
ISO |
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
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G |
Pqbp1 |
polyglutamine binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Renpenning syndrome |
OMIM ClinVar |
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 chrNW_004955543:430,324...434,205
Ensembl chrNW_004955543:430,853...434,205
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G |
Slc35a2 |
solute carrier family 35 member A2 |
|
ISO |
ClinVar Annotator: match by term: Renpenning syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32903913 |
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NCBI chrNW_004955543:434,265...443,460
Ensembl chrNW_004955543:434,405...443,508
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G |
Ofd1 |
OFD1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa 23 |
OMIM ClinVar |
PMID:10892847 PMID:22619378 PMID:25741868 PMID:28492532 PMID:35112477 |
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NCBI chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070
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G |
Ccdc22 |
coiled-coil domain containing 22 |
|
ISO |
ClinVar Annotator: match by term: CCDC22-related condition | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 |
OMIM ClinVar |
PMID:19377476 PMID:21826058 PMID:23563313 PMID:24916641 PMID:25644381 PMID:25741868 PMID:28492532 PMID:31971710 More...
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NCBI chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753
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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 chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
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G |
Arhgap4 |
Rho GTPase activating protein 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 chrNW_004955580:586,986...600,299
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G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
|
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 chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734
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G |
Avpr2 |
arginine vasopressin receptor 2 |
|
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 chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
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G |
Bcap31 |
B cell receptor associated protein 31 |
|
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 chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168
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G |
Dnase1l1 |
deoxyribonuclease 1 like 1 |
|
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 chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243
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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 chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
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G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
|
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 chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849
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G |
Fam50a |
family with sequence similarity 50 member A |
|
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 chrNW_004955580:941,620...947,763
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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 chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
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 chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
|
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 chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081
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G |
Hcfc1 |
host cell factor C1 |
|
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 chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
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 chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
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 chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
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G |
Irak1 |
interleukin 1 receptor associated kinase 1 |
|
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 chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622
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G |
L1cam |
L1 cell adhesion molecule |
|
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 chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
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G |
Lage3 |
L antigen family member 3 |
|
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 chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617
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G |
Mecp2 |
methyl-CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly |
ClinVar OMIM |
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 chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
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G |
Naa10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
|
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 chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608
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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 chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917
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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 chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772
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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 chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445
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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 chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
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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 chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439
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G |
Slc10a3 |
solute carrier family 10 member 3 |
|
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 chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673
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G |
Slc6a8 |
solute carrier family 6 member 8 |
|
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 chrNW_004955580:419,696...426,727
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G |
Srpk3 |
SRSF protein kinase 3 |
|
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 chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709
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G |
Ssr4 |
signal sequence receptor subunit 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 chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
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 chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791
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G |
Tex28 |
testis expressed 28 |
|
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 chrNW_004955580:781,339...791,284
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G |
Tktl1 |
transketolase like 1 |
|
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 chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470
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G |
Ubl4a |
ubiquitin like 4A |
|
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 chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368
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G |
Bcorl1 |
BCL6 corepressor like 1 |
|
ISO |
ClinVar Annotator: match by term: Shukla-Vernon syndrome |
OMIM ClinVar |
PMID:24047651 PMID:24896186 PMID:25596268 PMID:25741868 PMID:26132940 PMID:26879601 PMID:26980726 PMID:27470916 PMID:28492532 PMID:29692343 PMID:30941876 PMID:33810051 PMID:34716235 PMID:35178361 More...
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NCBI chrNW_004955473:4,990,974...5,054,829
Ensembl chrNW_004955473:4,989,366...5,054,925
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G |
Alas2 |
5'-aminolevulinate synthase 2 |
onset |
ISO |
ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia DNA:mutations:exons:p.K299Q,A172T(human) DNA:mutation:exon: 1236 G> A, p.C395Y (human) |
OMIM ClinVar RGD |
PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 PMID:8107717 PMID:9226183 PMID:9488633 PMID:9858242 PMID:10029606 PMID:10444183 PMID:11110715 PMID:12031592 PMID:12531813 PMID:12663458 PMID:16121195 PMID:16446107 PMID:18823803 PMID:20848343 PMID:21309041 PMID:21653323 PMID:22269113 PMID:22740690 PMID:22778251 PMID:22995991 PMID:23315997 PMID:23409301 PMID:24166784 PMID:25741868 PMID:28492532 PMID:28840292 PMID:30678654 PMID:32297424 More...
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RGD:11035241 RGD:11035243 |
NCBI chrNW_004955475:2,362,368...2,382,680
Ensembl chrNW_004955475:2,362,118...2,377,864
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G |
Apex2 |
apurinic/apyrimidinic endodeoxyribonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 |
ClinVar |
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NCBI chrNW_004955475:2,343,992...2,359,492
Ensembl chrNW_004955475:2,344,087...2,359,906
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G |
Slc25a38 |
solute carrier family 25 member 38 |
|
ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955420:29,988,147...29,996,485
Ensembl chrNW_004955420:29,988,147...29,996,486
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G |
Gpc3 |
glypican 3 |
|
ISO |
ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 |
OMIM ClinVar |
PMID:9950367 PMID:10402475 PMID:10814714 PMID:12713262 PMID:16158429 PMID:17603795 PMID:17850639 PMID:18203194 PMID:19215053 PMID:20301398 PMID:23606591 PMID:24459012 PMID:24728327 PMID:25741868 PMID:26321508 PMID:26467025 PMID:28492532 More...
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NCBI chrNW_004955473:969,627...1,431,706
Ensembl chrNW_004955473:969,800...1,431,483
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G |
Gpc4 |
glypican 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004955473:1,546,615...1,655,822
Ensembl chrNW_004955473:1,546,326...1,655,822
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G |
Med12 |
mediator complex subunit 12 |
|
ISO |
ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
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G |
Retsat |
retinol saturase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19139408 |
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NCBI chrNW_004955424:2,107,602...2,122,029
Ensembl chrNW_004955424:2,107,602...2,122,029
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G |
Ofd1 |
OFD1 centriole and centriolar satellite protein |
|
ISO |
ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 2 |
OMIM ClinVar |
PMID:11179005 PMID:12595504 PMID:16783569 PMID:19800048 PMID:22353940 PMID:23033313 PMID:25741868 PMID:28492532 PMID:30401917 PMID:33847015 PMID:35112477 More...
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NCBI chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070
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G |
Fgf16 |
fibroblast growth factor 16 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 8 |
OMIM ClinVar |
PMID:23709756 PMID:24878828 |
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NCBI chrNW_004955557:906,361...915,590
Ensembl chrNW_004955557:905,576...919,415
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Ap1s2 |
adaptor related protein complex 1 subunit sigma 2 |
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ISO |
ClinVar Annotator: match by term: Pettigrew syndrome |
OMIM ClinVar |
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 chrNW_004955519:2,351,754...2,370,650
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Cul4b |
cullin 4B |
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ISO |
ClinVar Annotator: match by term: Pettigrew syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955572:1,308,491...1,365,147
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Ddx3x |
DEAD-box helicase 3 X-linked |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type |
ClinVar |
PMID:2563148 PMID:25741868 PMID:26235985 |
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NCBI chrNW_004955565:1,387,043...1,403,624
Ensembl chrNW_004955565:1,386,973...1,404,220
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Kdm5c |
lysine demethylase 5C |
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ISO |
ClinVar Annotator: match by term: KDM5C-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type |
OMIM ClinVar |
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 More...
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NCBI chrNW_004955475:243,666...278,064
Ensembl chrNW_004955475:243,666...278,627
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Phf8 |
PHD finger protein 8 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type |
OMIM ClinVar |
PMID:10398231 PMID:16199551 PMID:17594395 PMID:17661819 PMID:25741868 PMID:28492532 PMID:35469323 More...
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NCBI chrNW_004955475:1,105,619...1,230,758
Ensembl chrNW_004955475:1,105,619...1,230,756
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Sms |
spermine synthase |
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ISO |
ClinVar Annotator: match by term: SMS-Related Disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Snyder type |
OMIM 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 chrNW_004955509:2,277,501...2,328,612
Ensembl chrNW_004955509:2,276,878...2,329,620
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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 chrNW_004955498:1,012,323...1,497,031
Ensembl chrNW_004955498:1,012,555...1,492,616
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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 chrNW_004955486:5,115,469...5,890,028
Ensembl chrNW_004955486:5,116,677...5,872,167
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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 |
OMIM ClinVar |
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 chrNW_004955475:550,643...671,771
Ensembl chrNW_004955475:551,159...671,747
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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 chrNW_004955486:8,857,693...8,921,821
Ensembl chrNW_004955486:8,857,693...8,921,821
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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 |
OMIM ClinVar |
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 More...
