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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_004955406:9,687,237...9,754,426
Ensembl chrNW_004955406:9,688,749...9,744,998
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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_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303
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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_004955421:16,595,445...17,075,923
Ensembl chrNW_004955421:16,595,471...17,075,923
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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_004955486:9,165,850...9,192,306
Ensembl chrNW_004955486:9,165,850...9,193,066
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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_004955455:14,679,416...14,960,226
Ensembl chrNW_004955455:14,679,416...14,957,532
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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_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
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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_004955435:6,464,283...6,655,695
Ensembl chrNW_004955435:6,462,903...6,655,801
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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_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
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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_004955532:1,093,444...1,100,591
Ensembl chrNW_004955532:1,092,125...1,100,603
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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_004955495:2,021,671...2,105,155
Ensembl chrNW_004955495:2,021,566...2,105,397
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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_004955489:4,817,753...4,819,858
Ensembl chrNW_004955489:4,817,753...4,819,131
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G |
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_004955413:18,831,931...19,676,371
Ensembl chrNW_004955413:18,831,931...19,204,217
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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_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759
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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_004955462:10,925,383...10,973,814
Ensembl chrNW_004955462:10,925,383...10,973,814
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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_004955487:3,778,901...3,789,852
Ensembl chrNW_004955487:3,778,858...3,790,080
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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_004955420:20,540,266...20,605,830
Ensembl chrNW_004955420:20,540,016...20,605,854
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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_004955415:4,540,302...4,556,360
Ensembl chrNW_004955415:4,540,302...4,556,360
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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_004955573:759,222...763,222
Ensembl chrNW_004955573:759,222...763,222
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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_004955457:14,178,674...14,200,164
Ensembl chrNW_004955457:14,178,947...14,192,193
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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_004955573:752,646...759,292
Ensembl chrNW_004955573:752,601...759,292
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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_004955501:83,965...84,476
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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 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_004955501:83,965...84,476
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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_004955508:6,201,989...6,231,840
Ensembl chrNW_004955508:6,201,989...6,231,845
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G |
Foxl2 |
forkhead box L2 |
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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_004955501:83,965...84,476
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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_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633
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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_004955445:16,219,675...16,222,913
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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_004955409:16,885,564...16,967,865
Ensembl chrNW_004955409:16,886,423...16,967,641
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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_004955495:3,134,181...3,138,725
Ensembl chrNW_004955495:3,133,429...3,139,552
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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_004955412:25,937,624...25,953,458
Ensembl chrNW_004955412:25,937,624...25,953,189
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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_004955470:4,328,895...4,336,441
Ensembl chrNW_004955470:4,326,096...4,336,441
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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_004955449:574,407...635,566
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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_004955532:650,913...681,186
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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_004955456:15,292,562...15,636,835
Ensembl chrNW_004955456:15,276,959...15,638,004
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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_004955418:5,612,919...5,981,549
Ensembl chrNW_004955418:5,614,950...5,981,636
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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_004955501:83,965...84,476
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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_004955440:14,754,931...14,854,090
Ensembl chrNW_004955440:14,754,639...14,854,406
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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_004955445:16,219,675...16,222,913
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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_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
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G |
Sall4 |
spalt like transcription factor 4 |
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ISO |
DNA:frameshift mutation:cds:p.M640IfsX25 (human) CTD Direct Evidence: marker/mechanism DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) DNA:nonsense mutation:cds:p.R905X (human) DNA:duplication:cds:c.410dupG (human) DNA:snps, deletions, insertion:multiple (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_004955445:6,824,797...6,841,141
Ensembl chrNW_004955445:6,824,770...6,842,187
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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_004955454:6,129,821...6,148,645
Ensembl chrNW_004955454:6,129,612...6,148,645
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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_004955445:16,219,675...16,222,913
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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_004955449:574,407...635,566
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G |
Mafb |
MAF bZIP transcription factor B |
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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_004955445:16,219,675...16,222,913
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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_004955465:3,877,896...3,900,259
Ensembl chrNW_004955465:3,882,549...3,898,929
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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_004955456:10,294,525...11,417,761
Ensembl chrNW_004955456:10,296,377...10,322,455
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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_004955484:7,937,847...7,985,418
Ensembl chrNW_004955484:7,938,495...7,986,231
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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_004955404:2,092,184...2,178,079
Ensembl chrNW_004955404:2,092,184...2,178,079
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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_004955533:1,304,675...1,489,041
Ensembl chrNW_004955533:1,304,675...1,489,041
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G |
Loxhd1 |
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_004955402:31,985,616...32,144,040
Ensembl chrNW_004955402:31,985,583...32,144,040
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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_004955420:27,884,262...27,899,293
Ensembl chrNW_004955420:27,884,303...27,899,293
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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_004955411:32,745,029...32,898,570
Ensembl chrNW_004955411:32,745,235...32,881,138
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