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G |
Ahctf1 |
AT-hook containing transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
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NCBI chrNW_004936526:4,143,002...4,209,689
Ensembl chrNW_004936526:4,142,566...4,209,791
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Bmp4 |
bone morphogenetic protein 4 |
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ISO |
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RGD |
PMID:14710472 |
RGD:8699500 |
NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468
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G |
Foxp1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936603:2,631,781...3,146,104
Ensembl chrNW_004936603:2,632,274...2,830,324
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G |
Gnb1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28087732 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32918542 PMID:32963807 PMID:35253369 PMID:36405774 More...
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NCBI chrNW_004936737:1,518,855...1,554,926
Ensembl chrNW_004936737:1,524,325...1,555,102
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G |
Med13l |
mediator complex subunit 13L |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936558:5,998,760...6,288,666
Ensembl chrNW_004936558:5,998,754...6,289,867
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:21520333 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29089047 PMID:33471991 More...
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NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261
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G |
Olfm3 |
olfactomedin 3 |
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ISO |
ClinVar Annotator: match by term: Strabismus, susceptibility to |
ClinVar |
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NCBI chrNW_004936748:1,773,994...1,979,727
Ensembl chrNW_004936748:1,773,994...1,821,495
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G |
Ptpn11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:15985475 PMID:17020470 PMID:17546245 PMID:18470943 PMID:19077116 PMID:20186801 PMID:21590266 PMID:22465605 PMID:22781091 PMID:23624134 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29493581 More...
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NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448
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G |
Qars1 |
glutaminyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 |
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NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265
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G |
Smarca4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936659:1,152,846...1,246,718
Ensembl chrNW_004936659:1,169,792...1,249,213
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G |
Sox3 |
SRY-box transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936513:7,218,583...7,221,085
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Sox5 |
SRY-box transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936548:3,213,305...3,599,876
Ensembl chrNW_004936548:3,213,466...3,599,425
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G |
Stxbp1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647 More...
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NCBI chrNW_004936487:15,300,758...15,367,475
Ensembl chrNW_004936487:15,300,952...15,365,713
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G |
Tmco1 |
transmembrane and coiled-coil domains 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
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NCBI chrNW_004936481:19,586,870...19,609,043
Ensembl chrNW_004936481:19,586,870...19,611,933
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G |
Colec11 |
collectin subfamily member 11 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition |
OMIM ClinVar |
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 PMID:28492532 More...
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NCBI chrNW_004936532:1,757,288...1,776,053
Ensembl chrNW_004936532:1,749,894...1,776,001
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G |
Masp1 |
MBL associated serine protease 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chrNW_004936578:2,804,460...2,857,731
Ensembl chrNW_004936578:2,804,460...2,869,582
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G |
Slc26a2 |
solute carrier family 26 member 2 |
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ISO |
ClinVar Annotator: match by term: OSA syndrome |
ClinVar |
PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 More...
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NCBI chrNW_004936504:4,990,996...5,005,658
Ensembl chrNW_004936504:4,991,080...5,005,877
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G |
Ap4m1 |
adaptor related protein complex 4 subunit mu 1 |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936543:246,335...250,278
Ensembl chrNW_004936543:246,335...254,975
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G |
Larp7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936563:3,455,205...3,474,955
Ensembl chrNW_004936563:3,455,045...3,475,417
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G |
Taf6 |
TATA-box binding protein associated factor 6 |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition |
ClinVar OMIM |
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936543:250,174...256,405
Ensembl chrNW_004936543:247,096...256,629
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G |
Foxl2 |
forkhead box L2 |
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ISO |
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 |
ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:21325395 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
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NCBI chrNW_004936540:1,136,403...1,137,984
Ensembl chrNW_004936540:1,136,468...1,137,574
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G |
Foxl2 |
forkhead box L2 |
|
ISO |
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure |
ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:21325395 PMID:25741868 PMID:28492532 PMID:31077882 PMID:33538981 More...
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NCBI chrNW_004936540:1,136,403...1,137,984
Ensembl chrNW_004936540:1,136,468...1,137,574
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G |
Copb2 |
COPI coat complex subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chrNW_004936540:1,467,169...1,493,218
Ensembl chrNW_004936540:1,467,169...1,493,258
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G |
Foxl2 |
forkhead box L2 |
|
ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome | ClinVar Annotator: match by term: FOXL2-related condition |
OMIM ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:18635577 PMID:18642388 PMID:19010791 PMID:19429596 PMID:19515849 PMID:21325395 PMID:22159675 PMID:22312189 PMID:23441113 PMID:25741868 PMID:26323275 PMID:27914838 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:31366388 PMID:32454486 PMID:33538981 PMID:33796131 PMID:36338666 PMID:39033378 More...
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NCBI chrNW_004936540:1,136,403...1,137,984
Ensembl chrNW_004936540:1,136,468...1,137,574
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G |
Mrps22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chrNW_004936540:1,451,882...1,466,569
Ensembl chrNW_004936540:1,451,826...1,468,865
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G |
Mafb |
MAF bZIP transcription factor B |
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ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chrNW_004936561:1,007,273...1,010,548
Ensembl chrNW_004936561:1,007,647...1,008,618
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G |
Togaram1 |
TOG array regulator of axonemal microtubules 1 |
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ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chrNW_004936583:4,213,853...4,298,916
Ensembl chrNW_004936583:4,213,847...4,298,945
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G |
Tubb4a |
tubulin beta 4A class IVa |
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ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chrNW_004936588:3,821,171...3,826,827
Ensembl chrNW_004936588:3,821,110...3,826,940
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G |
Robo3 |
roundabout guidance receptor 3 |
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ISO |
ClinVar Annotator: match by term: Conjugate gaze palsy |
ClinVar |
PMID:15105459 PMID:16525029 PMID:21850172 PMID:25741868 PMID:32373565 PMID:34374989 More...