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NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
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Rpl10 |
ribosomal protein L10 |
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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 chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439
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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 chrNW_004955509:5,007,385...5,319,683
Ensembl chrNW_004955509:5,007,182...5,319,894
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Clic2 |
chloride intracellular channel 2 |
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ISO |
ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome |
ClinVar |
PMID:25434005 |
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NCBI chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389
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Rab39b |
RAB39B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Basal ganglia disorder with mental retardation | ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome |
OMIM ClinVar |
PMID:1674730 PMID:4025396 PMID:25434005 PMID:25741868 PMID:26399558 PMID:26467025 More...
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NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009
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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 chrNW_004955475:11,748,502...12,012,884
Ensembl chrNW_004955475:11,748,365...12,013,241
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Las1l |
LAS1 like ribosome biogenesis factor |
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ISO |
ClinVar Annotator: match by term: Wilson-Turner syndrome |
OMIM ClinVar |
PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955475:5,143,641...5,189,075
Ensembl chrNW_004955475:5,164,877...5,189,928
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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 chrNW_004955475:4,676,190...5,162,108
Ensembl chrNW_004955475:5,126,158...5,162,108
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Foxp3 |
forkhead box P3 |
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ISO |
OMIM:301000 | OMIM:614493 |
MouseDO |
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NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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Was |
WASP actin nucleation promoting factor |
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ISO |
ClinVar Annotator: match by term: Aldrich syndrome | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated |
OMIM ClinVar |
PMID:2906042 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7735919 PMID:7753869 PMID:7795648 PMID:8069912 PMID:8528198 PMID:8528199 PMID:8595430 PMID:8673127 PMID:8682510 PMID:8743175 PMID:8931701 PMID:9126958 PMID:9326235 PMID:9536098 PMID:9657775 PMID:10202051 PMID:10447259 PMID:10449748 PMID:10653325 PMID:10691337 PMID:10737997 PMID:11242115 PMID:11298372 PMID:11442475 PMID:11745360 PMID:11793485 PMID:12073025 PMID:12199801 PMID:12351383 PMID:12437929 PMID:12727931 PMID:12969986 PMID:14504083 PMID:14566484 PMID:14612666 PMID:15284122 PMID:15497008 PMID:16091449 PMID:16199547 PMID:16511828 PMID:16638962 PMID:16804117 PMID:17065640 PMID:17213309 PMID:17250667 PMID:17390083 PMID:17400488 PMID:17576681 PMID:17703096 PMID:18162713 PMID:19006568 PMID:19308710 PMID:19817875 PMID:19863535 PMID:20173115 PMID:20232122 PMID:20513746 PMID:20546529 PMID:20959042 PMID:21185603 PMID:21710275 PMID:21771083 PMID:22038941 PMID:22426750 PMID:22523910 PMID:22679904 PMID:23023736 PMID:23033889 PMID:23527602 PMID:23689198 PMID:24210885 PMID:24728327 PMID:25091438 PMID:25332606 PMID:25741868 PMID:25792466 PMID:25931402 PMID:27885891 PMID:27993330 PMID:28492532 PMID:28748566 PMID:30981783 PMID:31352750 PMID:31965297 PMID:32812413 PMID:33225392 PMID:34355501 PMID:35729272 PMID:35874699 More...
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NCBI chrNW_004955543:243,618...253,489
Ensembl chrNW_004955543:247,631...253,274
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Washc4 |
WASH complex subunit 4 |
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ISO |
OMIM:301000 |
MouseDO |
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NCBI chrNW_004955405:39,451,423...39,499,295
Ensembl chrNW_004955405:39,451,404...39,499,295
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Wipf1 |
WAS/WASL interacting protein family member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004955449:760,382...831,007
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Wrn |
WRN RecQ like helicase |
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ISO |
ClinVar Annotator: match by term: Wiskott-Aldrich syndrome |
ClinVar |
PMID:10069711 PMID:10220139 PMID:16786514 PMID:18414213 PMID:19824023 PMID:24728327 PMID:25018888 PMID:25637295 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004955463:7,495,243...7,633,532
Ensembl chrNW_004955463:7,525,100...7,633,596
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Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
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ISO |
ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955449:661,310...683,873
Ensembl chrNW_004955449:661,304...683,873
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Wipf1 |
WAS/WASL interacting protein family member 1 |
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ISO |
ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22231303 PMID:24033266 PMID:25741868 PMID:27742395 PMID:28492532 More...
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NCBI chrNW_004955449:760,382...831,007
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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 |
OMIM ClinVar |
PMID:14560308 PMID:21739585 PMID:23211637 PMID:25046119 PMID:25741868 PMID:26029706 PMID:28492532 PMID:29276006 More...
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NCBI chrNW_004955475:1,703,374...1,752,710
Ensembl chrNW_004955475:1,703,374...1,752,710
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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 chrNW_004955475:1,698,926...1,703,404
Ensembl chrNW_004955475:1,698,136...1,703,404
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Dmd |
dystrophin |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
ClinVar |
PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 |
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NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
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Gk |
glycerol kinase |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
ClinVar |
PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 |
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NCBI chrNW_004955531:106,761...183,347
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Nr0b1 |
nuclear receptor subfamily 0 group B member 1 |
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ISO |
ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
OMIM ClinVar |
PMID:6891556 PMID:7609262 PMID:7990953 PMID:7990958 PMID:8636263 PMID:8855822 PMID:9003500 PMID:9063431 PMID:9195207 PMID:9360549 PMID:9415399 PMID:9529340 PMID:9536098 PMID:10210708 PMID:10361383 PMID:10522996 PMID:10599709 PMID:10675358 PMID:10848616 PMID:11113848 PMID:11443184 PMID:11549627 PMID:11738790 PMID:11748841 PMID:11748852 PMID:11788621 PMID:12519885 PMID:12629128 PMID:15841486 PMID:16459121 PMID:16684822 PMID:17164309 PMID:17504899 PMID:17576681 PMID:17587282 PMID:18339285 PMID:19672728 PMID:20573681 PMID:20685758 PMID:21029627 PMID:21408189 PMID:21739173 PMID:21925982 PMID:22761912 PMID:23018754 PMID:23384712 PMID:23512386 PMID:25741868 PMID:26467025 PMID:26500747 PMID:26980296 PMID:28492532 PMID:28546232 PMID:30620004 PMID:31263616 PMID:32482417 PMID:34193132 More...
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NCBI chrNW_004955531:567,491...572,329
Ensembl chrNW_004955531:567,173...572,331
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Tab3 |
TGF-beta activated kinase 1 (MAP3K7) binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
ClinVar |
PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 |
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NCBI chrNW_004955535:3,547,556...3,612,705
Ensembl chrNW_004955535:3,585,243...3,612,790
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Tasl |
TLR adaptor interacting with endolysosomal SLC15A4 |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
ClinVar |
PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 |
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NCBI chrNW_004955531:207,614...293,127
Ensembl chrNW_004955531:267,216...293,127
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Btk |
Bruton tyrosine kinase |
ameliorates |
ISO |
ClinVar Annotator: match by term: X-linked agammaglobulinemia human gene in a mouse model Human gene in mouse model |
OMIM ClinVar RGD |
PMID:2896233 PMID:4697357 PMID:7554467 PMID:7627183 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162056 PMID:8164701 PMID:8164707 PMID:8380905 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9536098 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10678660 PMID:10737994 PMID:10754312 PMID:10844531 PMID:10859027 PMID:10887125 PMID:11102984 PMID:11206059 PMID:11410123 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11555397 PMID:11564824 PMID:11586956 PMID:11668622 PMID:11742281 PMID:11809909 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:12768435 PMID:14974089 PMID:15112668 PMID:15142874 PMID:15661032 PMID:16053733 PMID:16159644 PMID:16160918 PMID:16199547 PMID:16712653 PMID:16751014 PMID:16862044 PMID:16913189 PMID:16951917 PMID:17045652 PMID:17164954 PMID:17327079 PMID:17576681 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:20574453 PMID:21397315 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24383975 PMID:24820629 PMID:24885015 PMID:25142992 PMID:25525159 PMID:25741868 PMID:25777788 PMID:26915675 PMID:26981933 PMID:27512878 PMID:27577878 PMID:27980540 PMID:28492532 PMID:29424453 PMID:29503650 PMID:30072168 PMID:30240888 PMID:30564228 PMID:30627929 PMID:31803177 PMID:32499645 PMID:32581362 PMID:33042921 PMID:34029777 PMID:34975878 More...
