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G |
AHCTF1 |
AT-hook containing transcription factor 1 |
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IAGP |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
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NCBI chr 1:246,839,098...246,931,948
Ensembl chr 1:246,839,098...246,931,948
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G |
BMP4 |
bone morphogenetic protein 4 |
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IEP |
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RGD |
PMID:14710472 |
RGD:8699500 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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G |
FOXP1 |
forkhead box P1 |
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IAGP |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
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G |
GNB1 |
G protein subunit beta 1 |
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IAGP |
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 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292
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G |
MED13L |
mediator complex subunit 13L |
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IAGP |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693
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G |
NF1 |
neurofibromin 1 |
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IAGP |
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 chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
OLFM3 |
olfactomedin 3 |
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IAGP |
ClinVar Annotator: match by term: Strabismus, susceptibility to |
ClinVar |
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NCBI chr 1:101,802,560...101,996,926
Ensembl chr 1:101,802,560...101,996,926
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
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 chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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G |
QARS1 |
glutaminyl-tRNA synthetase 1 |
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IAGP |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 |
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NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130
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G |
SMARCA4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
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IAGP |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
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G |
SOX3 |
SRY-box transcription factor 3 |
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IAGP |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
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NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
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G |
SOX5 |
SRY-box transcription factor 5 |
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IAGP |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544
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G |
STXBP1 |
syntaxin binding protein 1 |
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IAGP |
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 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
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G |
TMCO1 |
transmembrane and coiled-coil domains 1 |
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IAGP |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
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NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
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G |
COLEC11 |
collectin subfamily member 11 |
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IAGP EXP |
ClinVar Annotator: match by term: 3MC syndrome 2 ClinVar Annotator: match by term: COLEC11-related condition CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 PMID:28492532 More...
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NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
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G |
MASP1 |
MBL associated serine protease 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980
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G |
SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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G |
AP4M1 |
adaptor related protein complex 4 subunit mu 1 |
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IAGP |
ClinVar Annotator: match by term: TAF6-related condition 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 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345
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G |
LARP7 |
La ribonucleoprotein 7, transcriptional regulator |
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IAGP |
ClinVar Annotator: match by term: Alazami-Yuan syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,077...112,657,696
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G |
TAF6 |
TATA-box binding protein associated factor 6 |
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IAGP |
ClinVar Annotator: match by term: Alazami-Yuan syndrome 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 chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841
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G |
FOXL2 |
forkhead box L2 |
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IAGP EXP |
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 |
ClinVar CTD |
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:20429427 PMID:21325395 PMID:21889601 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
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NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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G |
FOXL2 |
forkhead box L2 |
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IAGP |
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 chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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G |
COPB2 |
COPI coat complex subunit beta 2 |
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IAGP |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736
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G |
FOXL2 |
forkhead box L2 |
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IAGP ISS EXP |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome | ClinVar Annotator: match by term: FOXL2-related condition OMIM:110100 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
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 PMID:11175783 More...