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NCBI chrNW_004936743:1,305,108...1,321,819
Ensembl chrNW_004936743:1,305,341...1,320,702
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G |
Actr1b |
actin related protein 1B |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936744:928,075...935,969
Ensembl chrNW_004936744:928,073...936,043
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G |
Chn1 |
chimerin 1 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936509:4,507,042...4,677,681
Ensembl chrNW_004936509:4,506,311...4,678,313
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G |
Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:7695699 PMID:8218237 PMID:11167698 PMID:19344236 PMID:21448560 PMID:22058051 PMID:25741868 PMID:27746867 PMID:28492532 More...
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NCBI chrNW_004936529:348,938...381,701
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G |
Cux1 |
cut like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936543:1,482,606...1,781,294
Ensembl chrNW_004936543:1,485,970...1,796,070
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Fer |
FER tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936531:3,512,976...3,898,885
Ensembl chrNW_004936531:3,551,350...3,897,449
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G |
Foxl2 |
forkhead box L2 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chrNW_004936540:1,136,403...1,137,984
Ensembl chrNW_004936540:1,136,468...1,137,574
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G |
Kif5c |
kinesin family member 5C |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936469:28,282,921...28,431,638
Ensembl chrNW_004936469:28,280,095...28,431,695
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G |
LOC101971027 |
neuroendocrine secretory protein 55 |
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ISO |
ClinVar Annotator: match by term: Duane anomaly | ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936530:1,353,432...1,407,437
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G |
Mafb |
MAF bZIP transcription factor B |
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ISO |
CTD Direct Evidence: marker/mechanism OMIM:126800 | OMIM:604356 |
CTD MouseDO |
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NCBI chrNW_004936561:1,007,273...1,010,548
Ensembl chrNW_004936561:1,007,647...1,008,618
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G |
Ptpn11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448
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G |
Sall4 |
spalt like transcription factor 4 |
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ISO |
DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) DNA:frameshift mutation:cds:p.M640IfsX25 (human) DNA:snps, deletions, insertion:multiple (human) CTD Direct Evidence: marker/mechanism DNA:nonsense mutation:cds:p.R905X (human) DNA:duplication:cds:c.410dupG (human) |
RGD CTD |
PMID:12393809 PMID:12395297 PMID:16402211 PMID:16411190 PMID:17216607 PMID:23687435 PMID:26791099 PMID:30067223 More...
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RGD:11532205 RGD:11556210 RGD:11556211 RGD:11556215 RGD:11556231 RGD:11556232 |
NCBI chrNW_004936514:3,285,778...3,302,179
Ensembl chrNW_004936514:3,285,531...3,303,644
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G |
Tuba8 |
tubulin alpha 8 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chrNW_004936807:1,061,542...1,079,438
Ensembl chrNW_004936807:1,061,529...1,084,228
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G |
Mafb |
MAF bZIP transcription factor B |
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ISO |
ClinVar Annotator: match by term: Duane syndrome type 1 |
ClinVar |
PMID:27181683 |
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NCBI chrNW_004936561:1,007,273...1,010,548
Ensembl chrNW_004936561:1,007,647...1,008,618
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G |
Chn1 |
chimerin 1 |
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ISO |
ClinVar Annotator: match by term: CHN1-related condition | ClinVar Annotator: match by term: Duane retraction syndrome 2 |
OMIM ClinVar |
PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 PMID:21555619 PMID:25741868 PMID:28492532 PMID:39033378 More...
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NCBI chrNW_004936509:4,507,042...4,677,681
Ensembl chrNW_004936509:4,506,311...4,678,313
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G |
Mafb |
MAF bZIP transcription factor B |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome 3 | ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness |
OMIM ClinVar |
PMID:20436469 PMID:24989131 PMID:25741868 PMID:27181683 PMID:28492532 |
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NCBI chrNW_004936561:1,007,273...1,010,548
Ensembl chrNW_004936561:1,007,647...1,008,618
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G |
Tfap2a |
transcription factor AP-2 alpha |
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ISO |
ClinVar Annotator: match by term: Esotropia |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936534:2,481,804...2,518,573
Ensembl chrNW_004936534:2,481,806...2,499,317
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G |
Auts2 |
activator of transcription and developmental regulator AUTS2 |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936543:5,146,961...6,187,634
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G |
Cdh3 |
cadherin 3 |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936475:18,908,031...18,954,402
Ensembl chrNW_004936475:18,906,493...18,955,072
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G |
Col4a2 |
collagen type IV alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349
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G |
Herc2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
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NCBI chrNW_004936471:38,419,147...38,606,312
Ensembl chrNW_004936471:38,419,129...38,606,323
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G |
LOC101976443 |
lipoxygenase homology PLAT domains 1 |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386 |
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NCBI chrNW_004936517:271,909...409,818
Ensembl chrNW_004936517:271,909...409,691
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G |
Pomgnt2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936695:2,117,506...2,141,859
Ensembl chrNW_004936695:2,139,661...2,141,403
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G |
Sobp |
sine oculis binding protein homolog |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus | ClinVar Annotator: match by term: SOBP-related condition |
OMIM ClinVar |
PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936564:3,855,526...4,000,809
Ensembl chrNW_004936564:3,855,672...3,982,401
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