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RGD:124713551 RGD:124715475 |
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
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Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
OMIM:300310 | OMIM:300755 |
MouseDO |
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NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
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G |
Rpgr |
retinitis pigmentosa GTPase regulator |
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ISO |
ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic |
OMIM ClinVar |
PMID:8673101 PMID:12160730 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955601:398,772...453,271
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Arsl |
arylsulfatase L |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 |
OMIM ClinVar |
PMID:1557308 PMID:2722194 PMID:7720070 PMID:9409863 PMID:9497243 PMID:9536098 PMID:9863597 PMID:12567415 PMID:16199547 PMID:16937129 PMID:17576681 PMID:18348268 PMID:18414213 PMID:20301713 PMID:20523025 PMID:20598055 PMID:23462608 PMID:23470839 PMID:24033266 PMID:25741868 PMID:28257906 PMID:28492532 PMID:29565423 PMID:32860008 More...
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NCBI chrNW_004955499:1,751,663...1,773,112
Ensembl chrNW_004955499:1,747,649...1,773,110
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Ebp |
EBP cholestenol delta-isomerase |
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ISO |
OMIM:302950 | OMIM:302960 |
MouseDO |
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NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
OMIM:302950 | OMIM:302960 |
MouseDO |
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NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
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G |
Dynlt3 |
dynein light chain Tctex-type 3 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked |
ClinVar |
PMID:22929960 PMID:27701760 PMID:28492532 |
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NCBI chrNW_004955587:828,730...838,614
Ensembl chrNW_004955587:827,278...838,869
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G |
Hypm |
huntingtin interacting protein M |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked |
ClinVar |
PMID:22929960 PMID:27701760 PMID:28492532 |
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NCBI chrNW_004955601:38,906...39,259
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G |
LOC102004641 |
cytochrome b-245 light chain |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955541:2,570,843...2,573,822
Ensembl chrNW_004955541:2,569,727...2,574,118
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G |
LOC102012042 |
cytochrome b-245 heavy chain |
treatment |
ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant |
OMIM ClinVar RGD |
PMID:1347621 PMID:1438069 PMID:1520880 PMID:1710153 PMID:1719419 PMID:2523713 PMID:2556453 PMID:2838754 PMID:3600768 PMID:7713925 PMID:7907031 PMID:8070813 PMID:8101486 PMID:8182143 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:8961628 PMID:9454688 PMID:9536098 PMID:9585602 PMID:9667376 PMID:9774399 PMID:9794433 PMID:9856476 PMID:10068684 PMID:10089913 PMID:10627478 PMID:10828042 PMID:10914676 PMID:10980575 PMID:11112388 PMID:11162142 PMID:11413138 PMID:11435314 PMID:11462241 PMID:11566256 PMID:11700292 PMID:11997083 PMID:12094329 PMID:12139950 PMID:12589359 PMID:12804147 PMID:14697745 PMID:15082894 PMID:15338276 PMID:15454837 PMID:16199547 PMID:17576211 PMID:17576681 PMID:18322777 PMID:18509647 PMID:18546332 PMID:18708296 PMID:18762975 PMID:18773283 PMID:19410294 PMID:19483051 PMID:20228266 PMID:20540864 PMID:20724480 PMID:20729109 PMID:21190454 PMID:21604087 PMID:21659519 PMID:22125116 PMID:22540226 PMID:22562447 PMID:22876374 PMID:22924696 PMID:22924737 PMID:22929960 PMID:23193493 PMID:23859418 PMID:23910690 PMID:23956436 PMID:24276928 PMID:24943880 PMID:24999735 PMID:25252997 PMID:25525159 PMID:25666294 PMID:25741868 PMID:26185101 PMID:26453586 PMID:26936803 PMID:27701760 PMID:27853979 PMID:27966181 PMID:27980538 PMID:28168067 PMID:28251166 PMID:28492532 PMID:29018441 PMID:29560547 PMID:29702544 PMID:30237823 PMID:30470980 PMID:30506560 PMID:30633606 PMID:30716179 PMID:31456102 PMID:31813112 PMID:32040803 PMID:33629196 PMID:33717137 PMID:33963972 PMID:34462840 PMID:34680870 PMID:35140711 PMID:35729272 PMID:35874699 More...
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RGD:11040567 |
NCBI chrNW_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912
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G |
Ncf1 |
neutrophil cytosolic factor 1 |
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ISO |
ClinVar Annotator: match by term: CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955456:13,353,780...13,363,956
Ensembl chrNW_004955456:13,354,011...13,363,891
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G |
Otc |
ornithine transcarbamylase |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked |
ClinVar |
PMID:22929960 PMID:27701760 PMID:28492532 |
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NCBI chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
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G |
Rpgr |
retinitis pigmentosa GTPase regulator |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked |
ClinVar |
PMID:22929960 PMID:27701760 PMID:28492532 |
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NCBI chrNW_004955601:398,772...453,271
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G |
Srpx |
sushi repeat containing protein X-linked |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked |
ClinVar |
PMID:22929960 PMID:27701760 PMID:28492532 |
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NCBI chrNW_004955601:286,092...364,235
Ensembl chrNW_004955601:286,069...364,235
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G |
Sytl5 |
synaptotagmin like 5 |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked |
ClinVar |
PMID:22929960 PMID:27701760 PMID:28492532 |
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NCBI chrNW_004955601:76,647...210,198
Ensembl chrNW_004955601:76,647...210,208
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G |
Xk |
X-linked Kx blood group antigen, Kell and VPS13A binding protein |
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ISO |
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked |
ClinVar |
PMID:8634410 PMID:9585602 PMID:20729109 PMID:22929960 PMID:27701760 PMID:28492532 More...
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NCBI chrNW_004955587:668,871...725,829
Ensembl chrNW_004955587:668,070...728,959
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: CIIP X-linked | ClinVar Annotator: match by term: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked |
OMIM ClinVar |
PMID:10982489 PMID:12612583 PMID:16417552 PMID:16822260 PMID:18414213 PMID:22522697 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30089473 PMID:30986657 PMID:35000503 More...
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NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: X-linked cone-rod dystrophy 3 |
OMIM ClinVar |
PMID:9662399 PMID:11281458 PMID:15897456 PMID:16199547 PMID:17525176 PMID:22183355 PMID:22194652 PMID:23776498 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26992781 PMID:28492532 PMID:28838317 PMID:29127258 PMID:29854783 PMID:30718709 PMID:30825406 PMID:31651202 More...
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NCBI chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364
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G |
Atp11c |
ATPase phospholipid transporting 11C |
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ISO |
ClinVar Annotator: match by term: X-linked congenital hemolytic anemia |
OMIM ClinVar |
PMID:25741868 PMID:26944472 |
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NCBI chrNW_004955489:5,394,553...5,567,295
Ensembl chrNW_004955489:5,394,357...5,567,405
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G |
Aifm1 |
apoptosis inducing factor mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 |
OMIM ClinVar |
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 |
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NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428
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G |
Rab33a |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 |
ClinVar |
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 |
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NCBI chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177
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G |
Atp7a |
ATPase copper transporting alpha |
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ISO |
ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE |
OMIM ClinVar |
PMID:14985388 PMID:18414213 PMID:19153371 PMID:20170900 PMID:22210628 PMID:24033266 PMID:25428120 PMID:25741868 PMID:28119449 PMID:28492532 More...
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NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393
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G |
Gata1 |
GATA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES |
OMIM ClinVar |
PMID:871527 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16783379 PMID:17209061 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23704091 PMID:24453067 PMID:24766296 PMID:24952648 PMID:25741868 PMID:28492532 PMID:29146883 More...