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RGD:1598958 |
NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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G |
MRPS22 |
mitochondrial ribosomal protein S22 |
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IAGP |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
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G |
MAFB |
MAF bZIP transcription factor B |
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IAGP |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
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G |
TOGARAM1 |
TOG array regulator of axonemal microtubules 1 |
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IAGP |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431
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G |
TUBB4A |
tubulin beta 4A class IVa |
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IAGP |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
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G |
ROBO3 |
roundabout guidance receptor 3 |
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IAGP |
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 chr11:124,865,432...124,881,471
Ensembl chr11:124,865,432...124,881,471
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G |
ACTR1B |
actin related protein 1B |
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IAGP |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:97,655,939...97,664,044
Ensembl chr 2:97,655,939...97,664,044
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G |
CHN1 |
chimerin 1 |
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EXP IAGP ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Duane retraction syndrome OMIM:126800 | OMIM:604356 |
CTD ClinVar MouseDO |
PMID:25741868 |
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NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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 chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
CUX1 |
cut like homeobox 1 |
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IAGP |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958
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G |
FER |
FER tyrosine kinase |
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IAGP |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:108,747,897...109,196,841
Ensembl chr 5:108,747,841...109,196,841
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G |
FOXL2 |
forkhead box L2 |
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IAGP |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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G |
GNAS |
GNAS complex locus |
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IAGP |
ClinVar Annotator: match by term: Duane anomaly | ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
GNAS-AS1 |
GNAS antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Duane anomaly |
ClinVar |
PMID:25741868 |
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NCBI chr20:58,818,918...58,850,902
Ensembl chr20:58,818,893...58,855,296
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G |
KIF5C |
kinesin family member 5C |
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IAGP |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759
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G |
MAFB |
MAF bZIP transcription factor B |
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EXP ISS |
CTD Direct Evidence: marker/mechanism OMIM:126800 | OMIM:604356 |
CTD MouseDO |
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NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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G |
SALL4 |
spalt like transcription factor 4 |
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IAGP EXP ISO |
DNA:snps, deletions, insertion:multiple (human) CTD Direct Evidence: marker/mechanism DNA:duplication:cds:c.410dupG (human) DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) DNA:nonsense mutation:cds:p.R905X (human) DNA:frameshift mutation:cds:p.M640IfsX25 (human) |
CTD RGD |
PMID:16402211 PMID:30067223 PMID:12393809 PMID:26791099 PMID:12395297 PMID:16411190 PMID:17216607 PMID:23687435 More...
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RGD:11556210, RGD:11532205, RGD:11556232, RGD:11556231, RGD:11556215, RGD:11556211 |
NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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G |
TUBA8 |
tubulin alpha 8 |
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IAGP |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr22:18,110,809...18,131,732
Ensembl chr22:18,110,100...18,146,683
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G |
MAFB |
MAF bZIP transcription factor B |
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IAGP |
ClinVar Annotator: match by term: Duane syndrome type 1 |
ClinVar |
PMID:27181683 |
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NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
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G |
CHN1 |
chimerin 1 |
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IAGP |
ClinVar Annotator: match by term: Duane retraction syndrome 2 ClinVar Annotator: match by term: CHN1-related condition | ClinVar Annotator: match by term: Duane retraction syndrome 2 |
ClinVar OMIM |
PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 PMID:21555619 PMID:25741868 PMID:28492532 PMID:39033378 More...
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NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
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G |
LOC126806410 |
MED14-independent group 3 enhancer GRCh37_chr2:175778728-175779927 |
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IAGP |
ClinVar Annotator: match by term: Duane retraction syndrome 2 |
ClinVar |
PMID:20535495 PMID:28492532 |
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NCBI chr 2:174,914,000...174,915,199
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G |
LOC129935151 |
ATAC-STARR-seq lymphoblastoid silent region 12131 |
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IAGP |
ClinVar Annotator: match by term: Duane retraction syndrome 2 |
ClinVar |
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NCBI chr 2:175,005,082...175,005,141
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G |
MAFB |
MAF bZIP transcription factor B |
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IAGP |
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 chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
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G |
TFAP2A |
transcription factor AP-2 alpha |
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IAGP |
ClinVar Annotator: match by term: Esotropia |
ClinVar |
PMID:25741868 |
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NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
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G |
AUTS2 |
activator of transcription and developmental regulator AUTS2 |
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IAGP |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
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G |
CDH3 |
cadherin 3 |
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IAGP |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:28492532 |
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NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
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G |
COL4A2 |
collagen type IV alpha 2 chain |
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IAGP |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:28492532 |
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NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
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G |
COL4A2-AS1 |
COL4A2 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:28492532 |
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NCBI chr13:110,502,576...110,508,179
Ensembl chr13:110,502,575...110,508,179
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G |
HERC2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
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IAGP |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
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NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
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G |
LOXHD1 |
lipoxygenase homology PLAT domains 1 |
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IAGP |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386 |
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NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220
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G |
POMGNT2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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IAGP |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085
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G |
SOBP |
sine oculis binding protein homolog |
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IAGP |
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 6:107,490,117...107,661,306
Ensembl chr 6:107,490,106...107,661,306
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