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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 chr10:15,042,168...15,121,885
Ensembl chr10:15,042,275...15,132,326
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G |
BMP4 |
bone morphogenetic protein 4 |
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ISO |
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RGD |
PMID:14710472 |
RGD:8699500 |
NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
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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 chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892
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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 chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505
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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 chr14:36,061,834...36,384,567
Ensembl chr14:36,063,644...36,383,800
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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:28492532 PMID:33471991 |
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NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969
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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 chr 4:116,428,889...116,626,134
Ensembl chr 4:116,583,630...116,623,933
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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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003
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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 chr13:31,715,686...31,723,200
Ensembl chr13:31,715,689...31,723,197
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G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295
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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 chr X:115,017,704...115,020,601
Ensembl chr X:115,019,232...115,020,578
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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 chr 5:49,159,950...50,166,463
Ensembl chr 5:49,504,551...50,161,558
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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 chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778
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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 chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,819...85,017,820
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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 chr 3:131,226,941...131,254,555
Ensembl chr 3:131,226,956...131,254,553
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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 chr13:124,938,469...125,028,440
Ensembl chr13:124,955,030...125,054,463
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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 chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,686...151,022,148
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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 chr 3:8,013,701...8,017,701
Ensembl chr 3:8,013,747...8,017,700
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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 chr 8:110,069,565...110,089,789
Ensembl chr 8:110,069,829...110,089,708
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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 |
OMIM ClinVar |
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 |
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NCBI chr 3:8,017,675...8,026,982
Ensembl chr 3:8,017,675...8,026,888
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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 chr13:79,708,693...79,709,825
Ensembl chr13:79,708,693...79,709,825
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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 chr13:79,708,693...79,709,825
Ensembl chr13:79,708,693...79,709,825
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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 chr13:80,220,460...80,264,808
Ensembl chr13:80,218,989...80,264,762
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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 chr13:79,708,693...79,709,825
Ensembl chr13:79,708,693...79,709,825
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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 chr13:80,006,656...80,232,107
Ensembl chr13:79,981,796...80,232,773
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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 chr17:43,408,390...43,411,782
Ensembl chr17:43,404,925...43,411,739
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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 chr 1:175,198,172...175,274,309
Ensembl chr 1:175,198,385...175,275,159
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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 chr 2:72,599,244...72,605,362
Ensembl chr 2:72,599,140...72,605,361
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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 chr 9:52,065,043...52,081,764
Ensembl chr 9:52,065,499...52,081,625
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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 chr 3:56,610,356...56,619,171
Ensembl chr 3:56,610,304...56,620,164
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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 chr15:80,731,243...80,927,746
Ensembl chr15:80,730,716...80,927,746
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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 chr13:31,262,750...31,295,112
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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 chr 3:9,317,145...9,669,999
Ensembl chr 3:9,317,140...9,669,998
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G |
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 chr 2:113,774,120...114,207,307
Ensembl chr 2:113,774,412...114,206,930
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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 chr13:79,708,693...79,709,825
Ensembl chr13:79,708,693...79,709,825
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GNAS |
GNAS complex locus |
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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 chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
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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 chr15:3,190,341...3,361,470
Ensembl chr15:3,190,343...3,361,410
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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 chr17:43,408,390...43,411,782
Ensembl chr17:43,404,925...43,411,739
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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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003
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G |
SALL4 |
spalt like transcription factor 4 |
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ISO |
DNA:duplication:cds:c.410dupG (human) DNA:frameshift mutation:cds:p.M640IfsX25 (human) DNA:snps, deletions, insertion:multiple (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) |
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 chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190
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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 chr 5:70,154,251...70,174,001
Ensembl chr 5:70,153,922...70,179,970
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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 chr17:43,408,390...43,411,782
Ensembl chr17:43,404,925...43,411,739
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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 chr15:80,731,243...80,927,746
Ensembl chr15:80,730,716...80,927,746
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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 chr17:43,408,390...43,411,782
Ensembl chr17:43,404,925...43,411,739
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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 chr 7:7,221,654...7,244,626
Ensembl chr 7:7,221,656...7,244,612
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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 chr 3:13,565,439...14,794,365
Ensembl chr 3:13,565,281...14,794,365
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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 chr 6:18,190,971...18,236,184
Ensembl chr 6:18,191,664...18,235,862
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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 chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,614
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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 chr15:56,438,117...56,649,805
Ensembl chr15:56,438,148...56,649,792
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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 chr 1:96,080,751...96,287,034
Ensembl chr 1:96,080,824...96,276,992
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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 chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133
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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 chr 1:73,549,778...73,722,689
Ensembl chr 1:73,549,307...73,702,020
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