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NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: DKC1-related condition | ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked |
OMIM ClinVar |
PMID:768476 PMID:1361371 PMID:3009302 PMID:7607282 PMID:9042917 PMID:9590285 PMID:9888995 PMID:10364516 PMID:10438713 PMID:10583221 PMID:10591218 PMID:10700698 PMID:11054058 PMID:11379875 PMID:11491307 PMID:11522545 PMID:11641517 PMID:12137939 PMID:12437656 PMID:14648217 PMID:15304085 PMID:15842668 PMID:16332973 PMID:16690864 PMID:18212040 PMID:18627054 PMID:19003239 PMID:19391112 PMID:19633571 PMID:19734544 PMID:19835419 PMID:19879169 PMID:20008900 PMID:20091372 PMID:20301779 PMID:21601430 PMID:21602826 PMID:21931702 PMID:22058290 PMID:22117216 PMID:22664374 PMID:23279657 PMID:23660516 PMID:23707062 PMID:23946118 PMID:24033266 PMID:24115260 PMID:24914498 PMID:25326635 PMID:25741868 PMID:25992652 PMID:26571381 PMID:27418648 PMID:27622320 PMID:28492532 PMID:28930861 PMID:29483670 PMID:29625052 PMID:29921932 PMID:30202881 PMID:31027506 PMID:31268371 PMID:31474318 PMID:32126783 More...
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NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked | ClinVar Annotator: match by term: Zinsser-Cole-Engman Syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23959892 PMID:25741868 PMID:26847928 PMID:28492532 More...
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NCBI chrNW_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398
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G |
Taf1 |
TATA-box binding protein associated factor 1 |
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ISO |
ClinVar Annotator: match by term: X-linked dystonia-parkinsonism |
OMIM ClinVar |
PMID:17273961 PMID:25741868 PMID:28492532 PMID:32396742 |
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NCBI chrNW_004955475:10,930,175...11,006,876
Ensembl chrNW_004955475:10,930,192...11,005,724
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G |
Emd |
emerin |
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ISO |
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures |
OMIM ClinVar |
PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 PMID:8655156 PMID:9195226 PMID:9266737 PMID:9384614 PMID:9472006 PMID:9536090 PMID:9536098 PMID:10323252 PMID:10382909 PMID:10382910 PMID:10393813 PMID:10399752 PMID:10480214 PMID:11385714 PMID:12872622 PMID:15967842 PMID:16080119 PMID:16199547 PMID:17067998 PMID:17355552 PMID:17576681 PMID:17620497 PMID:18646565 PMID:19377476 PMID:19997654 PMID:20474083 PMID:21496632 PMID:21520333 PMID:21697856 PMID:21993399 PMID:23169761 PMID:23349452 PMID:23395478 PMID:23785128 PMID:24033266 PMID:24365856 PMID:24375709 PMID:24503780 PMID:25030574 PMID:25210889 PMID:25741868 PMID:26187847 PMID:26247046 PMID:26415001 PMID:26467025 PMID:26675233 PMID:26820365 PMID:26899768 PMID:28492532 PMID:29961767 PMID:30079154 PMID:30763825 PMID:30847666 PMID:31024910 PMID:31185657 PMID:31474437 PMID:31475473 PMID:31645980 PMID:31718017 PMID:32860008 PMID:32880476 PMID:34026875 PMID:34524739 More...
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NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
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G |
Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures |
ClinVar |
PMID:262236 PMID:2338570 PMID:2733290 PMID:2753225 PMID:9536098 PMID:11102973 PMID:11503164 PMID:12376891 PMID:12467752 PMID:12628721 PMID:12629077 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:15140538 PMID:15372542 PMID:15475483 PMID:15843404 PMID:15998779 PMID:16174718 PMID:16584978 PMID:17107595 PMID:17334235 PMID:17377071 PMID:17576681 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18795223 PMID:18808171 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19524666 PMID:19638735 PMID:19680556 PMID:20848652 PMID:21400569 PMID:22326558 PMID:22761994 PMID:23183350 PMID:23328570 PMID:23702046 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24623722 PMID:24721642 PMID:24768879 PMID:24794538 PMID:25210889 PMID:25214167 PMID:25448463 PMID:25637381 PMID:25741868 PMID:26183555 PMID:26220970 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27332903 PMID:27506821 PMID:27532257 PMID:27813223 PMID:27884249 PMID:27896052 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:28790152 PMID:29237675 PMID:29255176 PMID:29693488 PMID:29952368 PMID:30326651 PMID:30402260 PMID:30420677 PMID:30564623 PMID:30847666 PMID:31383942 PMID:31428229 PMID:31476771 PMID:31744510 PMID:31980526 PMID:32041611 PMID:32376792 PMID:32698523 PMID:32727917 PMID:32793522 PMID:32818388 PMID:32880476 PMID:33407844 PMID:34240052 PMID:34935411 PMID:34999423 More...
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NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
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G |
Fhl1 |
four and a half LIM domains 1 |
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ISO |
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 6 | ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy |
OMIM ClinVar |
PMID:2663542 PMID:7722535 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179888 PMID:18179901 PMID:18274675 PMID:19171836 PMID:19181672 PMID:19377476 PMID:19687455 PMID:19716112 PMID:20186852 PMID:20571991 PMID:20633900 PMID:21520333 PMID:21629301 PMID:21683594 PMID:22094483 PMID:22523091 PMID:22923418 PMID:23169582 PMID:23500067 PMID:23965743 PMID:24114807 PMID:24634512 PMID:25191266 PMID:25246303 PMID:25274776 PMID:25741868 PMID:26265627 PMID:26467025 PMID:26627873 PMID:26857240 PMID:27409453 PMID:27443559 PMID:27532257 PMID:27841901 PMID:28444561 PMID:28492532 PMID:28611399 PMID:28694073 PMID:29434030 PMID:29661763 PMID:29926425 PMID:31204143 PMID:31273321 PMID:31568572 PMID:31803991 PMID:32001145 PMID:32102154 PMID:32587768 PMID:32815737 More...
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NCBI chrNW_004955489:8,888,845...8,944,778
Ensembl chrNW_004955489:8,888,779...8,901,970
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955403:18,057,344...18,328,389
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G |
Adgrg4 |
adhesion G protein-coupled receptor G4 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chrNW_004955489:8,690,268...8,801,358
Ensembl chrNW_004955489:8,701,814...8,801,358
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G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chrNW_004955489:8,360,027...8,459,309
Ensembl chrNW_004955489:8,360,072...8,459,377
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G |
Brs3 |
bombesin receptor subtype 3 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chrNW_004955489:8,627,569...8,631,810
Ensembl chrNW_004955489:8,627,569...8,631,810
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G |
Cd40 |
CD40 molecule |
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ISO |
ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome |
ClinVar |
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NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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G |
Cd40lg |
CD40 ligand |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome |
ClinVar |
PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 PMID:7679801 PMID:7717401 PMID:7906987 PMID:7907793 PMID:7916370 PMID:8094231 PMID:8550833 PMID:8889581 PMID:9150729 PMID:9536098 PMID:9605317 PMID:9746782 PMID:10366125 PMID:10484640 PMID:10559240 PMID:10651941 PMID:11038461 PMID:11158612 PMID:11850600 PMID:14514918 PMID:14641931 PMID:15319456 PMID:15358621 PMID:15623492 PMID:15924140 PMID:16019685 PMID:16169277 PMID:16199547 PMID:16509032 PMID:17146684 PMID:17351759 PMID:17553565 PMID:17576681 PMID:18342287 PMID:18805740 PMID:18955577 PMID:19575287 PMID:20301576 PMID:20591076 PMID:20625427 PMID:20652909 PMID:20981468 PMID:21465648 PMID:21543760 PMID:22009004 PMID:22193914 PMID:22750225 PMID:22928961 PMID:22963373 PMID:23622016 PMID:23653974 PMID:24123890 PMID:24402618 PMID:24768948 PMID:24929972 PMID:25215306 PMID:25541662 PMID:25741868 PMID:26545377 PMID:26997321 PMID:27189378 PMID:27324886 PMID:27484504 PMID:28492532 PMID:28916186 PMID:29077208 PMID:29525420 PMID:30053428 PMID:30405923 PMID:31117086 PMID:31179555 PMID:31331973 PMID:32888943 PMID:33060515 PMID:34335625 PMID:35570134 PMID:35572607 PMID:35874699 PMID:36478253 More...
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NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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G |
Fhl1 |
four and a half LIM domains 1 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chrNW_004955489:8,888,845...8,944,778
Ensembl chrNW_004955489:8,888,779...8,901,970
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G |
Gpr101 |
G protein-coupled receptor 101 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chrNW_004955489:8,125,763...8,127,280
Ensembl chrNW_004955489:8,125,763...8,127,280
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G |
Htatsf1 |
HIV-1 Tat specific factor 1 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chrNW_004955489:8,607,649...8,622,044
Ensembl chrNW_004955489:8,607,629...8,622,044
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G |
Map7d3 |
MAP7 domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chrNW_004955489:8,851,359...8,884,867
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G |
Rbmx |
RNA binding motif protein X-linked |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chrNW_004955489:8,280,842...8,286,252
Ensembl chrNW_004955489:8,280,794...8,286,252
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G |
Slc9a6 |
solute carrier family 9 member A6 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chrNW_004955489:9,020,719...9,078,375
Ensembl chrNW_004955489:9,019,425...9,078,705
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Ung |
uracil DNA glycosylase |
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ISO |
ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome |
ClinVar |
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NCBI chrNW_004955455:10,266,989...10,282,196
Ensembl chrNW_004955455:10,266,989...10,282,196
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Vgll1 |
vestigial like family member 1 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chrNW_004955489:8,569,891...8,586,770
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Zic3 |
Zic family member 3 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892
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Pnpla4 |
patatin like phospholipase domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Recessive X-linked ichthyosis |
ClinVar |
PMID:3007328 PMID:7208152 PMID:18413370 |
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NCBI chrNW_004955499:5,875,706...5,925,809
Ensembl chrNW_004955499:5,892,761...5,924,736
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Pudp |
pseudouridine 5'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Recessive X-linked ichthyosis |
ClinVar |
PMID:3007328 PMID:7208152 PMID:18413370 PMID:31690835 |
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NCBI chrNW_004955499:5,110,297...5,181,487
Ensembl chrNW_004955499:5,111,615...5,181,645
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Sts |
steroid sulfatase |
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ISO |
ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Placental steroid sulfatase deficiency | ClinVar Annotator: match by term: Recessive X-linked ichthyosis |
OMIM ClinVar |
PMID:1539590 PMID:2668275 PMID:3007328 PMID:3032454 PMID:7208152 PMID:9252398 PMID:18413370 PMID:25741868 PMID:28492532 PMID:31690835 PMID:35822528 More...
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NCBI chrNW_004955499:5,180,451...5,347,862
Ensembl chrNW_004955499:5,180,214...5,345,221
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Tlr7 |
toll like receptor 7 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 74, COVID-19-related, X-linked |
OMIM ClinVar |
PMID:32706371 |
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NCBI chrNW_004955544:424,897...443,562
Ensembl chrNW_004955544:424,850...443,564
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Atp7a |
ATPase copper transporting alpha |
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ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
ClinVar |
PMID:24550228 PMID:28492532 |
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NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393
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Atrx |
ATRX chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724
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LOC102020494 |
cytochrome c oxidase subunit 7B, mitochondrial |
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ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
ClinVar |
PMID:24550228 PMID:28492532 |
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NCBI chrNW_004955557:1,341,934...1,348,610
Ensembl chrNW_004955557:1,341,934...1,348,610
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Magt1 |
magnesium transporter 1 |
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ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 PMID:25135935 PMID:25504528 PMID:25741868 PMID:25956530 PMID:26422833 PMID:27770395 PMID:28353193 PMID:28492532 PMID:31036665 PMID:31993868 PMID:32499645 PMID:32581362 PMID:33831577 More...
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NCBI chrNW_004955557:1,294,408...1,336,164
Ensembl chrNW_004955557:1,290,615...1,336,198
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Pgk1 |
phosphoglycerate kinase 1 |
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ISO |
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955557:1,566,534...1,584,799
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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 chrNW_004955475:285,977...369,380
Ensembl chrNW_004955475:284,168...369,400
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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 chrNW_004955516:1,286,070...1,428,789
Ensembl chrNW_004955516:1,286,070...1,428,789
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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 chrNW_004955498:1,012,323...1,497,031
Ensembl chrNW_004955498:1,012,555...1,492,616
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LOC102021597 |
alpha-1-antiproteinase S-like |
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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 chrNW_004955438:17,920,200...17,929,105
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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 chrNW_004955418:1,322,644...1,583,352
Ensembl chrNW_004955418:1,392,985...1,583,376
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G |
Thoc2 |
THO complex 2 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome |
OMIM ClinVar |
PMID:1605217 PMID:8825049 PMID:25741868 PMID:26166480 PMID:28492532 |
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NCBI chrNW_004955473:11,029,860...11,143,493
Ensembl chrNW_004955473:11,029,714...11,144,880
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G |
Cdkl5 |
cyclin dependent kinase like 5 |
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ISO |
ClinVar Annotator: match by term: Retinoschisis juvenile X chromosome-linked | ClinVar Annotator: match by term: X-Linked Juvenile Retinoschisis |
ClinVar |
PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 PMID:12928282 PMID:15932525 PMID:15937075 PMID:16361673 PMID:17296904 PMID:17304551 PMID:17615541 PMID:17987333 PMID:18369700 PMID:18834580 PMID:19390641 PMID:20061330 PMID:21701876 PMID:22332228 PMID:23847049 PMID:24634885 PMID:25741868 PMID:28492532 PMID:28559085 PMID:29902095 PMID:30652005 PMID:32300273 More...
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NCBI chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485
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Mbtps2 |
membrane bound transcription factor peptidase, site 2 |
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ISO |
ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked |
OMIM ClinVar |
PMID:8745901 PMID:20672378 PMID:23316014 PMID:25741868 |
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NCBI chrNW_004955509:2,185,054...2,222,497
Ensembl chrNW_004955509:2,184,522...2,222,505
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Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955545:2,929,704...2,947,579
Ensembl chrNW_004955545:2,929,704...2,947,579
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G |
Sh2d1a |
SH2 domain containing 1A |
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ISO |
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked | ClinVar Annotator: match by term: SH2D1A-related condition |
OMIM ClinVar |
PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 PMID:10549287 PMID:10556288 PMID:10598819 PMID:10691868 PMID:10694488 PMID:10898506 PMID:10934222 PMID:11034354 PMID:11049992 PMID:11133747 PMID:11159547 PMID:11414741 PMID:11477068 PMID:11493483 PMID:11520777 PMID:11678908 PMID:12224001 PMID:12356686 PMID:14583885 PMID:15359110 PMID:15632210 PMID:15661030 PMID:15682426 PMID:15711562 PMID:15908972 PMID:15992610 PMID:16199547 PMID:16328363 PMID:16720617 PMID:17576681 PMID:18055393 PMID:19621458 PMID:19937601 PMID:20632414 PMID:20660790 PMID:21119115 PMID:21707584 PMID:21815800 PMID:22493517 PMID:22970278 PMID:23280491 PMID:23829589 PMID:24616127 PMID:24723092 PMID:24923536 PMID:24985396 PMID:25741868 PMID:27209435 PMID:28492532 PMID:28816794 PMID:29604111 PMID:29709555 PMID:30572125 PMID:31415280 PMID:32150605 PMID:32542393 PMID:32888943 PMID:33329693 More...
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NCBI chrNW_004955473:10,345,407...10,370,535
Ensembl chrNW_004955473:10,346,943...10,370,575
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G |
Sh2d2a |
SH2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955545:2,881,954...2,891,021
Ensembl chrNW_004955545:2,881,563...2,891,509
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G |
Xiap |
X-linked inhibitor of apoptosis |
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ISO |
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955473:10,823,795...10,878,256
Ensembl chrNW_004955473:10,827,435...10,840,604
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Gria3 |
glutamate ionotropic receptor AMPA type subunit 3 |
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ISO |
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked |
ClinVar |
PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 PMID:28492532 More...
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NCBI chrNW_004955473:11,283,642...11,574,836
Ensembl chrNW_004955473:11,281,379...11,574,907
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G |
Sh2d1a |
SH2 domain containing 1A |
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ISO |
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked |
ClinVar |
PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 PMID:28492532 More...
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NCBI chrNW_004955473:10,345,407...10,370,535
Ensembl chrNW_004955473:10,346,943...10,370,575
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G |
Stag2 |
STAG2 cohesin complex component |
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ISO |
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked |
ClinVar |
PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 PMID:28492532 More...
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NCBI chrNW_004955473:10,620,264...10,765,806
Ensembl chrNW_004955473:10,626,626...10,709,167
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G |
Thoc2 |
THO complex 2 |
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ISO |
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked |
ClinVar |
PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 PMID:28492532 More...
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NCBI chrNW_004955473:11,029,860...11,143,493
Ensembl chrNW_004955473:11,029,714...11,144,880
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Xiap |
X-linked inhibitor of apoptosis |
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ISO |
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked |
OMIM ClinVar |
PMID:1543760 PMID:9536098 PMID:16199547 PMID:17080092 PMID:17576681 PMID:17989220 PMID:18068526 PMID:20015872 PMID:20517649 PMID:21119115 PMID:21173700 PMID:21281876 PMID:21543760 PMID:21674762 PMID:22228567 PMID:23131490 PMID:23818254 PMID:23944711 PMID:23973892 PMID:24033266 PMID:24084330 PMID:24616127 PMID:25640679 PMID:25666262 PMID:25741868 PMID:25801017 PMID:25943627 PMID:26581487 PMID:27317434 PMID:27537055 PMID:27747465 PMID:27815752 PMID:28492532 PMID:28936583 PMID:29312354 PMID:29501442 PMID:29665027 PMID:30755392 PMID:31754776 PMID:32542393 More...
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NCBI chrNW_004955473:10,823,795...10,878,256
Ensembl chrNW_004955473:10,827,435...10,840,604
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Mbtps2 |
membrane bound transcription factor peptidase, site 2 |
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ISO |
ClinVar Annotator: match by term: Olmsted syndrome, X-linked |
OMIM ClinVar |
PMID:17367233 PMID:22931912 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955509:2,185,054...2,222,497
Ensembl chrNW_004955509:2,184,522...2,222,505
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G |
Cd99l2 |
CD99 molecule like 2 |
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ISO |
ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy |
ClinVar |
PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 PMID:28492532 More...
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NCBI chrNW_004955498:6,529,039...6,591,728
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Gpr50 |
G protein-coupled receptor 50 |
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ISO |
ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy |
ClinVar |
PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 PMID:28492532 More...
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NCBI chrNW_004955498:6,707,630...6,711,854
Ensembl chrNW_004955498:6,707,630...6,711,854
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Hmgb3 |
high mobility group box 3 |
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ISO |
ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy |
ClinVar |
PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 PMID:28492532 More...
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NCBI chrNW_004955498:6,633,540...6,640,393
Ensembl chrNW_004955498:6,633,336...6,640,459
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Mamld1 |
mastermind like domain containing 1 |
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ISO |
ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy |
ClinVar |
PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 PMID:28492532 More...
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NCBI chrNW_004955498:6,215,236...6,273,091
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Mtm1 |
myotubularin 1 |
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ISO |
ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy |
ClinVar |
PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 PMID:28492532 More...
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NCBI chrNW_004955498:6,329,402...6,444,708
Ensembl chrNW_004955498:6,329,275...6,445,169
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G |
Mtmr1 |
myotubularin related protein 1 |
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ISO |
ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy |
ClinVar |
PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 PMID:28492532 More...
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NCBI chrNW_004955498:6,462,706...6,528,297
Ensembl chrNW_004955498:6,462,626...6,528,380
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Vma21 |
vacuolar ATPase assembly factor VMA21 |
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ISO |
ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy |
OMIM ClinVar |
PMID:9305655 PMID:9536098 PMID:10063835 PMID:10449925 PMID:15725586 PMID:16217076 PMID:17576681 PMID:20434914 PMID:23315026 PMID:23850239 PMID:24488655 PMID:25683699 PMID:25741868 PMID:25809233 PMID:25817839 PMID:28492532 More...
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NCBI chrNW_004955498:6,874,980...6,887,561
Ensembl chrNW_004955498:6,874,776...6,887,658
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Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
ClinVar Annotator: match by term: AVPR2-related condition | ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked |
OMIM ClinVar |
PMID:1303257 PMID:1303271 PMID:1356229 PMID:4886456 PMID:5309332 PMID:7714087 PMID:7833930 PMID:7913579 PMID:7920187 PMID:7984150 PMID:7987330 PMID:7989330 PMID:8037205 PMID:8078903 PMID:8104196 PMID:8267567 PMID:8401502 PMID:8479490 PMID:8479491 PMID:8704106 PMID:8766931 PMID:8999963 PMID:9027323 PMID:9171234 PMID:9329382 PMID:9369448 PMID:9402087 PMID:9452109 PMID:9587067 PMID:9711877 PMID:9853256 PMID:10026829 PMID:10526945 PMID:10770218 PMID:10820167 PMID:10820168 PMID:11095010 PMID:11128419 PMID:11134505 PMID:11232028 PMID:11754100 PMID:11916004 PMID:11920339 PMID:12955588 PMID:14709855 PMID:15166253 PMID:15522100 PMID:15841479 PMID:15872203 PMID:16319185 PMID:16580609 PMID:16825342 PMID:16843086 PMID:16845277 PMID:17216256 PMID:17491025 PMID:18726898 PMID:19179480 PMID:19587238 PMID:19812297 PMID:20403097 PMID:22144672 PMID:22644838 PMID:23762448 PMID:24033266 PMID:25324589 PMID:25741868 PMID:26467025 PMID:27355191 PMID:27601473 PMID:27884173 PMID:28492532 PMID:29398133 PMID:29546600 PMID:29594432 PMID:30976394 PMID:32073219 PMID:32903920 PMID:32939031 PMID:33009446 PMID:33532864 PMID:33996673 PMID:34101133 More...
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NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
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Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 | ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure |
OMIM ClinVar |
PMID:7915957 PMID:8559248 PMID:9187673 PMID:9602200 PMID:9734595 PMID:11136179 PMID:12637640 PMID:15719255 PMID:15895257 PMID:16822791 PMID:18038239 PMID:19076289 PMID:19546586 PMID:19546591 PMID:22876375 PMID:24081861 PMID:25741868 PMID:25907713 PMID:26822237 PMID:27117801 PMID:27889724 PMID:28492532 PMID:28580211 PMID:31672324 PMID:32683654 More...
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NCBI chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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G |
Atp6ap2 |
ATPase H+ transporting accessory protein 2 |
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ISO |
ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome |
OMIM ClinVar |
PMID:20629132 PMID:23595882 |
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NCBI chrNW_004955565:2,006,154...2,029,921
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G |
Cfp |
complement factor properdin |
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ISO |
ClinVar Annotator: match by term: CFP-related condition | ClinVar Annotator: match by term: Properdin deficiency, X-linked | ClinVar Annotator: match by term: Properdin deficiency, type II | ClinVar Annotator: match by term: Properdin deficiency, type III |
OMIM ClinVar |
PMID:3380115 PMID:7151327 PMID:8530058 PMID:8871668 PMID:10909851 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492
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G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive |
OMIM ClinVar |
PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:11136179 PMID:15719255 PMID:15895257 PMID:16822791 PMID:18038239 PMID:19076289 PMID:19546586 PMID:19546591 PMID:22876375 PMID:24081861 PMID:25741868 PMID:25907713 PMID:26822237 PMID:27117801 PMID:27889724 PMID:28492532 PMID:28580211 PMID:31672324 PMID:32683654 More...
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NCBI chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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G |
Gjb1 |
gap junction protein beta 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910
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G |
Il2rg |
interleukin 2 receptor subunit gamma |
|
ISO |
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency |
OMIM ClinVar |
PMID:2169613 PMID:2984567 PMID:7557965 PMID:7632950 PMID:7668284 PMID:7683423 PMID:7860773 PMID:7883965 PMID:7973658 PMID:7973659 PMID:8027558 PMID:8088810 PMID:8298124 PMID:8299698 PMID:8401490 PMID:8462096 PMID:8522327 PMID:8541866 PMID:8557662 PMID:8605324 PMID:8712778 PMID:8781427 PMID:8900089 PMID:8961626 PMID:9049783 PMID:9058718 PMID:9150730 PMID:9150740 PMID:9399950 PMID:9536098 PMID:9633906 PMID:9885222 PMID:10444186 PMID:10784449 PMID:10792291 PMID:10794430 PMID:10794431 PMID:11129345 PMID:11213805 PMID:11260071 PMID:11874464 PMID:11961146 PMID:12070011 PMID:12126929 PMID:14722921 PMID:14966353 PMID:16199547 PMID:16227049 PMID:16293754 PMID:16760466 PMID:17576681 PMID:17598841 PMID:18615703 PMID:18641513 PMID:18728247 PMID:18941169 PMID:19398866 PMID:20301584 PMID:21184155 PMID:21732012 PMID:21865537 PMID:22039266 PMID:23250629 PMID:23374275 PMID:23683512 PMID:24534054 PMID:24612091 PMID:25042067 PMID:25326637 PMID:25741868 PMID:25843602 PMID:25869287 PMID:26525228 PMID:26547715 PMID:27484032 PMID:27566612 PMID:28109013 PMID:28359783 PMID:28492532 PMID:28747913 PMID:29658452 PMID:29948574 PMID:30622570 PMID:30778380 PMID:30850927 PMID:31024866 PMID:31799703 PMID:31965297 PMID:32265911 PMID:32499645 PMID:32888943 PMID:33412294 PMID:33628209 More...
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NCBI chrNW_004955475:10,676,592...10,680,565
Ensembl chrNW_004955475:10,676,870...10,680,517
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G |
Itgb1bp2 |
integrin subunit beta 1 binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955475:10,854,148...10,858,802
Ensembl chrNW_004955475:10,854,270...10,858,636
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G |
Med12 |
mediator complex subunit 12 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
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G |
Nlgn3 |
neuroligin 3 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955475:10,712,170...10,735,857
Ensembl chrNW_004955475:10,712,170...10,735,857
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G |
Nono |
non-POU domain containing octamer binding |
|
ISO |
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955475:10,833,514...10,853,460
Ensembl chrNW_004955475:10,833,189...10,853,519
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G |
Taf1 |
TATA-box binding protein associated factor 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955475:10,930,175...11,006,876
Ensembl chrNW_004955475:10,930,192...11,005,724
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G |
Zmym3 |
zinc finger MYM-type containing 3 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955475:10,801,637...10,818,123
Ensembl chrNW_004955475:10,801,255...10,818,375
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G |
Akap4 |
A-kinase anchoring protein 4 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:1,358,086...1,367,838
Ensembl chrNW_004955543:1,357,997...1,367,897
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G |
Araf |
A-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:521,479...532,980
Ensembl chrNW_004955516:521,479...533,212
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G |
Bmp15 |
bone morphogenetic protein 15 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:2,304,112...2,345,376
Ensembl chrNW_004955543:2,339,659...2,345,406
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364
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G |
Ccdc120 |
coiled-coil domain containing 120 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:577,078...594,076
Ensembl chrNW_004955543:587,321...592,544
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G |
Ccdc22 |
coiled-coil domain containing 22 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753
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G |
Ccnb3 |
cyclin B3 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:1,377,932...1,444,327
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G |
Cdk16 |
cyclin dependent kinase 16 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:860,474...873,338
Ensembl chrNW_004955516:860,480...873,338
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G |
Cfp |
complement factor properdin |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492
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G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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G |
Dgkk |
diacylglycerol kinase kappa |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:1,468,328...1,601,101
Ensembl chrNW_004955543:1,468,328...1,601,101
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G |
Ebp |
EBP cholestenol delta-isomerase |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
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G |
Elk1 |
ETS transcription factor ELK1 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
|
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NCBI chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871
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G |
Eras |
ES cell expressed Ras |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:381,756...383,093
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G |
Foxp3 |
forkhead box P3 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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G |
Ftsj1 |
FtsJ RNA 2'-O-methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955543:42,524...49,835
Ensembl chrNW_004955543:40,728...53,111
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G |
Gata1 |
GATA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
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G |
Glod5 |
glyoxalase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:320,087...321,311
Ensembl chrNW_004955543:319,985...323,393
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G |
Gpkow |
G-patch domain and KOW motifs |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:625,247...633,065
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|
G |
Gripap1 |
GRIP1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:500,340...527,243
Ensembl chrNW_004955543:500,340...527,267
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G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071
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G |
Jade3 |
jade family PHD finger 3 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:998,854...1,133,013
Ensembl chrNW_004955516:998,725...1,061,279
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G |
Kcnd1 |
potassium voltage-gated channel subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:487,312...500,232
Ensembl chrNW_004955543:487,312...498,626
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G |
LOC102018844 |
neutrophil elastase |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:24033266 |
|
NCBI chrNW_004955495:6,964,577...6,967,208
Ensembl chrNW_004955495:6,964,667...6,967,106
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G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207
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G |
Otud5 |
OTU deubiquitinase 5 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:452,172...484,564
Ensembl chrNW_004955543:452,121...484,560
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G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:383,984...387,885
Ensembl chrNW_004955543:384,123...387,744
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G |
Pim2 |
Pim-2 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:444,314...449,201
Ensembl chrNW_004955543:444,314...449,201
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G |
Plp2 |
proteolipid protein 2 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:658,617...662,441
Ensembl chrNW_004955543:658,486...662,441
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G |
Porcn |
porcupine O-acyltransferase |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955543:75,870...91,575
Ensembl chrNW_004955543:75,875...91,975
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G |
Ppp1r3f |
protein phosphatase 1 regulatory subunit 3F |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:750,094...767,894
Ensembl chrNW_004955543:750,323...766,797
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G |
Pqbp1 |
polyglutamine binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:430,324...434,205
Ensembl chrNW_004955543:430,853...434,205
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G |
Praf2 |
PRA1 domain family member 2 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:594,662...597,695
Ensembl chrNW_004955543:594,606...598,264
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G |
Prickle3 |
prickle planar cell polarity protein 3 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:662,438...673,386
Ensembl chrNW_004955543:662,438...673,662
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G |
Rbm10 |
RNA binding motif protein 10 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
|
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NCBI chrNW_004955516:904,852...934,313
Ensembl chrNW_004955516:904,062...934,313
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G |
Rbm3 |
RNA binding motif protein 3 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955543:166,891...173,987
Ensembl chrNW_004955543:166,891...170,488
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G |
Rgn |
regucalcin |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
|
|
NCBI chrNW_004955516:958,416...978,829
Ensembl chrNW_004955516:955,680...978,910
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G |
Rp2 |
RP2 activator of ARL3 GTPase |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:1,160,148...1,193,540
|
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G |
Shroom4 |
shroom family member 4 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:1,810,125...2,046,144
|
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G |
Slc35a2 |
solute carrier family 35 member A2 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:434,265...443,460
Ensembl chrNW_004955543:434,405...443,508
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G |
Slc38a5 |
solute carrier family 38 member 5 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955543:15,968...24,644
Ensembl chrNW_004955543:16,089...24,668
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G |
Slc9a7 |
solute carrier family 9 member A7 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
|
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NCBI chrNW_004955516:1,286,070...1,428,789
Ensembl chrNW_004955516:1,286,070...1,428,789
|
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G |
Spaca5 |
sperm acrosome associated 5 |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:103,674...106,082
|
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G |
Suv39h1 |
SUV39H1 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:258,479...271,128
Ensembl chrNW_004955543:258,479...272,473
|
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G |
Syn1 |
synapsin I |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:460,258...521,484
Ensembl chrNW_004955516:460,198...521,484
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G |
Syp |
synaptophysin |
|
ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:675,294...689,579
Ensembl chrNW_004955543:675,294...689,686
|
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G |
Tbc1d25 |
TBC1 domain family member 25 |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955543:127,314...154,235
Ensembl chrNW_004955543:127,162...154,235
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Tfe3 |
transcription factor binding to IGHM enhancer 3 |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:547,037...561,073
Ensembl chrNW_004955543:547,037...561,073
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Timm17b |
translocase of inner mitochondrial membrane 17B |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:425,076...430,767
Ensembl chrNW_004955543:425,076...430,767
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
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G |
Uba1 |
ubiquitin like modifier activating enzyme 1 |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:876,542...898,763
Ensembl chrNW_004955516:876,354...891,206
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Usp11 |
ubiquitin specific peptidase 11 |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:840,708...858,201
Ensembl chrNW_004955516:841,114...857,322
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Usp27x |
ubiquitin specific peptidase 27 X-linked |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:1,023,931...1,027,048
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G |
Uxt |
ubiquitously expressed prefoldin like chaperone |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:421,402...429,804
Ensembl chrNW_004955516:420,616...430,134
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Was |
WASP actin nucleation promoting factor |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
OMIM ClinVar |
PMID:3284030 PMID:7579329 PMID:7579347 PMID:7753869 PMID:8069912 PMID:8528198 PMID:8528199 PMID:8530058 PMID:8595430 PMID:8666397 PMID:8682510 PMID:8743175 PMID:8757562 PMID:8757563 PMID:8931701 PMID:9126958 PMID:9326235 PMID:9476131 PMID:9536098 PMID:9683546 PMID:10202051 PMID:10447259 PMID:10449748 PMID:10575547 PMID:10653325 PMID:10691337 PMID:10698340 PMID:10737997 PMID:10909851 PMID:11167787 PMID:11242115 PMID:11298372 PMID:11442475 PMID:11793485 PMID:11877312 PMID:12199801 PMID:12727931 PMID:12969986 PMID:14504083 PMID:14612970 PMID:15284122 PMID:15469902 PMID:15497008 PMID:16091449 PMID:16199547 PMID:16511828 PMID:16638962 PMID:16804117 PMID:17213309 PMID:17250667 PMID:17400488 PMID:17576681 PMID:17703096 PMID:18162713 PMID:19006568 PMID:19308710 PMID:19328743 PMID:19817875 PMID:19863535 PMID:20173115 PMID:20232122 PMID:20513746 PMID:20546529 PMID:20959042 PMID:21185603 PMID:21710275 PMID:21771083 PMID:22038941 PMID:22229731 PMID:22426750 PMID:22523910 PMID:22679904 PMID:23023736 PMID:23033889 PMID:23160469 PMID:23527602 PMID:23689198 PMID:23807894 PMID:24210885 PMID:24402308 PMID:24728327 PMID:25091438 PMID:25332606 PMID:25476427 PMID:25741868 PMID:25792466 PMID:25862925 PMID:25931402 PMID:26261240 PMID:26277674 PMID:26368308 PMID:26502776 PMID:27264129 PMID:27566838 PMID:28492532 PMID:28600779 PMID:28623282 PMID:28641574 PMID:28748566 PMID:28901403 PMID:28931895 PMID:28956125 PMID:29078804 PMID:29896746 PMID:29991546 PMID:30549999 PMID:30697212 PMID:30894704 PMID:30981783 PMID:31064749 PMID:31352750 PMID:31354712 PMID:31965297 PMID:32097281 PMID:33225392 PMID:34098853 PMID:34355501 PMID:35729272 PMID:35874699 More...
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NCBI chrNW_004955543:243,618...253,489
Ensembl chrNW_004955543:247,631...253,274
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G |
Wdr13 |
WD repeat domain 13 |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955543:182,279...190,435
Ensembl chrNW_004955543:182,279...190,435
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Wdr45 |
WD repeat domain 45 |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963
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G |
Znf157 |
zinc finger protein 157 |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:692,871...727,103
Ensembl chrNW_004955516:692,871...727,103
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Znf182 |
zinc finger protein 182 |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:93,596...148,739
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G |
Znf41 |
zinc finger protein 41 |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:611,591...646,109
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Znf81 |
zinc finger protein 81 |
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ISO |
ClinVar Annotator: match by term: X-linked severe congenital neutropenia |
ClinVar |
PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 More...
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NCBI chrNW_004955516:215,370...312,684
Ensembl chrNW_004955516:219,262...248,215
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G |
Abcb7 |
ATP binding cassette subfamily B member 7 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia DNA:missense mutation: :p.I400M (human) |
OMIM ClinVar RGD |
PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 PMID:17576681 PMID:22398176 PMID:25741868 PMID:28492532 More...
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RGD:1598600 |
NCBI chrNW_004955562:1,079,884...1,220,806
Ensembl chrNW_004955562:1,077,198...1,221,061
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Alas2 |
5'-aminolevulinate synthase 2 |
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ISO |
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia |
ClinVar |
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NCBI chrNW_004955475:2,362,368...2,382,680
Ensembl chrNW_004955475:2,362,118...2,377,864
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G |
Tex11 |
testis expressed 11 |
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ISO |
ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 |
OMIM ClinVar |
PMID:25970010 PMID:28492532 |
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NCBI chrNW_004955475:10,057,708...10,432,087
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G |
Uba1 |
ubiquitin like modifier activating enzyme 1 |
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ISO |
ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 PMID:25075304 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29034082 PMID:32181232 PMID:33108101 PMID:33369814 PMID:33690815 PMID:33789873 PMID:34048852 PMID:34647982 PMID:34649277 PMID:35793467 PMID:36038944 PMID:36662445 More...
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NCBI chrNW_004955516:876,542...898,763
Ensembl chrNW_004955516:876,354...891,206
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G |
Zc4h2 |
zinc finger C4H2-type containing |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23623388 |
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NCBI chrNW_004955475:4,569,263...4,604,571
Ensembl chrNW_004955475:4,568,005...4,604,577
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G |
Abcb7 |
ATP binding cassette subfamily B member 7 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked |
ClinVar |
PMID:26242992 |
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NCBI chrNW_004955562:1,079,884...1,220,806
Ensembl chrNW_004955562:1,077,198...1,221,061
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G |
Amer1 |
APC membrane recruitment protein 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked |
ClinVar |
PMID:26242992 PMID:28492532 |
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NCBI chrNW_004955475:4,451,094...4,470,750
Ensembl chrNW_004955475:4,463,023...4,466,406
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia |
OMIM ClinVar |
PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:26633542 PMID:27435318 PMID:27632770 PMID:27653636 PMID:28492532 More...
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NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471
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G |
Atp7a |
ATPase copper transporting alpha |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked |
ClinVar |
PMID:26242992 |
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NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393
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G |
Nhsl2 |
NHS like 2 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked |
ClinVar |
PMID:26242992 |
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NCBI chrNW_004955475:11,208,632...11,523,215
Ensembl chrNW_004955475:11,243,018...11,517,526
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G |
Phka1 |
phosphorylase kinase regulatory subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked |
ClinVar |
PMID:26242992 PMID:28492532 |
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NCBI chrNW_004955475:12,020,278...12,172,427
Ensembl chrNW_004955475:12,020,629...12,172,443
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G |
Rtl9 |
retrotransposon Gag like 9 |
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ISO |
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked |
ClinVar |
PMID:26242992 |
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NCBI chrNW_004955490:5,409,277...5,420,508
Ensembl chrNW_004955490:5,409,202...5,415,202
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia |
ClinVar |
PMID:7825602 PMID:7849723 PMID:8040304 PMID:8651290 PMID:9088111 PMID:9195223 PMID:9553942 PMID:10190819 PMID:12175782 PMID:14767898 PMID:15192815 PMID:15800013 PMID:15811009 PMID:16087056 PMID:17285533 PMID:20195870 PMID:20661612 PMID:21068741 PMID:21700483 PMID:21966424 PMID:23419472 PMID:23566833 PMID:25741868 PMID:26260157 PMID:26454440 PMID:27928321 PMID:28492532 More...
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NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
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Bgn |
biglycan |
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ISO |
ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia |
OMIM ClinVar |
PMID:8064814 PMID:25741868 PMID:27236923 PMID:28492532 |
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NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663
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G |
Aifm1 |
apoptosis inducing factor mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy |
OMIM ClinVar |
PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 PMID:28492532 PMID:28842795 More...
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NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428
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Rab33a |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy |
ClinVar |
PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 PMID:28492532 PMID:28842795 More...
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NCBI chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177
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G |
Ofd1 |
OFD1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked |
ClinVar |
PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 PMID:22563562 PMID:25741868 PMID:26252088 PMID:28492532 More...
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NCBI chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070
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G |
Trappc2 |
trafficking protein particle complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked |
OMIM ClinVar |
PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 PMID:22563562 PMID:25741868 PMID:26252088 PMID:28492532 More...
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NCBI chrNW_004955519:4,470,906...4,485,969
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G |
Gata1 |
GATA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis |
OMIM ClinVar |
PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 PMID:17209061 PMID:17881640 PMID:19172521 PMID:20301538 PMID:22706301 PMID:23704091 PMID:24453067 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
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G |
Baz1a |
bromodomain adjacent to zinc finger domain 1A |
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ISO |
ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations |
ClinVar |
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NCBI chrNW_004955409:26,136,961...26,231,960
Ensembl chrNW_004955409:26,149,665...26,231,180
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G |
Fancb |
FA complementation group B |
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ISO |
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 |
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NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814
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G |
Fancl |
FA complementation group L |
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ISO |
ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus |
ClinVar |
PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 PMID:29625052 More...
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NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly |
ClinVar |
PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 PMID:21828076 PMID:22628360 PMID:24778394 PMID:25157968 PMID:25669429 PMID:25741868 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29706350 PMID:29874181 More...
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NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
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G |
Sall1 |
spalt like transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: VACTERL-H |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955433:9,146,074...9,161,171
Ensembl chrNW_004955433:9,144,748...9,161,171
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G |
Zic3 |
Zic family member 3 |
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ISO |
ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus |
OMIM ClinVar |
PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 PMID:32753700 More...
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NCBI chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892
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